Pediatric Surgery Handbook For Residents and Medical Students (2017)

PEDIATRICS - LABORATORY AND CLINICAL RESEARCH
PEDIATRIC SURGERY HANDBOOK FOR

RESIDENTS AND MEDICAL STUDENTS
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PEDIATRICS -
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PEDIATRICS - LABORATORY AND CLINICAL RESEARCH
PEDIATRIC SURGERY HANDBOOK FOR

RESIDENTS AND MEDICAL STUDENTS
TAIEB CHOUIKH
EDITOR
New York
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Published by Nova Science Publishers, Inc. † New York

To my beloved parents
Dedication
Pr. Sofien Ghorbel, Pr. Frederic Auber
Master surgeons, teachers, mentors, and friends
CONTENTS
Preface xi
Introduction xvii
List of Contributors xix
Part One: Common Pathology 1
Chapter 1 Hypertrophic Pyloric Stenosis 3
Chaima Mrad, Taieb Chouikh and Sofien Ghorbel
Chapter 2 Inguinal Hernia and Hydrocele 13
Chaima Mrad, Sofien Ghorbel and Taieb Chouikh
Chapter 3 Umbilical Hernia 23
Chapter 4 Intussusception 27
Chaima Mrad and Taieb Chouikh
Chapter 5 Appendicitis 37
Henri Kotobi and Taieb Chouikh
Chapter 6 Testicular Torsion 47
Chapter 7 Ovarian Torsion 55
Chaima Mrad and Taieb Chouikh
Part Two: Neonatal Surgery 65
Chapter 8 Esophageal Atresia 67
Benoit Parmentier
Chapter 9 Congenital Diaphragmatic Hernia 89
Naziha Khen-Dunlop
Chapter 10 Neonatal Intestinal Occlusion 97
Naziha Khen-Dunlop
viii Contents
Chapter 11 Omphaloceles and Gastroschisis 109

Sylvie Beaudoin
Part Three: Malformation Diseases 123
Chapter 12 Congenital Lung Malformations 125
Naziha Khen-Dunlop
Chapter 13 Gastroesophageal Reflux Disease (GERD) 137
Samer Bostame, Habib Bouthour, Taieb Chouikh and Nejib Kaabar
Chapter 14 Esophageal Achalasia 147
Chaima Mrad, Sofien Ghorbel and Taieb Chouikh
Chapter 15 Biliary Atresia 155
Soumaya Khadidja Khadir
Chapter 16 Choledochal Congenital Malformation 163
Soumaya Khadidja Khadir
Chapter 17 Intestinal Duplications 171
Chaima Mrad, Taieb Chouikh and Sofiene Ghorbel
Chapter 18 Anorectal Malformations 181
Célia Crétolle
Chapter 19 Multicystic Dysplastic Kidney Disease 195
Habib Bouthour, Fatma Trabelsi and Nejib Kaabar
Chapter 20 Prenatal Upper Urinary Tract Dilatation 203
Claire Raquillet, Samer Bostane and Taieb Chouikh
Chapter 21 Vesicoureteral Reflux 215
Chapter 22 Posterior Urethral Valves 229
Claire Raquillet and Taieb Chouikh
Chapter 23 Hypospadias 241
Habib Bouthour, Samer Bostame and Nejib Kaabar
Chapter 24 Undescended Testicles 259
Taieb Chouikh, Chaima Mrad and Sofien Ghorbel
Part Four: Tumors 267
Chapter 25 Mediastinal Masses 269
Chapter 26 Liver Tumors 285
Chapter 27 Lymphoma 297
Contents ix
Chapter 28 Pelvic Tumors 303

Chapter 29 Retroperiotneal Tumors 321
Chapter 30 Testicular Tumors 337
Chaima Mrad, Taieb Chouikh, Frederic Auber and Sofiene Ghorbel
Part Five: Trauma 347
Chapter 31 Pediatric Abdominal and Thoracic Trauma 349
Christine M. Leeper, Isam W. Nasr and Stefan Scholz
Chapter 32 Burns 373
Chapter 33 Child Abuse 379
About the Editor 383
Index 385
PREFACE
This book provides a didactic and fluid approach for medical students and interns, and
enables them to understand and integrate the major themes of pediatric surgery. It includes
the most common pathologies (hernia, testicular ectopia, etc.), the neonatal pathologies,
pediatric surgical oncology and a comprehensive chapter on the surgical approach to child
injury. The objective of this book is to allow the reader to have a clear and rational approach
to the condition being treated. It is not a manual of surgical techniques or pathophysiology,
but rather a practical book that attempts to explain in a simple and efficient manner, the
diagnostic approach and therapeutic principles in the pediatric surgery field.
Several international teams from different countries who share this aim participated in the
conception of this work, offering students a manual to guide them in their daily practice of
pediatric surgery.
Chapter 1 - Hypertrophic pyloric stenosis (HPS), is defined as a condition where there is
a hypertrophy of the two muscle layers of the pylorus. The pyloric canal lengthens, the whole
pylorus thickens, and the mucosa become oedematous causing obstruction of the gastric
outlet.
Chapter 2 - A hernia is defined as a protrusion of a portion of an organ or tissue through
an abnormal opening (defect) in the cavity containing it. In children, the abnormal defect,
which is congenital, is usually at the internal inguinal ring. In 1807, Cooper identified the
transversalis fascia and the ligament associated with his name (Cooper's ligament). Cloquet
observed in 1817 that the processus vaginalis is often patent at birth; he also described the
femoral hernias.
Chapter 3 - Umbilical hernia is a common disorder in infants and young children. The
hernia sac protrudes through a defect in the umbilical ring. Although the defect is present at
birth, unlike other hernias of childhood, an umbilical hernia may resolve without the need for
surgery.
Chapter 4 - Intussusception is the acquired invagination of one portion of the intestine
(the intussusceptum) into the adjacent bowel (the intussuscipiens) with a further motion of the
intussusception into the intussuscipiens by peristalsis. The most common form is ileocolic in
80-90% of cases, the ileo-ileal form occurs in up to 15%. The caeco-colic, colo-colic and
jejuno-jejunal forms are rare.
Chapter 5 - Acute appendicitis (AA) remains the most common visceral paediatric
surgery emergency in developed countries. Since the 90s, the radiological progress allowed a
xii Taieb Chouikh
considerable improvement in the diagnosis of acute paediatric appendicitis. Nevertheless, it is

not always easy to have an accurate diagnosis.
Two risks persist in the management of acute paediatric appendicitis: the delay in the
diagnosis and a high rate of false positive diagnosis, which justifies being interested in this
entity in all points of view (epidemiological, diagnosis and therapeutic management).
Chapter 6 - Acute testicular torsion in children is an emergency and has to be diagnosed
urgently. Late presentation or failure to diagnose and correctly manage this condition leads to
loss of the testis on the affected side. The incidence of testicular torsion is at least 3.8 per
100,000 males younger than 18 years old. There is a bimodal distribution of testicular torsion,
with one peak at age 1 month and another at age 12 years, which may reflect the clinical
distinction between extravaginal torsion in newborns, and intravaginal torsion in older infants
and children.
Chapter 7 - Ovarian torsion is an emergency that needs early diagnosis and management
to avoid adnexal injury.
Because the symptoms of ovarian torsion are nonspecific and can be related to other
gynecologic, urologic, or gastrointestinal causes, the diagnosis remains a challenge for
primary care physicians.
Chapter 8 - Esophageal Atresia is a life threatening congenital anomaly that requires
prompt management. Prenatal diagnosis of EA remains challenging and inconstant. The
Prognosis of EA is linked to several factors and has dramatically improved over the last
decades. The management is based on surgical repair but in most of the cases; the surgery is a
step of a global and adequate management.
Chapter 9 - Congenital diaphragmatic hernia (CDH) affects about 1/ 2500 births. Two
forms are described: the posterolateral defect in 80% of cases (Bochdalek hernia) and the
anterior defect in 20% of cases (Morgani-Larrey hernia). Because of its frequency and its
severity, posterior Bochdalek hernia focuses the interest and is usually confound with the
denomination of “congenital diaphragmatic hernia”.
Chapter 10 - Digestion is a primordial function that sets up early in the fetal life. From 15
weeks gestation swallowing is present as a reflex mode and prenatal US shows that intestinal
contractions are present since 25 weeks, initially uncoordinated until an effective peristalsis at
32-33 weeks. In the last trimester, amniotic fluid digestion contributes to the intestinal
maturation but also participates in the nutrition of the fetus.
Most of neonatal occlusions are a prenatal event. Depending on the level of small bowel
atresia (duodenal, jejunal, ileal), the impact on the gut varies prenatally. Postnatally, the
consequences are also variable but it requires an intervention in most of case that will allow
the restoration of digestive continuity. Depending on the global quality of the bowel and its
length, parenteral nutrition support may be necessary for a more or less long period.
Congenital colonic occlusions account for half of all cases of neonatal occlusion and can be
classified into two major groups: functional or mechanical. Main functional obstructions are
Hischsprung diseases, chronic pseudo-obstruction or microcolon syndrome.
The goal of the post-natal management is double. First, it should prevent the secondary
intestinal damages, with a gentle per-operative manipulation, and minimal intestinal
resection. Secondly, it has to optimize the functional maturation with an early enteral
nutrition but without overload, a quite delicate balance.
Chapter 11 - Omphaloceles and gastroschisis are congenital malformations interesting the
ventral abdominal wall. Both are nowadays prenatally diagnosed in the first trimester of
Preface xiii
pregnancy, and both may be surgically challenging when the visceral volume outside the
abdominal cavity increases. Otherwise, these two malformations are radically different.
Chapter 12 - Advances in antenatal imaging over the past 10 years have dramatically
changed diagnosis and management of congenital lung disease, especially for the two lesions
most commonly detected: congenital pulmonary airway malformation (CPAM), previously
named congenital cystic adenomatoid malformations (CCAM), and bronchopulmonary
sequestrations (BPS). If early surgical excision is required for all symptomatic malformations,
management of asymptomatic cases is still controversial. Complete regression of
sequestrations or clinical and morphological improvement in congenital lobar emphysema
pleads for clinical watching. On the other hand, resection is advocated for cystic
malformations, because of an increased risk of acute respiratory distress, later infections and
the possibility of malignant transformation. Further studies and long term follow up are still
needed. The natural history and consequences of late complications of lung malformations
has to be compared with the benefits of elective resection and surgical morbidity.
Chapter 13 - GERD is defined as the pathologic effects of involuntary passage of gastric
contents into the esophagus. Ultimately, the pathophysiologic alteration that is responsible for
the development of GERD is incompetence of the antireflux barriers that exist between the
lower esophagus and the stomach.
In adults, the consequence of this refluxate in the esophagus is primarily limited to
erosive esophagitis, esophageal stricture, and Barrett’s esophagitis. In children, its detrimental
effects are much broader. Also, associated physiologic, anatomic, and developmental
abnormalities co-exist in children that make GERD and its consequences much more
complex.
Many children with GERD have significant neurologic impairment. These children can
have increased spasticity with retching and related increased abdominal pressures.
Sometimes, a hiatal hernia develops, further predisposing to GERD. Congenital
anomalies such as esophageal atresia (EA) with or without tracheoesophageal fistula (TEF),
duodenal and proximal small bowel atresias, congenital diaphragmatic hernia (CDH), and
gastroschisis/omphalocele all predispose to the development of GERD.
Chapter 14 - Achalasia is a motility disorder of the esophagus; dysphasia is the most
common sign. The diagnosis is usually suspected on clinical history or in cases of associated
malformations and confirmed by the study of the esophagus motility. The management aims
to relief the esophagus obstacle and to allow an appropriate oral feeding.
Chapter 15 - Biliary atresia (BA) is a progressive obliterating inflammatory
cholangiopathy, affecting both intra and extra hepatic part of the biliary tree. If not treated, it
will lead to cirrhosis, liver failure and ultimately death in few months or years.
Chapter 16 - Choledochal congenital malformation refers to an abnormality characterized
by a unique or multiple communicating cystic dilations of the extrahepatic biliary duct,
associated or not with a dilatation of the intrahepatic left and right channel.
It is a rare condition in Western Europe and North America, more common in Asia; the
treatment is always based on surgery.
Chapter 17 - Intestinal duplications are rare congenital malformations that can take many
forms and may occur in any part of the gastrointestinal tract from mouth to anus. Symptoms
vary according to the duplication’s position, size, type and histology. Multiple duplications
can occur in the same patient, and other congenital anomalies may be present.
xiv Taieb Chouikh
Chapter 18 - Anorectal malformations (ARM) concern all anorectal tract defects. Their
prevalence is approximately 1/3000. It is a broad spectrum of malformations with
heterogeneous functional prognosis, associated in 60% of cases with other malformations.
Nearly 30% of cases are well-identified syndromes. It is thus important that newborns with
ARM are referred to an expert center to provide early and complete care.
Although the surgical treatment based on the type of the malformation is now well
codified, and aims to reproduce normal anatomy, mechanical defecation process remains
altered. Postoperative management and follow-up have an important place, to keep these
patients, if not continent, at least with socially acceptable cleanliness.
The therapeutic strategy should be based on a multidisciplinary follow-up over a long
time which is the guarantee of a satisfactory functional outcome in adulthood, involving the
intervention of a visceral surgeon, and also urologist, neurosurgeon, orthopedist, and
cardiologist depending on the associated malformations. The place of supportive care is also
fundamental: dietician, psychologist, social worker at different ages and physiotherapist (after
the age of 7 years old). In this respect, the development of therapeutic education programs
can be of great value to accept constraints of support and management.
Because disability generated by these defects is not visible, the impact can be relevant in
everyday life. Wandering and isolation of patients are still significant and can lead to extreme
situations. The labeling of the French National reference center MAREP (for anorectal
malformations and rare pelvic anomalies) has demonstrated the important role of medical and
para medical care for this surgical pathology and of developing networks of medical and
supportive care throughout the country.
This requires a tight collaboration between pediatric and adult teams to build program of
transition to adulthood and conversely to better identify the late sequelae of these pathologies.
Chapter 19 - The multicystic dysplastic kidney disease (MCDK) is one of the most
common malformations of the urinary tract, grouped under the term of Congenital
Abnormalities of Kidney and Urinary Tract (CAKUT). It must be differentiated from
polycystic kidney disease which is mostly inherited diseases of the cilia proteins. Its incidence
is estimated at one per 4,300 live births. Boys are more commonly affected, with a sex ratio
of 1.48. The left kidney is more frequently involved (55% of cases). Bilateral involvement is
rare and lethal. Some forms of MCDK may be familial, but most are sporadic. The MCDK is
nevertheless exceptionally responsible for an end-stage renal failure (ESRD), the prognosis
depends on the contralateral kidney.
Chapter 20 - In Europe, prenatal uropathy is found in 3,1 over 1000 live birth. This is a
common cause for prenatal consultation for a specialist in fœtal medicine or pediatric
surgeon. The aim of this chapter is to introduce the management of prenatal cases of upper
tract dilation.
Chapter 21 - Vesicoureteral reflux (VUR) refers to the retrograde passage of urine from
the bladder into the ureter. The aim of the management in this pathology is to prevent from
the acquired part of the reflux nephropathy, and to reduce the morbidity of the repeated
infection of the urinary tract, based on endoscopic or surgical procedures.
Chapter 22 - Posterior Urethral Valves (PUV) is the most common cause of lower urinary
tract obstruction. This malformation is one of the rare prenatal surgical newborn life-
threatening conditions. 60 to 80% of patients with PUV have a prenatal diagnostic and early
management.
Preface xv
Chapter 23 - Hypospadias is a developmental anomaly characterized by a urethral meatus

that opens onto the ventral surface of the penis, proximal to the end of the glans. The meatus
may be located anywhere along the shaft of the penis, from the glans to the perineum.
Three associated anomalies are classically found in the hypospadiac penis: (1) an ectopic
opening of the urethral meatus located at any place between the glans and the base of the
penis, (2) a ventral curvature of the penis (chordee), and (3) a hooded foreskin with a marked
excess of skin on the dorsum of the penis and a lack of skin on the ventrum. In fact, the
chordee and the hooded foreskin are not constant, and a hypospadiac meatus may be found
under a normally formed prepuce.
Chapter 24 - The undescended testis represents one of the common referrals to a pediatric
surgeon, but the presentation varies considerably. The management differs widely depending
on the age of the child and the location of the testis.
An undescended testis is found in 3–5% of full-term male newborns and bilateral in
nearly 2%. In premature neonates, the incidence of undescended testes is reported to be 30%,
reflecting the continued descent of the testes throughout the third trimester.
A testis may be high in the retroperitoneum or retractile, migrating into and out of the
scrotum. The testis may be also absent or vanishing, and the clinician must be proficient in
performing an abdominal exploration to confirm it.
Recent studies demonstrate that birth weight rather than gestational age is the primary
determinant of undescended testes. Postnatal testicular descent may be possible and usually
occurs prior to 6 months of age.
Chapter 25 - Mediastinal masses are defined by a combination of clinical and radiological
features caused by the existence of abnormal structures in the mediastinum.
The mediastinum is the body compartment limited by the sternum, the spine, the
diaphragm and the lungs. It is divided into three parts.
Anterior Mediastinum is limited anteriorly by the posterior surface of the sternum,
posteriorly by the anterior face of the great vessels, trachea, and pericardial sac, and on each
side of the pleura and lungs. It contains the thymus, great vessels and a network of lymphatic
structures.
Middle Mediastinum is circumscribed in the classical anatomic description by the
pericardium. It includes the trachea, main stern bronchi the heart, the great vessels, and the
hilar lymph.
Posterior Mediastinum lies behind a line passing in front of the tracheal bifurcation and
extending to the paravertebral space. It contains the thoracic esophagus, the sympathetic
nerves chain and a part of the great vessels (Aorta, Azygos Vein).
Chapter 26 - Liver tumors constitute less than 3% of tumors seen in the pediatric
population, they comprise a large variety of different entities. Hepatoblastoma is the most
frequent, other liver malignancies in children include sarcomas, germ cell tumors, and
rhabdoid tumors, as well as the more familiar hepatocellular carcinoma. Benign tumors of the
liver in children include vascular tumors, hamartomas, adenomas, and focal nodular
hyperplasia.
The histology and anatomy of a pediatric liver tumor guides the treatment and the
prognosis.
Chapter 27 - Lymphoma is the most common small bowel tumor in the pediatric
population. The diagnosis is suspected on abdominal mass on the clinical exam and cytopenia
on the laboratory tests. Chemotherapy is the therapeutic of choice of this tumor. The
xvi Taieb Chouikh
diagnosis can be made during the surgical exploration of an acute abdomen with non-specific
features.
Chapter 28 - The most common pelvic tumors in the pediatric population are
rhabdomyosarcomas, sacrococcygeal teratoma, teratomas, and ovarian tumors. Genetic,
identification, histology type, location, and extension of the tumors represent the most
important prognosis factors in the management of the pelvic tumor. The chemo sensibility of
most of these lesions changed their surgical approach. The survival rates have improved
during the last decades with the most current protocol therapy.
Chapter 29 - A broad spectrum of tumors arises in the retroperitoneal area in infants and
children ranging from benign to some of the most malignant tumors seen in children. Wilms’
tumor is the most common renal tumor in childhood and is the second most common
abdominal tumor presenting in infants and children after neuroblastoma.
Today the vast majority of children with these tumors can be cured by multidisciplinary
therapy. Their treatment is based on multiple randomized therapeutic trials which have
established the basis for current treatment. In this chapter, the two most common retro
peritoneal tumors are presented with a review of the current treatment algorithms.
Chapter 30 - Testicular tumors are rare in children. Pediatric testis tumors are
pathologically and clinically different from the adult’s tumors, so their management needs to
be different.
Chapter 31 - Pediatric trauma kills 875,000 children and injures an additional 10-30
million children each year, resulting in a tremendous life years lost and cost to society. The
care of the pediatric trauma patient is unique given the myriad anatomic and physiologic
differences between children and adults. However, the basic principles of trauma care are
familiar with the goals of restoring and maintaining oxygen delivery, diagnosing and treating
life-threatening injuries in a timely fashion and minimizing secondary injury. This process
involves trauma team preparation, a primary survey, a secondary survey, and the use of
adjunct procedures and resources. Special populations include those with solid organ injury,
burns and victims of child abuse.
Chapter 32 - Children are curious and like to explore their surroundings. A child’s
sensitive skin burns far more easily than adult. Burns and scalds are a major cause of serious
injury in children from newborn to 14 years old. Children under four years, especially those
aged between one and two years are most at risk due to their increased mobility and natural
curiosity.
A severe scald or burn can inflict serious injury and may mean a long stay in the hospital.
It may also require painful skin grafts and years of treatment, and can result in permanent
scarring.
Chapter 33 - The management of abused children is particularly challenging. The
diagnosis is commonly delayed. The earlier abused children get help, the greater chance they
have to heal. By learning about common signs of abuse and what can be done, a huge
difference in a child’s life can be made.
INTRODUCTION
This textbook offers an exciting learning experience for pediatric surgeons in training as
well as for experienced clinicians wishing to be updated on the current state of the art and the
latest developments in the field of pediatric surgery.
The aim of producing this textbook is our wish to create a stimulating and up-to-date
pediatric surgery textbook that will help the reader to understand the common pathology
faced in our daily practice. The spirit of this book is based on a simple philosophy: provide a
practical resource of approaches for the pediatric surgery residents and medical students, with
an emphasis on the special considerations surrounding the surgical care of children. We did
our best to offer this information in an accessible and pleasing format, written by an
experienced and international group of surgeons and clinicians.
Taieb Chouikh MD
LIST OF CONTRIBUTORS
Benoit Parmentier, MD
Special Registrar, Pediatric Surgery Department,
Hôpital Universitaire Armand Trousseau,
Av du Dr Arnold Netter 75012, Paris France
Celia Cretolle, MD, PhD

Pediatric Surgeon, Pediatric Surgery Department
Co-coordinator National Reference Center MAREP for
“anorectal malformations and rare pelvic anomalies”
Coordinator of the “Filière Nationale de santé maladies rares” NeuroSphinx
Necker-Enfants Malades Hospital, 149 rue de Sevres, 75015 Paris, France
Chaima Mrad, MD
Pediatric Surgery Resident
Sousse School of Medecine Ibn Al Jazzar University Sousse Tunisia
Christine M. Leeper, MD
General Surgery Resident
Department of Surgery, University of Pittsburgh School of Medicine
Research Fellow, Division of Pediatric General and Thoracic Surgery
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
Claire Raquillet, MD
Pediatric Surgeon
Chief of the Department of Pediatric surgery, Hopital Robert Ballanger,
BD Robert Ballanger.Aulnay sous bois 93602 France
xx Taieb Chouikh
Fatma Trabelsi
Pediatric Surgery Department, Habib Thameur Hospital, Tunis Tunisia
Frederic Auber, MD, PhD

Professor of Pediatric Surgery,
Besançon School Of Medecine Bourgogne Franche Comté Universtity
Pediatric Surgeon, Department of Pediatric surgery,
Centre Hospitalier Universitaire Jean Minjoz, Bd A.Flemming Besançon 25000 France.
Habib Bouthour, MD
Pediatric Surgery assistant Professor
Tunis School of Medecine University El Manar
Pediatric Surgeon, Pediatric Surgery Department, Habib Thameur Hospital, Tunis Tunisia
Henri Kotobi, MD
Pediatric Surgeon, Pediatric Surgery Department
Hôpital Universitaire Armand Trousseau, 26 Av du Dr Arnold Netter 75012, Paris France
Isam Waddah Nasr, MD

Associate Director, Pediatric Trauma Program, Johns Hopkins Children’s Center
Assistant Professor of Surgery, Johns Hopkins University,
1800 Orleans Street, Pediatric Surgery Bloomberg 7323, Baltimore, MD 21287, USA
Khadidja Khadir, MD
Centre Hospitalier Univeristaire le Kremlin Bicetre
78 Rue du Général Leclerc, 94270 Le Kremlin-Bicêtre France
Hopital Robert Ballanger, Bd Robert Ballanger.Aulnay sous bois 93602 France
Naziha Khen Dunlop, MD-PhD

Pediatric Surgeon, Department of Paediatric Surgery-
Department of Paediatric Pulmonology, Hôpital Universitaire Necker-Enfants malades
149 rue de Sevres, 75015 Paris, France
Nejib Kaabar, MD, PhD

Pediatric Surgery Professor, Tunis School of Medecine, University El Manar
Pediatric Surgeon, Chief of the department of Pediatric Surgery,
Habib Thameur Hospital, Tunis Tunisia
List of Contributors xxi
Samer Bostame, MD
Pediatric Surgery Department, Habib Thameur Hospital, Tunis, Tunisia
Al Najah National University Palestine
Sofien Ghorbel, MD, PhD

Formely Pediatric Surgery Professor
Tunis School of Medecine University El Manar, Tunis,Tunisia
Stefan Scholz, MD, FACS, FAAP

Assistant Professor of Surgery, University of Pittsburgh School of Medicine
Director of Minimally Invasive Surgery,
Division of Pediatric General and Thoracic Surgery
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive, 4401 Penn Avenue, Pittsburgh, PA 15224, USA
Sylvie Beaudoin, MD, PhD

Pediatric Surgeon, Department of Pediatric Surgery
Hôpital Universitaire Necker Enfants Malades, 149 rue de Sevres, 75015 Paris, France
APHP, Université Paris Descartes
Taieb Chouikh, MD
Special Registrar
Formely Pediatric Surgery assistant Professor,
Tunis School of Medicine, University El Manar Tunisia
Department of Paediatric Surgery, Hôpital Universitaire Necker-Enfants malades Hospital,
149 rue de Sevres, 75015 Paris, France
Hopital Robert Ballanger Bd Robert Ballanger 936020, Aulnay sous bois France
PART ONE
COMMON PATHOLOGY
In: Pediatric Surgery Handbook for Residents … ISBN: 978-1-53610-793-7
Editor: Taieb Chouikh © 2017 Nova Science Publishers, Inc.
Chapter 1
HYPERTROPHIC PYLORIC STENOSIS
Chaima Mrad1, MD, Taieb Chouikh2,*, MD

and Sofien Ghorbel3, MD, PhD
1
Pediatric Surgery Resident,
Sousse School of Medecine Ibn Al Jazzar University, Sousse, Tunisia
2
Tunis School of Medecine University El Manar Tunisia;
Department of Paediatric Surgery,
Hôpital Universitaire Necker-Enfants malades Hospital, Paris, France;
Hopital Robert Ballanger Bd Robert Ballanger, Aulnay sous bois, France
3
Tunis School of Medecine University El Manar, Tunis, Tunisia
ABSTRACT
Hypertrophic pyloric stenosis (HPS), is defined as a condition where there is a
hypertrophy of the two muscle layers of the pylorus. The pyloric canal lengthens, the
whole pylorus thickens, and the mucosa become oedematous causing obstruction of the
gastric outlet.
Keywords: hypetrophic pyloric stenosis, nonbilous vomiting, abdominal ultrasound,

metabolic alkalosis, pyloroplasty
EPIDEMIOLOGY
The incidence of HPS is 2 per 1,000 live births in western countries; and is less common
in other parts of the world [1, 2].
The incidence of HPS might vary seasonally. Summer and autumn are the seasons with
the highest incidence of HPS. Confirmation of seasonal variation may lead to studies
*
Special Registrar, Formely Pediatric Surgery assistant Professor. Corresponding author: [email protected].
4 Chaima Mrad, Taieb Chouikh and Sofien Ghorbel
assessing the impact of seasonally related variables such as infectious disease in the causation
of pyloric stenosis [3].
Males outnumber females in every series by a ratio of 4-5/1. There is a higher risk of
developing HPS in offspring of parents with this condition and, in many series, first-born
males are frequently encountered [4]. Presentation is usually between 3 and 5 weeks of age,
and approximately 95% of cases are identified in those aged 3-12 weeks [5]. Risk Factors for
HPS include family history, gender, younger maternal age, being a first-born infant, and
maternal feeding patterns.
ETIOLOGY
HPS is considered as a complex disorder that results from genetic and environmental
factors [6].
Maternal smoking and alcohol consumption during pregnancy might be environmental
factors that contribute to HPS [7]. Prenatal and postnatal exposure to medication and
hyperacidity in neonates has been the subject of research, and the role of early exposure to
erythromycin in the pathogenesis of HPS deserves consideration. Erythromycin is an agonist
of motilin that is known to induce contractions of the gastrointestinal tract causing active
gastric and pyloric contractions, that may eventually lead to hypertrophy of the pylorus [8].
Several genetic loci have been implicated, including HPS1, where a deficient production
of neuronal nitric oxide synthase causes impaired relaxation of the pyloric smooth muscle [9].
Numerous clinical syndromes are associated with HPS that result from mutations in
genes affecting different pathophysiological pathways. (X-linked myotubular myopathy 1,
Ehlers–Danlos syndrome, Smith–Lemli–Opitz syndrome) [10].
DIAGNOSIS
History of Symptoms
The classic clinical presentation of HPS is a full-term neonate who is between 2 and 8
weeks old presenting a recent onset of vomiting. This vomiting is forceful nonbilious,
typically described as “projectile.” it contains gastric contents, which may become blood
tinged with protracted vomiting, likely related to gastritis. Initially intermittent and may
appear to be reflux. However, the frequency of vomiting increases to follow all feedings. The
child exhibits a voracious appetite, since the inability to achieve adequate nutrition. Weight
loss may be extensive, and the infant may be below birth weight at the time of presentation.
In patients who present late, there is a disappearance of subcutaneous fat and wrinkled skin.
Stools become infrequent, dry and firm. Jaundice occurs in about 2% of the cases, due to a
decrease in glucoronyl transferase, as a consequence of starvation.
Hypertrophic Pyloric Stenosis 5
Physical Observation
The abdomen is completely exposed, and visible peristaltic waves may be present
appearing in the upper left quadrant and moving slowly to the right across the epigastrium.
The palpation of the hypertrophic pyloric muscle mass (also called the olive) in the
epigastrium or upper right quadrant is pathognomonic for the diagnosis of HPS. Several
methods for olive palpation are recommended
1. Remove the child’s clothing so as to expose the abdomen. Allow patient to relax by
sucking on sugar water while lying supine in the parent’s lap.
2. Gently elevate the child’s feet and flex the legs (this relaxes the abdominal wall).
3. Place examining hand between the child’s legs so that the fingers rest on the
abdominal wall. Using fingertips, palpate the inferior margin of the liver edge,
4. Slide fingertips under the liver edge and superiorly under the liver, then posteriorly to
the back of the abdomen.
5. With fingers flexed and palpating the posterior abdomen, draw fingers inferiorly
along abdominal wall. The “olive” will pop under the fingers. The olive is palpable
in most cases just above the umbilicus at the lateral border of the rectus muscle
below the liver edge.
Estimating dehydration is an important first step in determining optimal approaches to

diagnose HPS. Acute body weight changes provide the best measure of dehydration in a
young child. Mucous membrane hydration, capillary refill time, absence of tears, and
alterations in mental status are the next best-associated measures.
Laboratory Test
The classical picture is hypochloremic metabolic alkalosis due to loss of hydrochloric

acid in vomited gastric fluid. It may be associated with hypokalemia as the kidneys
compensate for the underlying alkalosis by preferentially excreting potassium to retain
hydrogen ions. It is usually seen as a result of persistent vomiting (often more than three
weeks). Persistent vomiting and dehydration may also lead to either hyper- or hyponatremia.
Pre-renal failure can occur [5].
Radiologic Assessment
Endoscopy has been advocated by some investigators [11] as a successful tool in the
diagnosis of HPS. However, the invasiveness and expense of this procedure do not seem to
justify its use when other diagnostic methods are available. At present, there are two valid
methods for the imaging diagnosis of HPS, the upper gastrointestinal study (UGI) and
sonography. UGI is superior to the US in diagnosing some other conditions associated with
vomiting in infants, such as gastroesophageal reflux, malrotation, and gastric webs. However,
sonography has certain advantages over UGI, including the absence of ionizing radiation
exposure and lack of oral contrast use that eliminates the risk of barium aspiration or
intraperitoneal barium spillage during surgery. It led the US becoming the standard or
preferred initial imaging method when HPS is the most likely diagnosis [4]. Sonographic
examination demonstrates the thickened pre-pyloric antrum bridging the duodenal bulb and
distended stomach. A pyloric thickness of 3 mm or higher and length of 15 mm or larger by
ultrasonography is widely accepted as diagnostic criteria for [12]. The classic target sign is
seen in the transverse view (Figure 1 a-b).
Also, several recent studies have suggested that the pyloric muscle thickness and length
directly correlate with age and weight [13]. Other positive sonographic findings include
observation of the lack of opening of the pyloric channel and the lack of visualization of
passage into the duodenum [14].
The specificity and sensitivity of ultrasound in diagnosing HPS, in the hands of
experienced pediatric radiologists, are very high with 98 and 100%, respectively [15].
(a)
(b)
Figure 1. Ultrasound images of HPS (a) Longitudinal view (b) Transverse view.
PRE-OPERATIVE CONSIDERATIONS
Once diagnosis is made, all feeds are stopped. It is helpful to aspirate all gastric content
by nasogastric tube (NGT). Keeping the stomach empty would help prevent aspiration from
vomiting. Gastric losses are monitored and replaced milliliter for milliliter with 0.9% saline.
Surgical correction of pyloric stenosis is not an emergency, and therefore the electrolyte
disturbances can and should be meticulously corrected before operation. Blood chemistries
are evaluated for chloride, bicarbonate, sodium, and potassium. Administration of fluid
containing potassium chloride is essential to help resolve the chloride-responsive alkalosis.
Prompt IV access should be established even though it may prove to be difficult because of
the dehydration. When serum chloride and serum bicarbonate are corrected, performing
anesthesia and surgery are safe [16].
TREATMENT
The treatment of HPS has undergone an impressive evolution. Initially, nonsurgical

treatment has been directed toward maintenance of adequate nutrition (enema solutes, gastric
lavage, irradiation of the pylorus, administration of atropine, belladonna, opium, and
cocaine). Surgical management was begun in 1892. Initial curative attempts consisted of
gastroenterostomy, with the first survival reported in 1898. The first surgical attempt directed
at the pylorus was performed by Nicoll and consisted of crude forceps dilatation of the lumen,
accessed via a gastric incision [17].
Figure 2. Different acceses to the pyloric Olive.

Pyloroplasty became the procedure of choice in the 1st decade of the 20th century and
was applied by Dent, Heineke, Mikulicz, Nicoll, Fredet, and Weber, with variations on the
theme of incising and resuturing the pyloric muscle 18. In 1911, Conrad Ramstedt performed
his first operation for HPS, and, having difficulty resuturing the muscle, did not complete the
process [19]. Since then, the Ramstedt procedure has been considered as the standard of
surgical treatment of HPS.
Surgery
Traditional surgical access has included right upper abdominal transverse muscle-
splitting incision (Rickham in 1940) [18] (Figure 2a). In 1986, Tan and Bianchi introduced
the circum- umbilical incision for pyloromyotomy [20] (Figure 2b). Alain and coworkers first
described a laparoscopic approach to pyloromyotomy in 1991(Figure 2c) [21]. This approach
has since gained popularity among pediatric surgeons.
The Procedure
A nasogastric tube must be placed before the induction of anesthesia. The patient is
placed in the supine position. The stomach is identified and grasped proximal to the pylorus
with non-crushing clamp and brought through the wound; The pylorus is held with surgeon's
thumb and forefinger to stabilize and assess the extent of hypertrophied muscle (Figure 3a).
In the laparoscopic approach, the pylorus is grasped with an atraumatic grasper (Figure 3b).
(
(a) (b)
(c)
Figure 3. Grasping the pylorus (a)(b)(c).

(a) (b)
(c)
Figure 4. (a) (b) (c) Spreading the pyloric muscle loose prolapsing of the mucosa.
A sero-muscular incision is made over the avascular area of pylorus with a scalpel,
starting 1-2 mm proximal to the gastric antrum. The incision should go far enough on the
gastric antrum at least 05-1 cm from the antropyloric junction (Figure 3c). In Laparoscopy, a
nonretractable arthrotomy blade is used to incise the pyloric muscle. The scalpel handle is
used to split further the hypertrophied muscle down to the submucosal layer. Then pyloric
muscle is spread widely; the spreader is placed at the midpoint of incision line, and muscle is
divided perpendicularly and continuing proximally and distally Figure 4a-b. Gentle spreading
is required to obtain a complete myotomy. Loose prolapsing of intact mucosa is evidence of a
satisfactory myotomy. Figure 4c.
To test the mucosal injury, the stomach is inflated through the nasogastric tube, and
passage of air through the pylorus to duodenum is confirmed. The pylorus is dropped back
into the abdomen and incision is closed in layers.
Complications [22]
Mucosal Perforation: (1-2% of Cases)

If the disruption occurs at the duodenopyloric junction, a simple interrupted absorbable
suture can be placed to close the defect and a patch of omentum can be used to bolster the
repair. If the perforation is large or located in the middle of the myotomy; the myotomy
should be closed. A new myotomy can be made 90 to 180 degrees from the original incision.
Feeding should be held for 24 hours and then restarted.
Incisional Hernias and Wound Dehiscence: (1%of Cases)

Most hernia defects require repair. Laparoscopically, port site hernias usually involve
omentum protruding through the incision.
Post-Operative Emesis: (80% of Patients)

Prolonged emesis is less common (2-26%). Most commonly, this is due to
gastroesophageal reflux (24-31%), but it can be secondary to incomplete myotomy (0-6%).
POST-OPERATIVE CONSIDERATIONS
A variety of postoperative feeding regimens have been used after pyloromyotomy. More
contemporary thoughts suggest that early feedings within a few hours after recovery are safe
and effective at starting the patient’s progress to discharge. The use of ad libitum feeds in the
early postoperative period results in a faster time to full feeds and quicker discharge [14]. The
patient is expected to vomit postoperatively. The stomach is irritated and if over distended,
will likely result in vomiting. Continuing to feed the child will result in more food being
tolerated as the postoperative period continues.
DISCHARGE CRITERIA
When the child is afebrile, able to tolerate maintenance feeds, has acceptable pain
control, and does not have other problems, such as apnea, the child can be safely discharged
home, approximately 2-4 days after surgery
REFERENCES
[1] Hernanz-Schulman M. Infantile hypertrophic pyloric stenosis. Radiology. 2003
May;227(2):319-31.
[2] Hirschsprung H. Falle von angeborener pylorusstenose, beobachtet bei sauglingen.
Jahrb der Kinderh 1888; 27:61–68.
[3] Pedersen, Rikke Neess, et al. Infantile hypertrophic pyloric stenosis: a comparative
study of incidence and other epidemiological characteristics in seven European regions.
The Journal of Maternal-Fetal and Neonatal Medicine 21.9 (2008): 599-604.
[4] Nielsen, J. P., Haahr, P. and Haahr, J. Infantile hypertrophic pyloric stenosis.
Decreasing incidence. Dan. Med. Bull. 47, 223–225 (2000).
[5] Persson, S., Ekbom, A., Granath, F. and Nordenskjold, A. Parallel incidences of sudden
infant death syndrome and infantile hypertrophic pyloric stenosis: a common cause?
Pediatrics 108, E70 (2001).
[6] Peeters B1, Benninga MA, Hennekam RC. Infantile hypertrophic pyloric stenosis--
genetics and syndromes. Nat Rev Gastroenterol Hepatol. 2012 Nov;9(11):646-60. doi:
10.1038/nrgastro.2012.133. Epub 2012 Jul 10.
[7] Evidence-based Clinical Practice Guideline for Hypertrophic Pyloric Stenosis.
Guideline 21, page 1-17, November 14, 2007.
[8] Sorensen, H. T., Norgard, B., Pedersen, L., Larsen, H. and Johnsen, S. P. Maternal
smoking and risk of hypertrophic infantile pyloric stenosis: 10 year population based
cohort study. BMJ 325, 1011–1012 (2002).
[9] Panteli C. New insights into the pathogenesis of infantile pyloric stenosis. Pediatr.
Surg Int 2009;25(12):1043–52.
[10] Hedback, G., Abrahamsson, K., Husberg, B., Granholm, T. and Oden, A. The
epidemiology of infantile hypertrophic pyloric stenosis in Sweden 1987–96. Arch. Dis.
Child. 85, 379–381 (2001).
[11] Saur D, Vanderwinden JM, Seidler B, et al. Single-nucleotide promoter polymorphism
alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic
pyloric stenosis. Proc Natl Acad Sci U S A 2004;101:1662-7.
[12] Hernanz-Schulman M, Sells LL, Ambrosino MM, Heller RM, Stein SM, Neblett WW
III. Hypertrophic pyloric stenosis in the infant without a palpable olive: accuracy of
sonographic diagnosis. Radiology 1994; 193:771–776.
[13] Hernanz Schulman M, Lowe LH, Johnson J, et al. In vivo visualization of pyloric
mucosal hypertrophy in infants with hypertrophic pyloric stenosis: is there an etiologic
role? AJR Am J Roentgenol 2001; 177:843–848.
[14] De Backer A, Bove T, Vandenplas Y, Peeters S, Deconinck P. Contribution of
endoscopy to early diagnosis of hypertrophic pyloric stenosis. J Pediatr Gastroenterol
Nutr 1994; 18:78–81.
[15] Macdessi J, Oates RK. Clinical diagnosis of pyloric stenosis: a declining art. Br Med J
1993;306:553-5.
[16] Hulka F, Campbell TJ, Campbell JR, et al. Evolution in the recognition.
[17] Hernanz-Schulman M. Pyloric stenosis: role of imaging. Pediatr Radiol 2009;
39(Suppl 2):S134-9.
[18] Ian Davies Infantile hypertrophic pyloric stenosis. Anaesthesia tutorial of the week
276.26 TH November 2012.
[19] Leaphart CL, Borland K, Kane TD, et al. Hypertrophic pyloric stenosis in newborns
younger than 21 days: remodeling the path of surgical intervention. J Pediatr Surg
2008;43(6):998-1001.
[20] Aspelund G, Langer JC. Current management of hypertrophic pyloric stenosis. Semin
Pediatr Surg 2007;16(1): 27-33.
[21] Coran AG, Caldamone A, Adzick NS, et al. Hypertrophic Pyloric Stenosis. In:
Pediatric Surgery. Elsevier Saunders, Philadelphia, PA, USA 2012;1021-8.
[22] Forster N, Haddad RL, Choroomi S, et al. Use of ultrasound in 187 infants with
suspected infantile hypertrophic pyloric stenosis. Australas Radiol 2007;51:560-3.
Chapter 2
INGUINAL HERNIA AND HYDROCELE
Chaima Mrad1, MD, Sofien Ghorbel2, MD, PhD

and Taieb Chouikh3,4,5, MD
1
2
Tunis School of Medecine, University El Manar, Tunis, Tunisia
3
Special Registrar, Formely Pediatric Surgery assistant Professor,
Tunis School of Medecine University, El Manar, Tunisia
4
Hôpital Universitaire Necker-Enfants malades Hospital, Paris, France
5
ABSTRACT
A hernia is defined as a protrusion of a portion of an organ or tissue through an
abnormal opening (defect) in the cavity containing it. In children, the abnormal defect,
which is congenital, is usually at the internal inguinal ring. In 1807, Cooper identified the
transversalis fascia and the ligament associated with his name (Cooper's ligament).
Cloquet observed in 1817 that the processus vaginalis is often patent at birth; he also
described the femoral hernias [1, 2].
EPIDEMIOLOGY
The incidence of congenital indirect inguinal hernia in full-term neonates is 3.5-5%. The
incidence of inguinal hernia in preterm infants is considerably higher and ranges from 9-11%.
The incidence approaches 60% as birth weight decreases from 500 to 750 g. Inguinal hernia is
more common in males than in females. Most series report a male predominance over females
ranging from 5-10-1. Co-morbidities such as chronic lung disease associated with prematurity
may play a substantial role in the development of an inguinal hernia in this population
(elevated intra-abdominal pressure) [1]. Other entities are associated with an increased
incidence of inguinal hernia (Table 1).
14 Chaima Mrad, Sofien Ghorbel and Taieb Chouikh
Table 1. The conditions associated with an increased incidence

of inguinal hernia in children
Conditions associated with an increased incidence of inguinal hernia

Prematurity
Cryptorchidism
Connective tissue disorders, mucopolysaccharidoses, congenital hip dislocation
Cystic fibrosis
Ascites, ventriculo-peritoneal shunt, peritoneal dialysis
Abdominal wall defects
Meningomyelocele
PATHOPHYSIOLOGY
Failure of obliteration of the PV (or canal of Nuck) leads to the occurrence of hernias and
hydroceles. Obliteration of the distal PV with the proximal portion still patent will lead to
intestines herniating into it, resulting in the formation of an indirect inguinal hernia confined
to the inguinal region (Figure 1c).
a b c d
Figure 1. Failure of obliteration of the precessus vaginalis (PV).
In the case of complete failure of obliteration of the whole PV with a wide neck, an
inguino-scrotal (complete, scrotal) hernia will be the outcome (Figure 1d). Congenital
hydroceles formed after the failure of fusion of the PV may be communicating or
noncommunicating (Figure 1a-b). In the case of females in which the canal of Nuck is patent,
a hernia (usually containing intestine or ovary and fallopian tube) will form [3].
Inguinal Hernia and Hydrocele 15
CLINICAL PRESENTATION
Inguinal Hernia
There is usually a history of an asymptomatic bulge or mass in the groin or scrotum or

labia, which is intermittent. The mass appears on crying in the infant or younger child; in the
older child, it may appear with coughing or walking or playing (on increasing the intra-
abdominal pressure). It disappears spontaneously (when the contents completely return to the
peritoneal cavity) or by application of gentle pressure. The mass usually does not cause pain
or much discomfort to the child. Scrotal enlargement and frequent change in scrotal size may
be noted, and are the result of fluid or bowel transfer between the peritoneal cavity and the
sac. If there is a history of a painful bulge, with a fussy child, unwilling to feed and crying
inconsolably, we must suspect the presence of an incarcerated inguinal hernia. The child may
be vomiting and have abdominal distention develop an irregular bowl habit [4, 5].
Physical Examination
The physical examination of a child with an inguinal hernia typically reveals a smooth
mass originating from the external ring lateral to the pubic tubercle. Occasionally, the
examining physician may feel the loops of intestine within the hernia sac. In girls, feeling the
ovary in the hernia sac is not unusual [4]. One of the following procedures will increase the
intra-abdominal pressure in order to demonstrate a groin mass.
 Lie the infant supine with the hands held above the head and the lower limbs held
straight down. This makes the child strain or cry, causing the bulge to appear if it is
actually present. Standing the patient upright may help at times.
 Ask the older child to jump or bounce up and down
 Ask the older child (>6 years of age) to cough or blow up a balloon [3].
In the case where there is no bulge but there is the suspicion that a hernia sac may be
present, gentle but firm palpation the cord structures in the male child or the round ligament
of the ovary in the female child, sliding the structure over the pubic bone beneath the index
finger medially and laterally. This will elicit a palpable thickening of the cord (or ligament of
the ovary), the sensation may be similar to that of rubbing two layers of silk together. This
finding is known as the “silk sign” or “silk glove sign” and is highly suggestive of an inguinal
hernia [3]. An inguinal hernia, if present, may be reducible or irreducible. A reducible IH is
one in which the contents of the sac return spontaneously to the peritoneal cavity or will do so
with gentle manual pressure when the child is recumbent. In such situations, there is usually
no pain associated with the mass. For an irreducible inguinal hernia, the lump will not reduce
spontaneously when the child lies supine, but may sometimes be reduced if some amount of
pressure is exerted. The contents of the sac are trapped by a narrow neck. An irreducible
hernia may or may not be tender. In the case of irreducible hernia, the herniated viscera
(usually loops of intestines) become engorged, edematous, and trapped inside the inguinal
canal. Severe tenderness of the bulge will occur, and oedema and erythema of the overlying
skin will appear. In such a case, the child may pass bloody stools. Ischemic necrosis and
intestinal perforation may result, representing a true surgical emergency.
Hydrocele
History and clinical examination is important when differentiating hydrocele from hernia.
Parents often describe a painless swelling within the scrotum appearing larger in the evening
than the morning or following a viral infection. Examination reveals a fluctuant painless
swelling, which may be reducible. Trans-illumination reveals a fluid filled scrotum, which
may be bilateral. Palpation above the swelling is possible, except in the case of a large
abdominoscrotal hydrocele. Trans-illumination has been advocated as a means of
distinguishing between hydrocele and hernia. However, in cases of inguinal hernia
incarceration, trans-illumination may be equivocal, because any viscera that are distended and
fluid-filled in the scrotum of a young infant may also trans-illuminate [4, 5].
INVESTIGATIONS
The diagnosis of inguinal hernia in the majority of cases is clinical (history and
examination). In the few cases where the diagnosis cannot be made immediately, the child
needs to be re-examined over a period of time to make a definitive diagnosis (2-3 weeks).
Some authors advocate the use of ultrasound in detecting contralateral PPV prior to hernia
surgery in children.
COMPLICATIONS
Complications of an inguinal hernia include incarceration, intestinal obstruction,
strangulation, gangrene of bowel, perforation of bowel, peritonitis, intraabdominal abscess
formation, infarction of the testis, testicular atrophy, gangrene of the ovary and/or fallopian
tube, and infertility.
TREATMENT
Inguinal hernias do not heal spontaneously and must be surgically repaired because of the
ever-present risk of incarceration. In case of premature infants, with significantly increased
incidence of bowel incarceration, many institutions use 2 Kg as a lower limit for repair (in
asymptomatic and otherwise relatively healthy new-born). Hydroceles that are asymptomatic
should be observed until the child is about 2 years old, at which time the patent processus
vaginalis should close spontaneously. If a hydrocele does not resolve spontaneously by then,
surgery is advised [1].
Reduction of Inguinal Hernia (Taxis)
The incidence of incarceration is variable and ranges from 12 to 17% [1]. Younger age
and prematurity are risk factors for incarceration. Monitored conscious sedation is used after
intravenous access and rehydration. If the incarcerated hernia is on the right side, the thumb
and index finger of the left hand are placed on either side of the external inguinal ring (where
the mass is usually obstructed). The fingers of the right hand compress the fundus of the
hernia gently but firmly. The pressure should be gentle, firm, and sustained. Meanwhile, the
thumb and the index finger of the left hand attempt to disimpact the neck of the hernia from
the narrow external inguinal ring and also prevent the contents of the sac from spreading to
the sides and outwards Successful reduction is usually confirmed by a sudden “pop” of the
contents back into the peritoneal cavity. 90-95% of incarcerated hernias can be successfully
reduced, only 8% require emergency operation. If the incarcerated hernia is reduced, a delay
of 24 to 48 hours to allow resolution of edema is recommended [1]. The presence of
peritonitis or septic shick is an absolute contraindication to attempt reduction. Symptoms of
bowel obstruction are a relative contraindication.
Surgery
Open Approach [6]

General anaesthesia with endotracheal intubation is preferred in small infants. However,
regional analgesia methods have attracted increasing interest: caudal block, lumbar epidural
block, ilio-inguinal nerve block have been used with varying success. Spinal anesthesia has
become a popular technique with low birth-weight infants [7].
Figure 2a. Inguinal incision.

Figure 2b. Dissection of the hernial sac.
Figure 2c. Closure of the hernial sac.
The infant is placed in the supine position, a 1.5 cm transverse inguinal skin cease
incision is placed above and lateral to the pubic tubercle (Figure 2a). The subcutaneous fat
and the fascia of Scarpa are opened. The external oblique aponevrosis and external ring are
exposed. Depending on the size of the hernia and the age of the child, a decision is made
whether to open the external oblique aponevrosis or not. In neonates and infants, the external
inguinal ring almost overlies the internal inguinal ring, so there may not be the need to open
the aponeurosis. In large hernias, it is advisable to incise the aponeurosis (Incision in the long
axis of its fibers, care is taken to minimize injury of the ilio-inguinal nerve).
The external spermatic fascia and cremaster are separated along the length of the cord.
The hernial sac is seen and gently separated from the vas and vessels (Figure 2b). The sac is
divided between the clamps and twisted (to reduce its content into the abdominal cavity)
(Figure 2c).
The sac is transfixed with a stitch at the level of internal ring. The sac beyond the stitch is
usually excised.
In the case of hydrocele, the distal part of the sac is widely slit allowing adequate
drainage of the fluid.
In girls, there is no risk for the vas or the vessels, and the external orifice can be closed
after excision of the sac. Subcutaneous tissues are approximated using two to three
interrupted stitches; the skin is closed with a continuous subcuticular suture. Findings in a
hernia sac may include intestines, ovary with the fallopian tube, uterus (rare), ovotestis,
omentum (in older children), appendix (Amyand’s hernia) Meckel’s diverticulum (Littre’s
hernia), or Richter’s hernia (entrapment of a portion of the antimesenteric wall of the bowel in
the hernia sac). A controversial topic concerns the routine exploration of the contra-lateral
side for an inguinal hernia. It is known that more than 50% of children younger than 2 years
of age have a patent processus vaginalis, but only about 10% will eventually develop a
clinical hernia. Younger age, female gender and a left-sided unilateral hernia are used as
selection criteria for contra-lateral exploration [1].
Laparoscopic Approach
The technique affords confirmation of the diagnosis as well as inspection of the
contralateral side for the presence of a hernia or patent processus vaginalis.
A 5-mm laparoscope is inserted at the umbilicus, and 2 additional 3-mm trocars are
placed at the left and right midabdomen. If bowel or ovary was found in the hernia sac, it was
pulled back.
The internal inguinal ring is closed with sutures starting laterally and including some
tissues from medial to the epigastric vessels. We take care to create a loose fold around the
gonadal vessels and the vas to avoid mechanical pressure on both structures when the knot is
closed [8].
Post-Operative Care
Most patients who undergo elective repair of an inguinal hernia are discharged from the
hospital shortly after surgery. Overnight observation is indicated only in small premature
babies who are at risk for postoperative apnea. Scrotal swelling and bruising after surgery are
very common and may last for 1–3 weeks.
Figure 3. Continued
Figure 3. Laparoscopic repair of inguinal hernia (DR Chouikh).
A: Large opened inguinal ring containing an epiploic flap.

B: Closed inguinal ring after the dissection.
Post Operative Complications
Complications of herniotomy can be immediate, early, or late. The immediate
complications will include anaesthetic complications, such as nausea, vomiting, and laryngeal
spasm or oedema. Other immediate complications are haemorrhage (which should be rare if
haemostasis is meticulous) and haematoma formation in the wound. If the vas deferens is
transected intra-operatively and this is noticed, then it should be repaired by using fine
monofilament sutures.
The Early Complications

Haematoma formation in the wound or scrotum; such haematoma will slowly resolve in
3–5 weeks if there is no superimposed infection;
Wound infection, which may occur as a result of anaemia and malnutrition in patients and
especially after repair of incarcerated hernias;
 Intestinal obstruction; (iatrogenic trauma of the bowel)

 Iatrogenic trauma to urinary bladder.
Late Complications Comprise

Undescended testis or high testis due to the fact that the surgeon did not make sure the
testis was replaced in the scrotum when closing the inguinal incision;
Recurrence of the inguinal hernia: less than 1% (causes of recurrence include infection
and missing the hernia sac during the first operation) [1, 7]; Testicular atrophy as a result of a
section of the vessels during the operation or, in the case of children presenting with
incarcerated hernias, with evidence of infarction of the testis at operation; Infarction of the
ovary and fallopian tube (rare);
 Hypo fertility or infertility if injury to the vas deferens is bilateral or is to the vas
deferens of a solitary testis
REFERENCES
[1] Holcomb III, George W., Jerry D. Murphy, and Daniel J. Ostlie. Ashcraft's Pediatric
Surgery: Expert Consult. Elsevier Health Sciences, 2014.
[2] Van Hee, R. “History of inguinal hernia repair.” Journal de Chirurgie 7.3 (2011).
[3] Abantanga, Francis A., and Kokila Lakhoo. “Inguinal and femoral hernias and
hydroceles.” Paediatric Surgery: A Comprehensive Text for Africa. Seattle,
Washington: Global Help (2010): 358-65.
[4] Mattei, Peter. Fundamentals of pediatric surgery. Springer Science and Business
Media, 2011.
[5] International, Pediatric Endosurgery Group. “IPEG Guidelines for Inguinal Hernia and
Hydrocele.” Journal of laparoendoscopic and advanced surgical techniques. Part A
20.2 (2010).
[6] Heineman, E. “Pediatric surgery, springer surgery atlas series. P. Puri and M. Höllwarth
(eds) 205× 275 mm. Pp. 632. Illustrated. 2006. Springer: Heidelberg.” (2006).
[7] Grosfeld, J. L., SCOTT A. Engum, and PAUL KH Tam. Hernias in children. Eds. L.
Spitz, and A. Coran. Boca Raton, FL: CRC Press, 2013.
[8] Schier, Felix. “Laparoscopic inguinal hernia repair—a prospective personal series of
542 children.” Journal of pediatric surgery 41.6 (2006): 1081-1084.
Chapter 3
UMBILICAL HERNIA
Chaima Mrad1, MD, Taieb Chouikh2,3,4,, MD

1
2
Special Registrar, Formely Pediatric Surgery assistant Professor,
Tunis School of Medecine University, El Manar, Tunisia
3
4
5
Formely Pediatric Surgery Professor, Tunis School of Medecine University,
El Manar, Tunisia
ABSTRACT
Umbilical hernia is a common disorder in infants and young children. The hernia sac
protrudes through a defect in the umbilical ring. Although the defect is present at birth,
unlike other hernias of childhood, an umbilical hernia may resolve without the need for
surgery [1].
Keywords: Umbilical Hernia, Surgery, Time of surgery
EMBRYOLOGY AND ANATOMY

At birth, the contracted umbilical ring is normally reinforced by the round ligament
(umbilical vein), urachus, lateral umbilical ligaments (vestigial umbilical arteries), and
Richet’s umbilical fascia (a subumbilical extension of transversalis fascia). Incomplete
development, imperfect attachment, or weak areas in either ligamentous or fascial structures

E-mail: [email protected].
may predispose to herniation at the umbilicus. In an umbilical hernia, the hernia protrusion is
composed of peritoneum adherent to the undersurface of the umbilical skin.
INCIDENCE
The incidence of umbilical hernia in the general population varies with age, race,
gestational age, and coexisting disorders. The incidence in Caucasian newborns is
approximately 5–10% and 2-18.5%; a greater incidence of 26.6% and 25-58% has been
recorded in African infants [4].
There is a close association between umbilical hernias and low birthweight. Vohr et al.
reported that 75% of infants with a birth weight of less than 1500 g presented with an
umbilical hernia by 3 months of age [5]. Infants with certain other conditions have an
increased incidence of umbilical hernia, such as Beckwith-Wiedemann syndrome, Hurler's
syndrome, various trisomy conditions (trisomy 13, 18, 21), congenital hypothyroidism,
mucopolysaccharidoses, presence of ascites and children requiring peritoneal dialysis [1].
Umbilical hernias are most often noted after separation of the umbilical cord remnant.
The umbilical bulge becomes more apparent during episodes of crying, straining, or even
during defecation, and may result in considerable protrusion of the sac and, at times, visceral
contents through the ring. The hernial protrusion is composed of peritoneum adherent to the
undersurface of the umbilical skin [2].
SURGICAL INDICATIONS
An umbilical hernia may cause considerable parental anxiety and often results in requests
for operative repair in early infancy. Because most umbilical hernias will close
spontaneously, it is very safe to simply observe the hernia until age 3 to 4 years to allow
closure to occur. Pressure dressings and other devices to keep the hernia reduced do not speed
the resolution and may result in skin irritation and breakdown and are therefore not advisable.
Spontaneous resolution rates range from 83-95% by 6 years of age [1]. Hernias with a
diameter greater than 1.5 cm are less likely to close on their own. “Proboscoid” hernias that
turn inferiorly as they protrude are less likely to resolve spontaneously [3]. Persistence of the
hernia is the most common reason for operation. If the hernia persists as the child approaches
school age (4-5 years of age), repair is recommended. Earlier repair (at age 2-3 years) is
warranted if there is no reduction in the size of the hernia defect with serial observations.
Fascial defects greater than 2.0 cm and “giant proboscoid hernias” should also be considered
for earlier repair [3].
Incarceration of an umbilical hernia is rare. Lassaletta et al. reported 28 cases of
incarceration in 377 umbilical hernias, an incidence of 7.4%. Strangulation of hernial
contents, intestine or omentum, is extremely rare and was found in only one case (0.26%) [7].
Umbilical Hernia 25
Spontaneous rupture of an umbilical hernia remains exceptional [8]. B. Zendejas et al.

reported only one case in a study including 489 children managed in 53 years [9].
SURGICAL TECHNIQUE [3-10]

Umbilical hernia repair is usually performed as a daycare procedure under general
anesthesia. A semicircular incision is made in the skin crease immediately below (or above)
the umbilicus. Grasping the redundant umbilical skin and applying traction to the abdominal
wall facilitates the incision. The subcutaneous layers are dissected in order to expose the
hernia sac. By blunt dissection, a plane is developed on both sides of the sac and the sac is
encircled and is divided. Any contents in the sac are reduced into the peritoneal cavity. The
defect is closed by interrupted 2-0 absorbable sutures. Fascial sutures placed sequentially
until the entire defect is controlled. Sutures are not initially tied to maintain control of the
edge of the defect and avoid visceral injury. All of the sutures are then tied. A stitch is used to
invaginate the umbilical scar, tractioning it downwards and fixing it to the subcutaneous layer
in the midline. The wound is closed with several interrupted sutures.
POST-OPERATIVE COMPLICATIONS
Postoperative complications after umbilical hernia repair are uncommon but include
wound infection (0.8%) and hematoma (1.3%). Recurrence of the umbilical hernia is rare,
occurring in one out of 377 repairs in the series from Lassaletta et al. [7].
REFERENCES
[1] Holcomb I. I. I., George W., Jerry D. Murphy, and Daniel J. Ostlie. Ashcraft's Pediatric
[2] Grosfeld, J. L., SCOTT A. Engum, and PAUL KH Tam. Hernias in children. Eds. L.
Spitz, and A. Coran. Boca Raton, FL: CRC Press, 2013.
[3] Cilley, Robert E., and Serene Shereef. "Umbilical hernia repair". Operative Techniques
in General Surgery, 6.4 (2004): 244-252.
[4] Crump, E. P. Umbilical hernia. I. Occurrence of the infantile type in Negro infants and
children. J. Pediatr., 1952; 40:214–223.
[5] Vohr, B. R., Rosenfield, A. G., and Oh, W. Umbilical hernia in the low-birth-weight
infant (less than 1,500 gm). J. Pediatr., 1977; 90:807–808.
[6] Cilley, R. E. and Krummel, T. M. Disorders of the umbilicus. In O’Niell, J. A. Jr.,
Rowe, M. I., Grosfeld, J. L., Fonkalsrud, E. W., and Coran, A. G., eds. Pediatric
Surgery. Mosby, 1998; 1029–1043.
[7] Lassaletta, L., Fonkalsrud, E. W., Tovar, J. A. et al. The management of umbilicial
hernias in infancy and childhood. J. Pediatr. Surg., 1975; 10: 405–409.
[8] Taieb Chouikh, Ahmed Khan, Belkhir Dahmane, Anis Echaieb, Dany Haddad, Georges
Audry, Claire Raquillet Uncommon complication of pediatric umbilical hernia:
Spontaneous evisceration. Case report and literature review Journal of Pediatric
Surgery Case Reports Published online: October 9 2015.
[9] Zendejas, Benjamin, et al. "Fifty-three–year experience with pediatric umbilical hernia
repairs". Journal of pediatric surgery, 46.11 (2011): 2151-2156.
[10] Puri, Prem, and Michael E. Höllwarth. Pediatric surgery: diagnosis and management.
Springer Science and Business Media, 2009.
Chapter 4
INTUSSUSCEPTION
Chaima Mrad1, MD and Taieb Chouikh2,*, MD

1
2
Special Registrar, Formely Pediatric Surgery assistant Professor
Tunis School of Medecine University El Manar Tunisia,
Hopital Robert Ballanger Bd Robert Ballanger, Aulnay sous bois France
ABSTRACT
Intussusception is the acquired invagination of one portion of the intestine (the
intussusceptum) into the adjacent bowel (the intussuscipiens) with a further motion of the
intussusception into the intussuscipiens by peristalsis [1, 2, 3]. The most common form is
ileocolic in 80-90% of cases, the ileo-ileal form occurs in up to 15%. The caeco-colic,
colo-colic and jejuno-jejunal forms are rare [2].
Keywords: intestinal occlusion, emergency, intussusception, hydrostatic reduction, surgery
INCIDENCE
Intussusception occurs most commonly between the ages of two months and two years,
with 50% of cases occurring between three and ten months of age [4, 5].
The condition has been described in premature infants and has been postulated as the
cause of small bowel atresia in some cases [6]. Most patients are well-nourished and healthy
children [1].
* Corresponding
author: [email protected].
28 Chaima Mrad and Taieb Chouikh
PATHOPHYSIOLOGY
The antegrade peristalsis of the bowel moves a segment of intestine forward into the
adjacent distal intestine. As the proximal segment invaginates into the distal bowel, the
mesentery, and the vessels are compressed between the layers of the bowel, which provokes
an impaired venous return, edema, and congestion.
The proximal small intestine becomes dilated, and if the reduction of the intussusception
does not occur, arterial insufficiency will ultimately lead to ischemia and bowel wall necrosis.
The innermost layers of the bowel are the first to undergo vascular compromise and
perforation. The outer layers of the intussusception rarely lose their viability. Although
spontaneous reduction undoubtedly occurs, the natural history of intussusceptions is to
progress to a fatal outcome as a result of sepsis [1, 4]. Moreover, there is bleeding and
discharge of mucus, which has been described as red currant jelly stool.
Idiopathic or Primary Intussusception
The vast majority of cases of intussusception (80-90%) does not have a pathologic lead
point and are classified as primary or idiopathic [3]. Lymphoid hyperplasia within the
intestine may result in enlarged Peyer’s patches, which serve as the lead point for
intussusception in these cases [4].
The seasonal increase of intussusception in spring and winter suggests a link with viral
respiratory and enteric infections.
Adenovirus and Rotavirus have been identified in 50% of children with gastroenteritis
who develop intussusceptions. Respiratory syncytial virus (RSV) and human herpes virus
6 (HHV-6) have been reported as associated with higher rates of intussusception as well [7, 8,
9, 10].
Secondary Intussusception
An identifiable lesion serves as a lead point, drawing the proximal bowel into the distal
one by peristaltic activity. A pathological cause is present in 1.5 to 12% of cases [1]. It occurs
more commonly outside the typical age range and in recurrent intussusception [4]. The
following table shows the common pathological lead points in intussusception (Table 1):
Table 1.Common pathological lead points:
Meckel’s diverticulum
Polyps (Peutz–Jeghers syndrome)
Submucosal haematomas
Tumors
Henoch-Schonlein purpura
Duplication of the bowel
Cystic fibrosis
Lymphomas and melanomas
Intussusception 29
The classic presentation is a sudden onset of symptoms in a previously healthy infant
between five and nine months of age.
80 to 100% of children have intermittent abdominal pain, usually with episodes of
screaming and anorexia every 15–20 minutes. Typically these attacks cease as promptly as
they started, and the child is quiet in between.
Vomiting of undigested food is noted in 80% of the cases.
The passage of blood and mucus (redcurrant jelly) may be seen in up to 60% while
diarrhea is present in 20% of cases. The complete triad of vomiting, colicky pain, and bloody
stools is observed in approximately one-third of patients [4]. Subsequently, the child becomes
lethargic between episodes, develops increasing abdominal distension, bilious vomiting, and
dehydration.
PHYSICAL EXAMINATION
In an early course of the disease, the child's vital signs are usually normal, and the
physical examination may be unremarkable.
Careful abdominal examination in a quiet and cooperative infant may reveal the presence
of mass at the right upper quadrant. The right lower abdominal quadrant may appear flat or
empty (Dance’s sign) as the intussuscepted mass is pulled up [1]. On rectal examination,
blood-stained mucus or blood may be encountered [2]
Palpation of the intussuscepted mass on bimanual examination is possible.
Rarely a cervix-shaped mass is seen protruding beyond the anus.
If there has been a delay in seeking medical attention, dehydration may occur, with a
profoundly lethargic child.
The presence of fever and tachycardia may reflect bacteremia.
DIAGNOSIS
Laboratory Tests
Electrolyte abnormalities due to dehydration can be found and are associated with
delayed forms. Anemia and/or leukocytosis can also be found in laboratory studies.
Abdominal X-Ray
Plain abdominal X-ray may show suggestive abnormalities as an abdominal mass,

abnormal distribution of gas and air-fluid levels in case of bowel obstruction. It can also
reveal pneumoperitoneum in the case of intestinal perforation.
The “target sign” or “coiled spring sign” denotes a cross-sectional appearance of the
invaginated bowel. The “meniscus sign” is a crescent-shaped lucency in the colon outlinig the
distal end of the intussusception (Figure 1). However, the most common finding is a normal
plain film. Recent studies suggest that the abdominal radiography is inaccurate in the
diagnosis of intussusception. Others showed that the abdominal x-rays have a sensitivity of
only 29% to 50% [1, 11, 12, 13].
Figure 1. The meniscus sign on abdominal X Ray.
Abdominal Ultra-Sonography (US)
The value of US in the diagnosis of intussusception has been well documented in the
literature, with a high reported sensitivity (98–100%) and specificity (88–100%) [14, 15, 16].
The intussusception is usually discovered on the right side of the abdomen. The characteristic
US features of intussusception include a hypoechoic outer rim of homogeneous thickness
with a central hyperechoic core on a transverse plane: doughnut or target sign (Figure 2) and a
hyperechoic tubular center covered on each side by a hypoechoic rim on a longitudinal plane:
pseudo kidney or sandwich sign (Figure 3) [17].
The amount of free fluid within the peritoneal cavity can be determined, and Doppler can
be used to record blood flow within the intussusception. Abdominal Ultrasound is useful not
only for diagnosing intussusception but also for identifying the pathologic lead points of the
intussusception. Although computerized tomography and magnetic resonance imaging can be
used for diagnosis, it is often not necessary given the diagnostic accuracy of ultrasonography.
Intussusception 31
Figure 2. Abdominal US: The target sign.
Figure 3. Abdominal US: The sandwich sign.
Treatment
Resuscitation
Intravenous access should be obtained and fluid resuscitation initiated. A nasogastric tube
is inserted to decompress the stomach.
Non-Operative Management
Absolute contraindications of non-operative reduction are intestinal perforation (free
intra-abdominal air), peritonitis, or persistent hypotension.
Hydrostatic Reduction
The hydrostatic reduction can be performed with barium under fluoroscopic guidance or
with water-soluble isotonic contrast (which is preferred because of the potential risk of
barium peritonitis in patients with perforation). The enema has a diagnostic and therapeutic
interest. After adequate resuscitation, in a pre-medicated child, a large, lubricated catheter is
inserted into the rectum. The hydrostatic reduction is kept at a height of 3 feet above the
patient and no more than three attempts, with each attempt no more than 3 minutes. At this
height, the pressure exerted on the intussusception is 120 mmHg. Under fluoroscopic
evaluation, the contrast agent is observed until a concave filling defect is seen. This has been
described as the crab claw sign. (Figure 4) Constant hydrostatic pressure is continued as long
as reduction is occurring [1, 3].
Figure 4. The crab claw sign.
Pneumatic Reduction [3]

Pneumoenema is a cheap, safe, and effective option for the treatment of intussusception.
When compared with barium the fluoroscopy screening times are shorter. The procedure is
fluoroscopically monitored as air is insufflated into the rectum. The maximum safe air
pressure is 80 to 120 mmHg. Two attempts are made of 5 min duration each with 10-min
interval between each attempt.
Carbon dioxid can be used instead of air because of the advantages of rapid reabsorption
and less abdominal discomfort.
Ultra-Sound Guided Reduction

Ultrasound-guided reduction using water (diluted with water-soluble contrast at a ratio of
9:1) has also been reported. Although there is no radiation, exposure in ultrasound-guided
saline reduction and success rates are higher expertise in sonography is required to perform
the procedure [3].
Reduction Criteria
The hydrostatic reduction is complete when the contrast medium freely flows the
ileocaecal valve into the terminal ileum (Figure 5). Successful reduction in uncomplicated
patients is seen in about 85% of cases (42-95%).
Intussusception 33
Figure 5. Complete hydrostatic reduction.
Air-enema reduction is successful in 75–80% of cases. This is confirmed radiologically

with reflux of air back into the small intestine [4].
Clinically, the infant must show an overall complete improvement and lethargy should
disappear, with a return of flatus and faeces.
After successful nonoperative reduction, the patient should be admitted for observation
and should receive a short period of bowel rest and intravenous fluids.
Any clinical signs of abdominal pain could be a sign of ischemia bowel or recurrent
intussusception.
Recurrent Intussusception
Recurrent intussusception has been reported in 10% of children who undergo pneumatic
or hydrostatic reduction. Although 30–60% of recurrences occur within 72h, [3] recurrences,
have been reported up to 36 months after reduction. The success rates of nonoperative
reduction for recurrent intussusception are the same as with the first episode. There is no
indication for a laparotomy in recurrent intussusception unless there is suspicion of a
pathological lead point as is the case in children over three years of age and in children with
multiple recurrences [2].
Operative Treatment
Indications for Surgery

Surgery is indicated when the non-operative reduction is unsuccessful or incomplete.
A residual intraluminal filling defect even with terminal reflux into the ileum has to be
considered as incomplete reduction.
Surgery is also indicated for the presence of a pathologic lead point and with evidence of
a critically ill patient with peritonitis by perforation or by necrosis, as well as in a septic
status.
Open Surgery
The site of the incision must be adapted to the position of the apex of the intussusception.
As soon as abdominal cavity is entered, free peritoneal fluid is aspirated.
The manual reduction has to be performed very carefully and slowly. Taking the apex of
intussusception between fingers and cup of the surgeon's hand at the distal end, the
intussusception is squeezed gently in a retrograde direction distally to proximally.
Excessive force or pulling is avoided to prevent injury or perforation of the bowel.
Appendectomy is usually performed.
Inability to manually reduce the intussusception, the finding of ischemic bowel, or
identification of a pathologic lesion requires surgical resection and bowel anastomosis or
diversion, depending on the condition of the intestine and the child.
Laparoscopic Approach
Laparoscopy might be a diagnostic or therapeutic tool. Various techniques have been
reported, but the majority of minimally invasive procedures describe the use of three
abdominal ports. The laparoscopic reduction is accomplished by applying gentle pressure
distal to the intussusceptum using atraumatic graspers.
Careful inspection is then performed to evaluate for any signs of ischemia, necrosis or
perforation.
If a resection is required, this can be accomplished by exteriorizing the bowel through the
periumbilical incision. If this cannot be accomplished safely, the operation should be
converted to an open laparotomy.
Post-Operative Care
In cases without resection, a nasogastric tube is kept for 1 to 2 days and patients are kept
on intravenous lines.
In cases of resection, the post-operative course is prolonged.
Patients may be discharged as soon as taking sufficient fluid and having a bowel motion.
Parents should be informed whether an appendectomy has been performed or not, they
should also be told about the risk of recurrence of intussusception.
CONCLUSION
Intussusception is very common among infants. Clinical signs are variable and often
incomplete. When diagnosed, the non-operative reduction is possible.
Surgery includes manual reduction or resection of the bowel.
REFERENCES
[1] Holcomb III, G. W., Murphy, J. D. and Ostlie, D. J. (2014). Ashcraft's pediatric
surgery. Elsevier Health Sciences.
[2] Höllwarth, M. E. and Puri, P. (Eds.). (2006). Pediatric Surgery: Springer Surgery Atlas
Series. Springer.
Intussusception 35
[3] Puri, P. and Höllwarth, M. E. (Eds.). (2009). Pediatric surgery: diagnosis and
management. Springer Science and Business Media.
[4] Burge, D. M., Griffiths, M. D., Steinbrecher, H. A. and Wheeler, R. A. (Eds.). (2005).
Paediatric surgery. CRC Press.
[5] Takeuchi, M., Osamura, T., Yasunaga, H., Horiguchi, H., Hashimoto, H. and Matsuda,
S. (2012). Intussusception among Japanese children: an epidemiologic study using an
administrative database. BMC pediatrics, 12(1), 36.
[6] Chouikh, T., Charieg, A., Mrad, C., Ghorbel, S., Saada, S., Benkhalifa, S. and Jlidi, S.
(2014). Intestinal atresia caused by intrauterine intussusception: A case report and
literature review. Journal of Pediatric Surgery Case Reports,2(4), 203-205.
[7] Hsu, H. Y., Kao, C. L., Huang, L. M., Ni, Y. H., Lai, H. S., Lin, F. Y. and Chang, M. H.
(1998). Viral etiology of intussusception in Taiwanese childhood. The Pediatric
infectious disease journal, 17(10), 893-898.
[8] Bines, J. E., Liem, N. T., Justice, F. A., Son, T. N., Kirkwood, C. D., De Campo, M.
and Intussusception Study Group. (2006). Risk factors for intussusception in infants in
Vietnam and Australia: adenovirus implicated, but not rotavirus. The Journal of
pediatrics, 149(4), 452-460.
[9] Moore, F. O., Berne, J. D., Slamon, N. B., Penfil, S. H. and Dunn, S. P. (2006).
Intussusception in a child with respiratory syncytial virus: a new association. Delaware
medical journal, 78(5), 185-187.
[10] Lappalainen, S., Ylitalo, S., Arola, A., Halkosalo, A., Räsänen, S. and Vesikari, T.
(2012). Simultaneous presence of human herpesvirus 6 and adenovirus infections in
intestinal intussusception of young children. Acta Paediatrica,101(6), 663-670.
[11] Weihmiller, S. N., Buonomo, C. and Bachur, R. (2011). Risk stratification of children
being evaluated for intussusception. Pediatrics, peds-2010.
[12] Tareen, F., Mc Laughlin, D., Cianci, F., Hoare, S. M., Sweeney, B., Mortell, A. and
Puri, P. (2016). Abdominal radiography is not necessary in children with
intussusception. Pediatric surgery international, 32(1), 89-92.
[13] Mendez, D., Caviness, A. C., Ma, L. and Macias, C. C. (2012). The diagnostic accuracy
of an abdominal radiograph with signs and symptoms of intussusception. The American
journal of emergency medicine, 30(3), 426-431.
[14] Del-Pozo, G., Albillos, J. C., Tejedor, D., Calero, R., Rasero, M., de-la-Calle, U. and
López-Pacheco, U. (1999). Intussusception in children: current concepts in diagnosis
and enema reduction. Radiographics, 19(2), 299-319.
[15] Hernandez, J. A., Swischuk, L. E. and Angel, C. A. (2004). Validity of plain films in
intussusception. Emergency radiology, 10(6), 323-326.
[16] Verschelden, P., Filiatrault, D., Garel, L., Grignon, A., Perreault, G., Boisvert, J. and
Dubois, J. (1992). Intussusception in children: reliability of US in diagnosis--a
prospective study. Radiology, 184(3), 741-744.
[17] Lim, K. J., Lee, K., Yoon, D. Y., Moon, J. H., Lee, H., Kim, M. J. and Kim, S. S.
(2014). The role of US in finding intussusception and alternative diagnosis: a report of
100 pediatric cases. Acta Radiologica, 0284185114524088.
Chapter 5
APPENDICITIS
Henri Kotobi1,*, MD and Taieb Chouikh2,†, MD

1
Pediatric Surgery Department, Hôpital Universitaire Armand Trousseau, Paris, France
2
Tunis School of Medecine University El Manar, Tunisia
Hopital Robert Ballanger, Aulnay-sous-Bois, France
ABSTRACT
Acute appendicitis (AA) remains the most common visceral paediatric surgery
emergency in developed countries [1]. Since the 90s, the radiological progress allowed a
considerable improvement in the diagnosis of acute paediatric appendicitis. Nevertheless,
it is not always easy to have an accurate diagnosis.
Two risks persist in the management of acute paediatric appendicitis: the delay in the
diagnosis and a high rate of false positive diagnosis, which justifies being interested in
this entity in all points of view (epidemiological, diagnosis and therapeutic management).
Keywords: abdominal pain, emergency, appendicitis, surgery, laparoscopy
CLINICAL OBSERVATION
Since the beginning of the 2000s, clinical features seem to have passed in the background
in the diagnosis of AA. The Reasons for such evolution are numerous: Physical examination
is subjective and depends on the examinator. Radiological explorations are often prescribed
by the emergency doctors before the surgeon examines the patient. Moreover the existence
ofmissed diagnosis, and the obligation to make diagnosis, pushes the clinicians to lean on
radiological explorations to decide about the management of the patients. Despite this,
*
MD, Pediatric Surgeon.
†
MD, Special Registrar, Formely Pediatric Surgery assistant Professor.
38 Henri Kotobi and Taieb Chouikh
clinical examination remains necessary to establish the definite diagnosis of acute

appendicitis, to recognize the complicated forms (abdominal mass, local or general abdominal
guarding), or to suspect possible other diagnoses Right pneumonia, rheumatoid purpura,
nephrotic syndrome, renal colic, urinary tract infection, torsion of testis) The clinical
examination must be led open-minded (without an influence of the transfer letter or previous
explorations), in a calm place, respecting virtuousness and confidentiality, with the presence
of the parents. It begins with asking the parents and of the child (if he is in age to answer)
about the case history, the questions specifies the beginning of symptoms. It allows
determining the presence of transit disturbances, vomiting and loss of appetite.
General examination continues with the inspection of the walk (the ability to go up on the
examination table), of the face (pallor, saburral tongue, etc…), of the abdomen (scars,
distension), of movements of the abdominal wall. Then the clinical examination of the
abdomen is made with warmed hands. It begins with the area supposed to be the least painful,
looking for tenderness, guarding, rigidity, signs of peritoneal irritation (Blumberg sign:
rebound tenderness of the right iliac fossa, Rovsing Sign: Right abdominal pain induced by a
deep palpation of the left iliac fossa). The abdominal clinical examination will end with the
examination of genitalia. In boys testicular examination (pain, redness, discharge and
swelling) and girls (swelling, discharge).
Rectal examination is no more recommended in case of children abdominal pain. Indeed,
it’s a traumatic without using nitrous oxide, and the use of this gas will remove the interest of
this examination.
At last it is necessary to remind that the temperature measure and Urinalysis by strip must
stay mandatory in all the cases of abdominal pain.
LABORATORY INVESTIGATIONS
Blood tests should be performed each time an acute appendicitis is suspected. Full blood
count and C-reactive protein analysis will search for the inflammatory syndrome. These
biological tests are easy to complete and are not expensive. They are rarely normal in case of
acute appendicitis (if we exclude the first 24 hours of evolution) and are not very disturbed in
case of viral infection. Furthermore, they can be repeated after 24 or 48 hours; that increase
their sensibility [2]. Nevertheless, these parameters remain with a low rate of specificity that
justify to always correlating them to the physical examination. The Research for more
specific biological markers is promising (granulocyte colony stimulating factor [3],
procalcitonin [4], myeloid-related-protein 8/14 [5], fibrinogen [6]. Or D – Dimers [7].]) Even
if no new marker had imposed himself in the daily practice.
RADIOLOGICAL EXPLORATIONS
Plain Abdominal X-Ray
Although the presence of an apparent coprolith is highly suggestive of acute appendicitis,

it’s no more recommended to perform it in a first intention in the case of child abdominal
Appendicitis 39
pain. It’s not relevant to do it just to make the diagnosis of constipation. In practice, only a
few situations need a plain abdominal X-ray (Intestinal occlusion, suspicious cases to help
distinguish between febrile gastroenteritis and acute peritonitis). To avoid over-prescription,
this X-ray should clearly be prescribed by the surgeon.
Abdominal Ultrasound
Abdominal Ultrasound is the radiological exam of choice in cases of suspicious of

appendicitis. This exam had a sensitivity of 72 % and a specificity of 92% [8]. The sensitivity
of this ultrasound decrease when performed on obese children [9], in cases of an occlusive
syndrome, or ectopic appendix (subhepatic, pelvic, retrocecal), or when performed too early
(less than 24 hours of the start of the symptoms). In this latter situation, the abdominal
ultrasound can even be interpreted as wrongly reassuring. When an appendicular abscess or
phlegmon is suspected, abdominal ultrasound is highly recommended, but it’s not mandatory
to perform it in the presence of obvious cases of uncomplicated appendicitis or diffused
peritonitis. The ultrasound standards for acute appendicitis are:
 An appendix diameter beyond 6 mm.

 Appendicular wall thickness beyond 3 mm,
 Loss of the laminated appearance of the appendix with three different layers
(mucosal, submucosal and muscular).
 Low compressibility of the appendix.
 Infiltration of the peri-appendicular fat and tissues.
 The presence of a coprolith with an acoustic shadow on the appendix [10].
Repeat the ultrasound after 24h or 48 h will raise the sensitivity without any over cost
[11]. Differential diagnosis of adenolymphite mesenteric remains the first cause of acute
abdominal pain in children. However, this finding in abdominal ultrasound will not exclude
the diagnosis of appendicitis especially if they are located only in the right iliac fossa.
Abdominal Computer Tomography (CT)
CT has an estimated sensitivity of 96% and a specificity of 97% in children, whether

obese or not [12]. The CT is more sensitive than ultrasound but not as sensitive and specific
as in adults (close to 100%), it’s because fat tissue is less developed in children. Nevertheless,
it is a radiating examination and, according to the Euratom 97/43 recommendations and the
ALARA principle (as low as reasonably achievable) it cannot be a first line examination in
the management of children abdominal pain. Therefore, abdominal CT scan should be kept in
cases of obese patients or cases of suspected appendicitis with a non-contributory ultrasound.
Over the last decade, we witnessed a rocked increase of CT scan prescription, without
respecting none of the previously mentioned recommendations. There are at least two major
reasons.
 The impact of adult emergency medicine, where it is recommended to perform a CT

scan for the diagnosis of acute appendicitis.
 Most of the children have been managed at the first time in accident and emergency
department by non-pediatric doctors.
Magnetic Resonance Imaging (MRI)
MRI is a no irradiating exploration and has a sensitivity of 96% and a specificity of 97%
[13-14]. However, it is not usual to use it in daily practice in the management of acute
abdominal pain, probably because of the difficulty of immediately accesses and availability
CLINICAL SCORES
Most of the suspected cases of paediatric AA are first checked by a family doctor,
emergency doctor or a paediatrician and not by the surgeon. The use of clinical score was
proposed, aiming to establish prescription criteria for radiological explorations and to select
the cases that will need a surgical advice.
In Paediatric population, two scores are the most common.
Pediatric appendicitis score (PAS) [15] exclusively for children and Alvarado score [16]
more frequently used in adult population but also in children since he was first developed in a
mixed population Pediatric/Adult.
Alvarado Score PAS Score

Spread Abdominal Pain 0/1 Migration of pain to the Right Lower 0/1
Quadrant
Anorexia, loss of appetite 0/1 Anorexia, loss of appetite 0/1
Nausea or vomiting 0/1 Nausea or vomiting 0/1
Tenderness in right lower 0/2 Right lower quadrant tenderness on 0/2
quadrant light palpation
Rebound tenderness 0/1 Right lower quadrant pain with a cough, 0/2
percussion or hopping
Oral Temperature ≥ 37°3 0/1 Low grade fever over 38 C (100.4 F) 0/1
WBC ≥ 10 000/mm3 0/2 WBC> 10 000 mm3 0/1
Left Shift (>75% Neutrophilia) 0/1 Left Shift (>75% Neutrophilia) 0/1
Many studies showed that these scores allow, to limit the prescription of radiological
examinations and to decrease the number of excessive appendicectomies [17]. These scores
are an efficient tool particularly in their extreme values, less or equal to 3 (PAS) or 4
(Alvarado) to exclude the diagnosis of AA and equal or above 6 (PAS) or 7 (Alvarado) to
confirm the diagnosis of AA.
When the score is between 3 and 6 (PAS) and 4 and 7 (Alvarado) [18-19], these tools
become less sensitive and specific for the diagnosis of AA. Radiological explorations are very
useful in these cases.
Appendicitis 41
UNDER FIVE YEARS PATIENTS

The distinctive anatomic features in children aged less than five years are useful to know
[20-21].
The pain is most of the times located at the peri umbilical area or poorly spread out, fever
is higher, diarrhea and vomiting are more frequent. On the other hand, tenderness and rigidity
are less common, even in cases of generalized peritonitis. The rate of perforated appendicitis
is higher in this group. Among the cases of complicated appendicitis, generalized peritonitis
is more frequent, probably because the omentum is very short and cannot limit the spread of
infection by appending the perforated appendix. Concerning biological and radiological
characteristics, Hyper Leucocytis is less specific, and the presence of a calcified coprolith is
more frequent than the rest of pediatric population.
TREATMENT
Non Perforated Appendicitis
Treatment of choice in these cases remains the appendectomy. Antibiotics are prescribed
at the induction, or before if the surgeon indicates surgery. Most of the times there is no need
to continue the antibiotics after this single dose. A 48 h antibiotics cure is prescribed by the
surgeon if there is a pre-perforated appendix, in cases of omentum contamination during
surgery, or in the presence of purulent fluid. In this latter case, an analysis of the specimen
allows the adaptation of the post-operative antibiotics according to the bacteriological
findings. The laparoscopic approach is the most common to perform this appendectomy with
a proved benefit in obese patients [22], pre-female pubertal patients (help for the differential
diagnosis) and in the presence of an ectopic appendix [23]. In the other cases, classic
laparotomy approach (Mac Burney) has a comparable result with laparoscopy and remains
widely practiced. Progressive food introduction is started the day after surgery, and the length
of hospital stays is now between two and three days on average. In some reports, the
appendectomy is performed in one-day surgery wards [24-25].
Generalized Peritonitis
The management of generalized peritonitis remains surgical and based on laparoscopic

approach (for surgery) and a broad spectrum post-operative intravenous infusion of
antibiotics for five days at least and eight days on average (Piperacillin or bi antibiotics
therapy using 3 rd generation of cephalosporins and metronidazole) associated to
Aminoglycoside for two days.
Appendicular Abscess/Appendicular Phlegmon
Since a decade, the management is medical on a first line [26] based on a broad spectrum
intravenous infusion of antibiotics for at least five days (Piperacillin or 3 rd generation of
cephalosporins and metronidazole), followed by oral antibiotics (Amoxicillin with clavulanic
acid) for five days. Then a scheduled laparoscopic appendectomy is performed 8-12 weeks
later [27]. When the acute episode is controlled by medical treatment (in about 80% of cases),
the profit is important. It allows reducing the rate of deep abscesses, wound infections and
postoperative occlusion and among this subgroup of patients significantly.
Even if some authors suggest to leave in place the appendix once the abscess managed,
due to the low rate of recurrence [28-29], this attitude remains controversial because of the
risk of leaving a carcinoid tumor of the appendix [30] In addition to that, the risk to develop a
carcinoid tumor on chronic appendicular mucous lesions after a medical treatment of an
appendicalur abscess is unknown but real [31].
Suspected case of AA Diagnosis Algorithm
1st Step: Physical Examination

 Including examination, inspection, Taking of Temperature, looking for abdominal
tenderness, peritoneal irritation signs, review of genital area, strip Urinalysis, review of the
ENT area and pulmonary auscultation.
 If Clinical Suspicion => 2nd Step
2nd Step: Laboratory test + calculation of (PAS) score
 If (PAS) ≤ 3: back home with instructions +/- clinical control 24after or 48 hours. In case
of continuing symptoms => 1st step
 If (PAS) between 4 and 6 => 3rd step
 If (PAS) ≥ 7 => 4th step
3rd Step: Abdominal Ultrasound
 If Normal Appendix: back home with instructions +/- clinical control after 24 or 48 hours.
In case of continuing symptoms => 1st step
 If Ultrasound is suggestive of AA or If Ultrasound is doubtful (infiltration of the peri-
appendicular fat etc…) => 4th Step
4th Step: Physical examination by the surgeon
 Either: Surgery without abdominal ultrasound (convinced surgeon)
 Or Abdominal ultrasound and admission for clinical monitoring and repeated laboratory
tests +/- ultrasound 24 H later. If the evolution, the abdominal ultrasound are in favour of
the diagnosis of appendicitis (surgeon concerned) => Surgery
 Or back home with instructions and clinical control the day after with repeated laboratory
tests +/- ultrasound (surgeon slightly concerned)
 Or Plain X-Ray/abdominal CT ASP ou TDM (after non-contributory ultrasound) when
unusual presentation or obese patients (perplexed surgeon)
 OR Medical treatment for well tolerated and confirmed appendicular abscess or Phlegmon
(wise surgeon)
Appendicitis 43
Postoperative Intra-Abdominal Abscess
Since the use of prolonged antibiotic therapy (like for the treatment of appendicular
abscess), the surgery became exceptional. However, it is helpful to discuss a radiological
drainage of the abscess, when the access is easy and when the patient remains symptomatic
despite broad-spectrum antibiotics [32].
CONCLUSION
In 2016, the diagnosis of AA is sometimes difficult to establish in children. Clinical
examination remains essential to orientate further investigations. The use of clinical and
laboratory scores limits radiological explorations and reduce the rate of an unnecessary
appendectomy. Ultrasound is the first-line pediatric radiologic examination.
Treatment of AA remains surgical using a laparoscopic or a Mac Burney Approach
depending on the location of the appendix and the surgeon’s experience.
In the cases of an abscess or an appendix mass clinically well tolerated and confirmed by
radiological explorations, surgical treatment may be deferred for 2 to 3 months after effective
medical treatment.
REFERENCES
[1] HAS - Appendicectomie. Eléments décisionnels pour une indication pertinente.
Rapport d’évaluation technologique. Novembre 2012:1-142.
[2] Wu HP, Chen CY, Kuo IT, Wu YK, Fu YC. Diagnostic values of a single serum
biomarker at different time points compared with Alvarado score and imaging
examinations in pediatric appendicitis. J Surg Res. 2012 May 15;174(2):272-7.
[3] Allister L, Bachur R, Glickman J, Horwitz B. Serum markers in acute appendicitis. J
Surg Res. 2011 Jun 1;168(1):70-5.
[4] Yu CW, Juan LI, Wu MH, Shen CJ, Wu JY, Lee CC. Systematic review and meta-
analysis of the diagnostic accuracy of procalcitonin, C-reactive protein and white blood
cell count for suspected acute appendicitis. Br J Surg. 2013 Feb;100(3):322-9.
[5] Huckins DS, Simon HK, Copeland K, Spiro DM, Gogain J, Wandell M. A novel
biomarker panel to rule out acute appendicitis in pediatric patients with abdominal
pain. Am J Emerg Med. 2013 Sep;31(9):1368-75.
[6] Feng S, Wu P, Chen X. Hyperfibrinogenemia in appendicitis: a new predictor of
perforation in children. Pediatr Surg Int. 2014 Nov;30(11):1143-7. Epub 2014 Aug 13.
[7] Cayrol J, Miguez MC, Guerrero G, Tomatis C, Simal I, Marañón R. Diagnostic
accuracy and prognostic utility of D Dimer in acute appendicitis in children. Eur J
Pediatr.2015 Sep 12.
[8] Mittal MK, Dayan PS, Macias CG, Bachur RG, Bennett J, Dudley NC, Bajaj L,
Sinclair K, Stevenson MD, Kharbanda AB; Pediatric Emergency Medicine
Collaborative Research Committee of the American Academy of Pediatrics.
Performance of ultrasound in the diagnosis of appendicitis in children in a multicenter
cohort. Acad Emerg Med. 2013 Jul;20(7):697-702.
[9] Kutasy B, Hunziker M, Laxamanadass G, Puri P. Increased incidence of negative

appendectomy in childhood obesity. Pediatr Surg Int. 2010 Oct;26(10):959-62.
[10] Trout AT, Sanchez R, Ladino-Torres MF. Reevaluating the sonographic criteria for
acute appendicitis in children: a review of the literature and a retrospective analysis of
246 cases. Acad Radiol. 2012 Nov;19(11):1382-94.
[11] Abo A, Shannon M, Taylor G, Bachur R. The influence of body mass index on the
accuracy of ultrasound and computed tomography in diagnosing appendicitis in
children. Pediatr Emerg Care. 2011 Aug;27(8):731-6.
[12] Moore MM, Gustas CN, Choudhary AK, Methratta ST, Hulse MA, Geeting G, Eggli
KD, Boal DK. MRI for clinically suspected pediatric appendicitis: an implemented
program. Pediatr Radiol. 2012 Sep;42(9):1056-63.
[13] Schuh S, Man C, Cheng A, Murphy A, Mohanta A, Moineddin R, Tomlinson G,
Langer JC, Doria AS. Predictors of non-diagnostic ultrasound scanning in children with
suspected appendicitis. J Pediatr. 2011 Jan;158(1):112-8.
[14] Kulaylat AN, Moore MM, Engbrecht BW, Brian JM, Khaku A, Hollenbeak CS,
Rocourt DV, Hulse MA, Olympia RP, Santos MC0, Methratta ST, Dillon PW, Cilley
RE An implemented MRI program to eliminate radiation from the evaluation of
pediatric appendicitis. J Pedi Surg. 2015 Aug;50(8):1359-63.
[15] Samuel M. Pediatric appendicitis score. J Pediatr Surg. 2002 Jun;37(6):877-81.
[16] Alvarado A. A practical score for the early diagnosis of acute appendicitis. Ann Emerg
Med. 1986 May;15(5):557-64.
[17] Kulik DM, Uleryk EM, Maguire JL. Does this child have appendicitis? A systematic
review of clinical prediction rules for children with acute abdominal pain. J Clin
Epidemiol. 2013 Jan;66(1):95-104.
[18] Escribá A, Gamell AM, Fernández Y, Quintillá JM, Cubells CL Prospective validation
of two systems of classification for the diagnosis of acute appendicitis. Pediatr Emerg
Care. 2011 Mar;27(3):165-9.
[19] Schneider C, Kharbanda A, Bachur R. Evaluating appendicitis scoring systems using a
prospective pediatric cohort. Ann Emerg Med. 2007 Jun;49(6):778-84.
[20] Bansal S, Banever GT, Karrer FM, Partrick DA. Appendicitis in children less than 5
years old: influence of age on presentation and outcome. Am J Surg. 2012
Dec;204(6):1031-5.
[21] Marzuillo P, Germani C, Krauss BS, Barbi E. Appendicitis in children less than five
years old: A challenge for the general practitioner. World J Clin Pediatr. 2015 May
8;4(2):19-24.
[22] Kutasy B, Puri P. Appendicitis in obese children. Pediatr Surg Int. 2013 Jun;29(6):537-
44.
[23] Wu HS, Lai HW, Kuo SJ, Lee YT, Chen DR, Chi CW, Huang MH. Competitive edge
of laparoscopic appendectomy versus open appendectomy: a subgroup comparison
analysis. J Laparoendosc Adv Surg Tech A. 2011 Apr;21(3):197-202.
[24] Oyetunji TA, Gonzalez DO, Aguayo P, Nwomeh BC.. Variability in same-day
discharge for pediatric appendicitis. J Surg Res. 2015 Nov;199(1):159-63.
[25] Putnam LR, Levy SM, Johnson E, Williams K, Taylor K, Kao LS, Lally KP, Tsao K.
Impact of a 24-hour discharge pathway on outcomes of pediatric appendectomy.
Surgery. 2014 Aug;156(2):455-61.
Appendicitis 45
[26] Olsen J, Skovdal J, Qvist N, Bisgaard T. Treatment of appendiceal mass--a qualitative

systematic review. Dan Med J. 2014 Aug;61(8):
[27] Simillis C, Symeonides P, Shorthouse AJ, Tekkis PP. A meta-analysis comparing
conservative treatment versus acute appendectomy for complicated appendicitis
(abscess or phlegmon). Surgery. 2010 Jun;147(6):818-29.
[28] Svensson JF, Johansson R, Kaiser S, Wester T. Recurrence of acute appendicitis after
non-operative treatment of appendiceal abscess in children: a single-centre experience.
Pediatr Surg Int. 2014 Apr;30(4):413-6.
[29] Hartwich J, Luks FI, Watson-Smith D, Kurkchubasche AG, Muratore CS, Wills HE,
Tracy TF Jr. Nonoperative treatment of acute appendicitis in children: A feasibility
study. J Pedi Surg. 2015 Oct 23.
[30] KulkarniKP, SergiC. Appendix carcinoids in childhood: long-term experience at single
institution in Western Canada and systematic review. Pediatr Int. 2013 Apr;55 (2):157-
62.
[31] Carpenter SG, Chapital AB, Merritt MV, Johnson DJ. Increased risk of neoplasm in
appendicitis treated with interval appendectomy: single-institution experience and
literature review. Am Surg. 2012;78: 339-43.
[32] Emil S, Elkady S, Shbat L, Youssef F, Baird R, Laberge JM, Puligandla P, Shaw K.
Determinants of postoperative abscess occurrence and percutaneous drainage in
children with perforated appendicitis. Pediatr Surg Int. 2014 Dec;30(12):1265-71.
Chapter 6
TESTICULAR TORSION
Chaima Mrad1, MD, Taieb Chouikh2,, MD

1
2
Special Registrar. Formely Pediatric Surgery assistant Professor Tunis School of
Medecine University El Manar Tunisia, Department of Paediatric Surgery, Hôpital
Universitaire Necker-Enfants malades Hospital, Paris, France,
Hopital Robert Ballanger, Aulnay sous bois, France
3
Formely Pediatric Surgery Professor Tunis School of Medecine
University El Manar. Tunis –Tunisia
ABSTRACT
Acute testicular torsion in children is an emergency and has to be diagnosed
urgently. Late presentation or failure to diagnose and correctly manage this condition
leads to loss of the testis on the affected side. The incidence of testicular torsion is at least
3.8 per 100,000 males younger than 18 years old. There is a bimodal distribution of
testicular torsion, with one peak at age 1 month and another at age 12 years, which may
reflect the clinical distinction between extravaginal torsion in newborns, and intravaginal
torsion in older infants and children [1].
Keywords: acute pain, emergency, testicular torsion, pre Adult boy, surgery
PATHOPHYSIOLOGY
Testicular torsion can be classified as intravaginal or extravaginal.
The intravaginal torsion is more common and occurs when the spermatic cord twists
within the tunica vaginalis. (Figure 1A) This is predisposed by abnormal fixation of the testis

Corresponding author: [email protected].
and epididymis. Normally, the tunica will invest the epididymis and posterior surface of the
testis, fixing it to the scrotum with a vertical lie. Abnormal fixation occurs when the tunica
vaginalis attaches more proximally on the spermatic cord, creating a long mesorchium on
which the testis can twist; the testis will then lie horizontally, in this situation, the pendulous
testis is predisposed to twisting with leg movement or cremasteric contraction.
The extravaginal torsion is a perinatal event that occurs when the spermatic cord twists
proximal to the tunica vaginalis. (Figure 1B) [2].
The twisting of the spermatic cord leads to a compromised testicular blood supply and
subsequent testicular infarction. The consequent ischemic damage affects testicular
morphology and sperm formation. Studies suggest that spermatogenic and Sertoli cells are
destroyed after a 4-h period of ischemia [3].
Figure 1. Types of testicular torsion A: intravaginal torsion B: extravaginal torsion.
Typically, the clinical presentation of testicular torsion involves a sudden onset of severe,
unilateral pain in the testis, lower thigh, or lower abdomen. The shorter pain duration in
patients with testicular torsion is probably resulting from the ischemic nature of the pain [4].
Episodes of intermittent testicular pain may precede the acute presentation, suggesting
prior incomplete torsion and spontaneous detorsion [2].
Nausea and vomiting are present in 26% to 69%, they are caused by reflex stimulation of
the celiac ganglion. The presence of nausea and vomiting is a high indication of the presence
of testicular torsion with a positive prediction value of 74% to 96%.
The spiral cremasteric muscle fibers are wrapped around the spermatic cord and will
move the testes upward and out of the scrotum. Thus, if twists occur within the spermatic
cord, the cremasteric reflex will be absent on clinical examination.
51%-100% of patients with testicular torsion lack a cremasteric reflex [7-8-9-10].
The testicular position can suggest torsion, because the torsed cord shortens, pulling the
testis higher in the scrotum. The testis is retracted up toward the inguinal region with a
Testicular Torsion 49
transverse orientation and an anteriorly located epididymis. (The positive predictive value is
36%-80% [5-10].
Table 1. Etiology of acute scrotum
Etiology of the acute scrotum:

Torsion of the testis
Torsion of the appendix testis/epididymis
Epididymitis/orchitis
Hernia/hydrocele
Trauma
Tumor
Idiopathic scrotal edema
Cellulitis
Vasculitis (Henoch-Schonlein purpura)
The torsed testis is usually enlarged and tender.

Depending on the duration of torsion, the involved hemiscrotum will show varying
degrees of swelling and erythema (Figure 2), which can make the examination more difficult.
Often the diagnosis of torsion is clinically apparent and is managed by immediate scrotal
exploration.
If the diagnosis is uncertain, adjunctive diagnosis studies may help to determine the
etiology of the acute scrotum.
Figure 2. Swelling and erythema of the scrotum in testicular torsion.

Diagnostic Imaging
The imaging methods MRI and nuclear scintigraphy have very high accuracy rates, with
a sensitivity and specificity of 93 and 100% and 100 and 59%, respectively [11-12].
However, these methods are expensive, no universally available, time-consuming and may
thus significantly delay diagnosis and treatment.
Moreover, scintigraphy involves exposure to ionizing radiation. Doppler ultrasonography
(US) is increasingly used in the management of patients with suspicion of testicular torsion.
Ultrasonography has a reported sensitivity of 69–90% and specificity 98–100%. [13-14].
Ultrasonography can detect testicular hyper or hypoechogenity (heterogenicity) (Figure 3A)
in testicular torsion. The involved testicle is enlarged in comparison with the other side.
Doppler US show reduced central perfusion of the affected testis. (Figure 3B)
(A)
(B)
Figure 3. Ultrasonographic aspect of testicular torsion: A: Normal left testicle and right testicular
torsion (hypoechogenicity of the right testicle) B: Right testicular perfusion and the left testicle is not
perfused.
TREATMENT
Manual Detorsion
If testicular torsion is suspected, but a delay to surgery is unavoidable, manual detorsion

can be attempted under conscious sedation. Detorsion should be performed in a medial to
lateral, “open book” rotation, (the correct direction in 2/3 of patients) If successful, the testis
will typically drop lower in the scrotum with a sudden relief of the pain.
Prompt surgical exploration and fixation remain mandatory because the detorsion may
not be complete and recurrent torsion can occur [2].
Surgical Exploration
Once testicular pain starts, there is a 6 hours window to detorse the testicle and reinstate
blood flow, otherwise, atrophy or loss of the testicle is imminent.
Exploration is performed using an incision in the scrotum. This incision is carried down
through the skin, dartos fascia and tunica vaginalis of the affected testicle.
The testicle is brought out of the scrotum. Usually there is a 360° in the spermatic cord.
The testis is then untwisted, which usually involves lateral turning of the testis. It is placed in
warm, moist sponges. If the testis appears clearly nonviable, orchidectomy must be
considered. Some authors suggest the orchidectomy to avoid potential damage to the
contralateral testis mediated by antisperm antibodies (demonstrated by animal studies) [15].
While others suggest that this antibodies formation is not physiologically significant in
humans. If the torsed testis becomes reporfused or bleeding is noted from a cut surface, it
should be fixed. A three-point fixation must be performed to prevent the recurrence of
torsion. The fixation is performed using non-absorbable suture. The sutures are placed
through the tunica albuginea and dartos muscle medially and laterally. The contralateral side
must be fixed in the same fashion.
Figure 4. Ischemic Testis.

CONCLUSION
Acute testicular torsion in children is an emergency where a surgical exploration is
recommended whenever testicular torsion is suspected.
REFERENCES
[1] Zhao, L. C., Lautz, T. B., Meeks, J. J. and Maizels, M. (2011). Pediatric testicular
torsion epidemiology using a national database: incidence, risk of orchiectomy and
possible measures toward improving the quality of care. The Journal of urology,
186(5), 2009-2013.
[2] Holcomb III, George W., Jerry D. Murphy, and Daniel J. Ostlie. Ashcraft’s Pediatric
[3] Weiss, A. P. and Van Heukelom, J. (2012). Torsion of an undescended testis located in
the inguinal canal. The Journal of emergency medicine, 42(5), 538-539.
[4] Beni-Israel, T., Goldman, M., Chaim, S. B. and Kozer, E. (2010). Clinical predictors for
testicular torsion as seen in the pediatric ED. The American journal of emergency
medicine, 28(7), 786-789.
[5] Ciftci, A. O., Senocak, M. E., Tanyel, F. C. and Büyükpamukçu, N. (2004). Clinical
predictors for differential diagnosis of acute scrotum. European journal of pediatric
surgery: official journal of Austrian Association of Pediatric Surgery... [et al.] =
Zeitschrift fur Kinderchirurgie, 14(5), 333-338.
[6] Jefferson, R. H., Perez, L. M. and Joseph, D. B. (1997). Critical analysis of the clinical
presentation of acute scrotum: a 9-year experience at a single institution. The Journal of
urology, 158(3), 1198-1200.
[7] Yang, C., Song, B., Tan, J., Liu, X. and Wei, G. H. (2011). Testicular torsion in
children: a 20-year retrospective study in a single institution. The Scientific World
Journal, 11, 362-368.
[8] Rabinowitz, R. (1984). The importance of the cremasteric reflex in acute scrotal
swelling in children. The Journal of urology, 132(1), 89-90.
[9] Kadish, H. A. and Bolte, R. G. (1998). A retrospective review of pediatric patients with
epididymitis, testicular torsion, and torsion of testicular appendages. Pediatrics, 102(1),
73-76.
[10] Van Glabeke, E., Khairouni, A., Larroquet, M., Audry, G. and Gruner, M. (1999).
Acute scrotal pain in children: results of 543 surgical explorations. Pediatric surgery
international, 15(5-6), 353-357.
[11] Terai, A., Yoshimura, K., Ichioka, K., Ueda, N., Utsunomiya, N., Kohei, N., ... and
Watanabe, Y. (2006). Dynamic contrast-enhanced subtraction magnetic resonance
imaging in diagnostics of testicular torsion. Urology, 67(6), 1278-1282.
[12] Hod, N., Maizlin, Z., Strauss, S. and Horne, T. (2004). The relative merits of Doppler
sonography in the evaluation of patients with clinically and scintigraphically suspected
testicular torsion. IMAJ-RAMAT GAN-, 6(1), 13-15.
[13] Kalfa, N., Veyrac, C., Baud, C., Couture, A., Averous, M. and Galifer, R. B. (2004).
Ultrasonography of the spermatic cord in children with testicular torsion: impact on the
surgical strategy. The Journal of urology, 172(4), 1692-1695.
[14] Lam, W. W. C., Yap, T. L., Jacobsen, A. S. and Teo, H. J. E. L. (2005). Colour Doppler
ultrasonography replacing surgical exploration for acute scrotum: myth or reality?
Pediatric radiology, 35(6), 597-600.
[15] Koşar, A., Küpeli, B., Alçıgır, G., Ataoglu, H., Sarıca, K. and Küpeli, S. (1999).
Immunologic aspect of testicular torsion: detection of antisperm antibodies in
contralateral testicle. European urology, 36(6), 640-644.
Chapter 7
OVARIAN TORSION
Chaima Mrad1, MD and Taieb Chouikh2,, MD

1
Pediatric Surgery Resident, Sousse School of Medecine Ibn Al Jazzar
University Sousse, Tunisia
2
Tunis School of Medecine University El Manar, Tunisia
ABSTRACT
Ovarian torsion is an emergency that needs early diagnosis and management to avoid
adnexal injury.
Because the symptoms of ovarian torsion are nonspecific and can be related to other
gynecologic, urologic, or gastrointestinal causes, the diagnosis remains a challenge for
primary care physicians.
Keywords: ovarian torsion, emergency, acute abdominal pain
EPIDEMIOLOGY
The actual incidence has not been well defined, but studies have estimated 5 cases per
100,000 females aged between 1 and 20 years. Pediatric cases account for approximately 15%
of all cases of ovarian torsion [1, 2]. It can occur at any pediatric age (infants to 18 years). Up
to 52% of torsion cases in children occur between 9 years and 14 years of age, with a median
age of 11 years. A bimodal age distribution has been described, with one peak in children
younger than one year and the second peak in children aged 12 years [3]. Neonatal ovarian
torsion (in girls younger than one month) is rare, approximately 16% of pediatric cases occur
in girls younger than one year [2].
 Corresponding author: [email protected], Special Registrar. Formely Pediatric Surgery assistant Professor
Tunis School of Medecine University El Manar Tunisia, Department of Paediatric Surgery, Hôpital
Universitaire Necker-Enfants malades Hospital, 149 rue de Sevres, 75015 Paris, France, Hopital Robert
Ballanger Bd Robert Ballanger 936020, Aulnay sous bois France.
PATHOPHYSIOLOGY
The usual mobility of the fallopian tube can lead to rotation of the ovary along with its
vasculature; this leads to the obstruction of venous outflow, infarction, and eventual necrosis,
infection, peritonitis or loss of the adnexa. This is especially dangerous for young children, as
the entity can go unrecognized because of the rarity and the nonspecificity of its presentation.
This can delay surgical intervention and lead to a greater risk of complications. Most cases of
torsion occur in ovaries containing masses, such as functional cysts and neoplasms.
True isolated ovarian torsion (without any mass), is defined by the twisting of the ovary
alone, which occurs as the ovary twists on the mesovarium. This form of torsion is rare
because of the total attachment of mesovarium to the rest of the broad ligament. Torsion is
reportedly more common on the right side than the left [3 to 2]. This is possibly due to either
the sigmoid colon on the left limiting movement or a hypermobile cecum on the right that is
more permissive to movement. The pathophysiology may be different in neonates and infants,
where two mechanisms are speculated for ovarian torsion.
The prenatal descent of the ovaries from the abdomen might allow an initial increase in
gonadal mobility [4]. Alternatively, maternal-hormone-induced stimulation with resultant
ovarian enlargement and cyst development could lead to torsion [5]. The incidence of fetal
ovarian cysts detected in utero has increased with the use of ultrasound. They are usually seen
at the end of the second trimester during a routine prenatal ultrasound. They tend to regress
after birth once the stimulation has decreased. Ovarian torsion is the most common
complication of an untreated ovarian cyst. Diagnosis of ovarian torsion is critical for timely
management and is frequently detectable with the use of ultrasound. The twisted ovary may
develop adhesions with surrounding organs and lead to serious complication.
Management of foetuses with ovarian cysts is highly debated, and recommendations
ranging from the expectant follow-up, a perinatal aspiration to selective or systematic surgery.
Clinical History
The symptoms can mimic many abdominal or pelvic medical or surgical diseases.
The main symptom of acute ovarian torsion is the abdominal or pelvic pain. It is
variously described as sudden onset, waxing and waning, or gradual and severe, sharp, dull.
Pain is often described as radiating, sometimes to the back or thighs. It may be relapsing and
remitting for days or even months [6]. Nausea and/or vomiting are present with the pain in
about 70% of patients.
Fever occurs in about 20%, it appears late after the onset of the pain and is thought to be
due to the tissue necrosis [7]. In neonates, the most common clinical features associated with
ovarian torsion are the presence of an abdominal mass, feeding intolerance, or ovarian
abnormalities on prenatal imaging [3].
Ovarian Torsion 57
Abdominal tenderness is frequently reported in ovarian torsion (about 90% in various

series) [7], the tenderness may be localized or be generalized. Peritoneal signs are
exceedingly rare. The presence of peritoneal signs may indicate significant necrosis and a
poor prognosis for ovarian salvage. In girls with large ovarian masses, it may be possible to
palpate the mass through the abdominal wall.
The rest of the physical examination is unremarkable.
The signs of peripheral precocious puberty can be found in the physical examination. If
precocious puberty is associated with “cafe-au-lait” spots, McCune-Albright syndrome should
be suspected.
Laboratory Tests
Laboratory tests will not diagnose ovarian torsion but will augment the clinical evaluation
of a young female presenting with abdominal pain. Leukocytosis is reported in 21% to 82%
of children with ovarian torsion [8, 9]. There is no documented correlation between the level
of leukocytosis and the rate of ovarian viability [10].
If an ovarian mass is identified on palpation or present on imaging, tumor markers such
as α-fetoprotein (AFP), quantitative β-human chorionic gonadotropin (βHCG), inhibin B or
cancer antigen-125 (CA125) should be undertaken.
Imaging Studies
Abdomino-Pelvic Ultrasound
Ultrasound is the imaging modality of choice in girls with pelvic pain and clinically
suspected ovarian torsion. The unilateral enlarged ovary (Figure 1) is the most common
finding in the case of a twisted ovary [2, 11, 12]. The length measurement of a normal ovary
is not well-established for children. However, a study by Oltmann et al. [3] found that in the
pediatric population older than one year of age, the presence of a pelvic mass larger than 5 cm
had the highest diagnostic sensitivity for ovarian torsion.
A median volume ratio of the abnormal ovary compared to the standard adnexa of 20 or
more is associated with an underlying ovarian mass [2]. In addition to ovarian enlargement,
peripherally displaced follicles secondary to a stromal edema can be visualized in more than
74% of ovarian torsion cases [13] (Figure 1).
Venous compromise on Doppler is seen in up to 93% of cases [11], but the addition of
color Doppler ultrasound has not been found to improve diagnostic accuracy. It should be
noted that the presence of blood flow on Doppler ultrasound does not rule out ovarian torsion.
The “swirl” or “whirlpool” sign, when present, corresponds to the axis of actual vascular
pedicle torsion [14] (Figure 2).
Figure 1. Abdominal Ultra sound: enlarged left ovary [1] with peripheral follicles [2].
Figure 2. Ultrasound with the “whirlpool” sign in ovarian torsion (Arrow).
The midline position of the ovary, the displacement of the uterus off the midline and free
pelvic fluid are potentially helpful ultrasound signs sometimes seen in ovarian torsion cases.
Ovarian Torsion 59
Contrast-Enhanced Ultrasound
Contrast-enhanced ultrasound with the US contrast agent SonoVue is a well-established

method for visualization of the macro vascularization and micro-vascularization and
perfusion of different tissues and organs in adults, thus, the Contrast-enhanced ultrasound
appears to be a promising diagnostic tool in the evaluation of suspected ovarian torsion [15].
MRI should not be used in the setting of suspected acute ovarian torsion, predominantly
because of availability, cost and timing issues. However, when the diagnosis is unclear, as, in
cases of subacute or intermittent ovarian torsion, MRI can be useful to delineate further the
anatomy. An enlarged ovary with peripherical displaced follicles secondary to edema are
features commonly reported in ovarian torsion [16].
Computed Tomography Scan: (CT)
CT is not recommended in the evaluation of suspected ovarian torsion in children, but it

can provide a fast, efficient method to evaluate the adnexa in the case of acute pelvic pain. CT
can also identify other causes of pelvic symptomatology which can clinically mimic ovarian
torsion. It can also be useful when a pelvic mass such as teratoma is suspected as the lead
point for the ovarian torsion [16].
MRI and CT should be reserved for those cases where ovarian pathology is highly
suspected, but ultrasound is equivocal.
MANAGEMENT [17]
The mainstay of treatment is diagnostic laparoscopy with detorsion of the ovary. (Figure
3, 4). In neonates, the management of prenatal ovarian cysts will depend on the presence or
not of indicators of complex form on the ultrasound. The standards of the management are
summarized in Figure 5.
Figure 3. Peri Operativ aspect of twisted ovaria (before detorsion).

Figure 4. Peri Operativ aspect of twisted ovaria (immediately after laparoscopic detorsion).
Figure 5. Management approach for neonatal ovarian cysts [18].

Ovarian Torsion 61
In the past, apart from neonatal cases, the management of ovarian torsion consisted of
resection of the entire ovary without detorsion. It was believed that a hemorrhagic ovary
represented nonviable tissue, and that simple detorsion would lead to thromboembolism. A
further fear was leaving a malignancy in situ [19]. But given the low frequency of
malignancy, [8, 19, 20] a more conservative approach consisting of detorsion with or without
cystectomy has been used over the last 20 years. (21) The normal ovarian function has been
reported after up to 72 hours of torsion [22]. In several studies, follow-up evaluation has
demonstrated sonographic evidence of apparently healthy and well-perfused ovaries
following detorsion despite their macroscopic appearances [20, 23, 24]. An ultrasound
performed six weeks postoperatively can rule out any suspicion of neoplasm so that it may be
resected without the technical difficulties associated with a hemorrhagic ovary [19].
Regarding the contralateral ovary, ovarian fixation remains controversial but is often
considered in cases of recurrent torsion.
On the following chart (Figure 6), we report the guidelines for the management of
suspected cases of ovarian torsion.
Figure 6. Decision-making protocol for suspected ovarian torsion [25].

CONCLUSION
Ovarian torsion should be considered in any female child with acute onset lower
abdominal pain accompanied by vomiting. Ultrasound is the most useful initial diagnostic
modality, but the absence of flow on Doppler imaging is not always present. Conservative
management with detorsion is recommended.
REFERENCES
[1] Guthrie, B. D., Adler, M. D. and Powell, E. C. (2010). Incidence and trends of pediatric
ovarian torsion hospitalizations in the United States, 2000–2006. Pediatrics, 125(3),
532-538.
[2] Servaes, S., Zurakowski, D., Laufer, M. R., Feins, N. and Chow, J. S. (2007).
Sonographic findings of ovarian torsion in children. Pediatric radiology, 37(5), 446-
451.
[3] Oltmann, S. C., Fischer, A., Barber, R., Huang, R., Hicks, B. and Garcia, N. (2009).
Cannot exclude torsion—a 15-year review. Journal of pediatric surgery, 44(6), 1212-
1217.
[4] Chinchure, D. and Ong, C. L. (2011). Neonatal ovarian cysts: role of sonography in
diagnosing torsion. Ultrasound in Medicine and Biology, 37(8), S77.
[5] Crombleholme, T. M., Craigo, S. D., Garmel, S. and D'Alton, M. E. (1997). Fetal
ovarian cyst decompression to prevent torsion. Journal of pediatric surgery, 32(10),
1447-1449.
[6] McGee, D. M., Connolly, S. A. and Young, R. H. (2003). Case 24-2003: a 10-year-old
girl with recurrent bouts of abdominal pain. New England Journal of Medicine, 349(5),
486-494.
[7] Anders, J. (2009). Ovarian torsion in the pediatric emergency department: making the
diagnosis and the importance of advocacy. Clinical Pediatric Emergency Medicine,
10(1), 31-37.
[8] Kokoska, E. R., Keller, M. S. and Weber, T. R. (2000). Acute ovarian torsion in
children. The American journal of surgery, 180(6), 462-465.
[9] Chang, Y. J., Yan, D. C., Kong, M. S., Wu, C. T., Chao, H. C., Luo, C. C. and Hsia, S.
H. (2008). Adnexal torsion in children. Pediatric emergency care, 24(8), 534-537.
[10] Emonts, M. and Doornewaard, H. (2004). Adnexal torsion in very young girls:
diagnostic pitfalls. European Journal of Obstetrics and Gynecology and Reproductive
Biology, 116(2), 207-210.
[11] Albayram, F. and Hamper, U. M. (2001). Ovarian and adnexal torsion: spectrum of
sonographic findings with pathologic correlation. Journal of ultrasound in medicine,
20(10), 1083-1089.
[12] Duigenan, S., Oliva, E. and Lee, S. I. (2012). Ovarian torsion: diagnostic features on
CT and MRI with pathologic correlation. American Journal of Roentgenology, 198(2),
W122-W131.
[13] Chang HC., Bhatt S., Dogra VS. (2008) Pearls and pitfalls in diagnosis of ovarian
torsion. Radiographics 28:1355–1368.
Ovarian Torsion 63
[14] Lee, E. J., Kwon, H. C., Joo, H. J., Suh, J. H. and Fleischer, A. C. (1998). Diagnosis of
ovarian torsion with color Doppler sonography: depiction of twisted vascular pedicle.
Journal of ultrasound in medicine, 17(2), 83-89.
[15] Svensson, J. F., Larsson, A., Uusijärvi, J., von Sivers, K. and Kaiser, S. (2008).
Oophoropexy, hyperbaric oxygen therapy, and contrast-enhanced ultrasound after
asynchronous bilateral ovarian torsion. Journal of pediatric surgery, 43(7), 1380-1384.
[16] Ngo, A. V., Otjen, J. P., Parisi, M. T., Ferguson, M. R., Otto, R. K. and Stanescu, A. L.
(2015). Pediatric ovarian torsion: a pictorial review. Pediatric radiology, 45(12), 1845-
1855.
[17] Poonai, N., Lim, R. and Lynch, T. (2013). Pediatric ovarian torsion: case series and
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[18] Cho, M. J., Kim, D. Y. and Kim, S. C. (2015). Ovarian Cyst Aspiration in the Neonate:
Minimally Invasive Surgery. Journal of pediatric and adolescent gynecology, 28(5),
348-353.
[19] Beaunoyer, M., Chapdelaine, J., Bouchard, S. and Ouimet, A. (2004). Asynchronous
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[20] Aziz, D., Davis, V., Allen, L. and Langer, J. C. (2004). Ovarian torsion in children: is
oophorectomy.
PART TWO
NEONATAL SURGERY
Chapter 8
ESOPHAGEAL ATRESIA
Benoit Parmentier, MD
Special Registrar, Pediatric Surgery Department,
Hôpital Universitaire Armand Trousseau, Paris France
ABSTRACT
Esophageal Atresia is a life threatening congenital anomaly that requires prompt
management. Prenatal diagnosis of EA remains challenging and inconstant. The
Prognosis of EA is linked to several factors and has dramatically improved over the last
decades. The management is based on surgical repair but in most of the cases; the surgery
is a step of a global and adequate management.
Keywords: Esophageal Atresia, Tracheo-Esophageal Fistula, VACTERL association,

surgery, long term prognosis
INTRODUCTION
Esophageal Atresia (EA) is a congenital anomaly with a live-birth prevalence in
developed countries of 1.7 to 1.8 per 10000 births, and a sex ratio (Male/Female) of 1.2 to 1.3
[1, 2]. Malformation is characterized by anatomical discontinuity of the esophageal lumen
often associated with Tracheo-Esophageal Fistula (TEF). Anatomical classifications are based
on the TEF characteristics.
The main classifications are Ladd [3] (Figure 1) and Gross (4) (Figure 2) classifications,
resumed in table 1.
68 Benoit Parmentier
Table 1. Anatomic type and frequency of EA*[1, 2]
Description Upper and TEF between TEF between the lower portion Upper and
lower portion the upper of the esophagus ant the trachea lower portion
of the portion of the (distal TEF) of the
esophagus both esophagus and esophagus both
ends in a blind the trachea communicates
pouch (proximal TEF) with trachea
(proximal and
distal TEF)
Ladd Type I Type II Type III Type IV Type V
classification TEF is located TEF is located
[3] above carina at the carina o
lower on the
right main
bronchus
Gross A B C D
classification
[4]
Frequency (%) 10-11* 1-4* 86-87* 0-1*
Gross classification comprises a type E corresponding to H fistula (TEF without

esophageal lumen discontinuity) [4].
EMBRYOLOGY AND GENETICS

Normal embryogenesis of tracheo-esophageal tree is not completely understood. Trachea
emerges as a bud on the ventral part of foregut just caudal to the pharynx then elongates and
divides [6]. The process by which the trachea is defined and becomes separate from the
original foregut tube is still debated [7, 8]. EA embryogenesis is also debated mainly due to a
lack of embryos demonstrating these anomalies at critical stages during development (9). It
has been discovered that rats or mice exposure to adriamycin during fetal life led to a
spectrum of tracheo-esophageal and associated malformations anatomically identical to those
observed in humans [10, 11]. These rodent animal models have been used to improve our
understanding of EA embryogenesis [12]. Studies have shown local notochord anomalies
leading to disturbances of several genes expression next to them [13]. Nevertheless, severity
of trachea-esophageal anomalies and prevalence of associated anomalies in adriamycin model
is higher than observed in human population [12, 14].
The great majority of cases of EA occurs as sporadic events and, together with the low
recurrence risk (approximately 1%) and the low twin concordance rate (2.5%), this has
previously been taken as evidence for a primarily nongenetic etiology [7]. EA can be part of
several malformation syndromes or associations such as VACTERL or CHARGE and can
occur in different chromosomal anomalies such as trisomy 18 or 21 [15, 16].
Esophageal Atresia 69
Figure 1. Gross classification.
Figure 2. Ladd’s classification [5].
ASSOCIATED MALFORMATION
Rate of associated malformations is close to 50% in two recent series remarkably similar
[1, 2]. VACTERL association is present in 13 to 23% of cases. The main rates of associated
malformation are resumed in table 2.
Table 2. Main rates of associated malformations of the VACTERL association
VACTERL malformation Rate (%)

Cardiac 24-34*
Renal 9-15*
Limbs 7-11*
Rib or Vertebral 7-9*
Anorectal 9-11*
* [1, 2, 17]
Other malformations, not included in VACTERL association, are met in 21% of cases
(duodenal atresia, labiopalatine cleft, central nervous system anomalies, genital anomalies,
diaphragmatic defect and CHARGE syndrome). Chromosomal anomalies are found in 0 to
8% of cases [1, 2, 17]. There is no difference in term of associated malformations between
EA with or without TEF [1, 2].
PRENATAL DIAGNOSIS
Prenatal diagnosis of EA is difficult and inconstant. The findings that suggest the
possibility of esophageal atresia are:
 polyhydramnios
 small or absent stomach bubble
 pouch sign [18, 19]
These findings are more frequent in case of EA without distal TEF (type I and II of
Ladd’s classification) with a prenatal detection rate of 75%. On the other hand, when a distal
TEF is present (type III, IV and V of Ladd’s classification), post-natal diagnosis occurs in
75% of cases [20].
Fetal MRI may be a useful additional tool to assess malformative anatomy in case of
echographic anomalies [21–23].
Polyhydramnios is present in 52% to 73% of cases [20, 24] and has a very low specificity
[25, 26]. Small or absent stomach bubble and pouch sign are more specific but have a low
sensitivity [18]. Positive predictive value of ultra sound examinations is estimated between 44
and 56% combining polyhydramnios and small or absent bubble stomach [27, 28]. In difficult
or doubtful cases, biochemical markers of amniotic fluid may be assayed on the occasion of
amniocentesis for karyotype study. An EA index based on 5 biochemical markers has been
described with 98% sensitivity and 100% specificity using the appropriate cutoff [29].
There is no specific prenatal treatment of EA besides amnioreduction in cases of
symptomatic polyhydramnios. The family should be referred to a tertiary center. Fetal
echocardiography and amniocentesis for assessment of karyotype should be organized and a
prenatal counseling should be proposed [18].
POST NATAL DIAGNOSIS

Diagnosis of EA is most often made within the few first hours of life. A newborn must be
suspect of EA in cases hypersialorrhea with unability to swallow saliva, choking with
attempted feeding or a respiratory distress [19, 30]. If any of these signs is present or if there
was a prenatal suspicion of EA, oral feeding must be prohibited, child should be placed in a
upright sitting position to avoid inhalation and esophageal permeability should be tested using
a 10F tube placed beyond 9–13cm from the nares. Intra gastric position of the tube will be
ensured by injecting of few milliliters of air with a stethoscope placed on the epigastric wall.
If there is any doubt, a plain X ray will be performed promptly with a low pressure applied to
the tube [30].
In case of EA, tube is seen in the upper pouch. A few milliliters of air or diluted barium
may be injected to assess the level of the upper pouch. Intra-abdominal gas reflects the
presence of distal TEF (types III, IV or V of Ladd’s classification) (Figures 3 and 4).
Figure 3. Abdominal gas (type III EA).

Figure 4. Gasless abdomen (type I EA).
PREOPERATIVE MANAGEMENT
If EA is confirmed, the newborn must be kept in a sitting position and the upper pouch
should be suctioned via a 10F Replogue® tube to reduce the risk of aspiration. The child must
be promptly referred in a tertiary center with pediatric surgery and neonatal intensive care
unit. Intravenous access must be established and a fluid therapy to maintain electrolytes and
glucose balance should be started. Newborn with EA is subjected to cooling and preventive
measures must be implemented. Vitamin K should be administrated prior to surgery. General
clinical examination of the newborn must be performed with a special focus on associated
malformations and respiratory status. Positive-pressure ventilation must be avoided if distal
TEF is present to limit abdominal distension disturbing respiratory mechanics. A wide-broad
antibiotherapy is administrated.
Echocardiography is performed pre operatively if possible, with a special focus on the
search for a right aortic arch which would make consider a left thoracotomy. A spinal X-ray,
a renal ultrasonography and a karyotype analysis are performed before discharge from
hospital to assess the existence of others associated malformations [19].
SURGICAL MANAGEMENT
The aims of surgical treatment are:
 to diagnose and to divide TEF

 to assess the existence of associated laryngo-tracheal associated anomalies (laryngeal
paralysis, laryngeal cleft and tracheomalacia) [31]
 to assess the length of the gap
 to get the conditions for rapid enteral feeding or by esophageal anastomosis in a time
whenever possible, either by creating a gastrostomy.
Preoperative tracheoscopy allows to assess the existence of a proximal TEF and to

catheterize any TEF in order to facilitate their identification, tracheal and laryngeal anatomy
[32–34] and may be useful for gap measuring by positioning endoscop extremity in regard to
distal TEF and performing a thoracic X-ray with Replogue® tube in the upper pouch [35]. In
case of EA without distal TEF, preoperative tracheoscopy avoids to fail in recognizing a type
II EA of Ladd’s classification and allows a one-step surgical reparation [36]. Despite these
arguments, tracheoscopy was performed in only 20% of children managed for EA in France
between 2008 and 2009 [2] and several surveys suggest this is not a routine procedure in the
majority of centers [37, 38].
EA with TEF
Presence of a distal TEF requires early intervention to reduce the risk of inhalation
through the fistula and gastric distension. The procedure can be conducted either by
thoracotomy or thoracoscopy. Gold standard procedure is performed through right sided
posterior thoracotomy [39] in the 4th intercostal space on a child placed in left lateral position
(Figure 5). Cooperation with the anesthesiologist is essential to obtain optimal operating
conditions. Endotracheal tube must be placed carefully to limit gas leak through the fistula to
the stomach and tidal volume should be as limited as possible to facilitate exposition.
Figure 5. Preoperative installation.
Majority of surgeons perform an extra-pleural approach to limit risks of empyema in case

of anastomotic leak and to facilitate mediastinal exposition. Trans-pleural approach is
preferred by some surgeons because of operating time gain. Azygos vein represent the first
anatomical landmark and is often divided to locate lower pouch but may be conserved
sometimes. Lower pouch is dissected toward the trachea up to TEF which is divided and
closed step by step with interrupted stitches. The airtightness of TEF closure should be
checked by filling the thoracic cavity with saline and carefully watching for bubbles with
positive-pressure ventilation. Upper pouch is located by mobilizing softly Replogue® tube
and dissected enough to provide limited anastomotic tension. End to end anastomosis is
performed with interrupted stitches of 4/0 to 6/0 absorbable sutures including full thickness of
esophageal wall and specially mucosa [37]. Knots of the back wall are tied on the inside of
the lumen. A thin feeding tube is placed in the stomach through anastomosis before anterior
layer is completed over the tube with knots being tied on the outside. Chest tube is left in the
mediastinum next to anastomosis by the majority of surgeons [40] even if some others discuss
its interest in extra pleural approach with tension-free and good quality anastomosis [41].
Since first publication in 1999 [42], thoracoscopy gained popularity for EA repair. Many
publications demonstrated thoracoscopic EA repair to be an effective and safe procedure [43–
47] and recent studies even concluded of superiority of thoracoscopy over thoracotomy [48,
49]. Thoracoscopy offers a magnified vision of anatomy with less thoracic wall damages and
is believed to decrease post-operative pain, orthopedic consequences (scapula alta, rib fusion,
scoliosis) and even duration of mechanical ventilation. Cosmetic appearance is the most
evident benefice but, as pain consideration, remains difficult to assess scientifically and there
is a lack of evidence [39]. thoracoscopic repair of EA is recognized to be a very
challenging procedure because of the lack of space (workspace) within thoracic cavity of
neonates. Thus, high rates of anastomotic complications such as fistula, recurrence of TEF or
strictures have been reported in the beginning of the learning curve [50, 51]. Moreover,
thoracoscopy does not allow extra-pleural approach. Then, there have been some concern
about per operative hypercapnia related to CO2 insufflation but there is no proof of clinical
consequence [52]. In a recent worldwide survey, 30% of responders performed thoracoscopic
repair as a gold standard. This reports certainly does not reflect reality since surgeons
surveyed did not correspond to a representative panel of the entire surgical community but it
suggests a trend toward development of thoracoscopic EA repair [37]. Nevertheless, 10 to 20
procedures are required to complete the learning curve making the development of this
technique difficult for many surgeons because of the rarity of the disease and the need for
significant expertise in mini-invasive neonatal surgery [39].
Very Low Birth Weight and EA
Very low birth weight (VLBW) neonates (< 1500grams) with EA TEF represent a high-
risk group. Surgical management of these patients is not consensual but recent studies suggest
that early intervention to close the TEF must be performed [53, 54]. TEF can be closed
without section and anastomosis is ideally scheduled when the baby reaches 2000 grams, or
anastomosis can be attempted but if technical or anesthetics difficulties are encountered,
lower pouch is anchored to the spine with moderate traction, a gastrostomy is performed and
anastomosis is delayed [55]. When the expected time before corrective intervention is long,
an esophagostomy can be discussed to limit orality disorders related to prolonged fasting with
a Replogue® tube but leads to a loss of length and high rate of vocal cord paresis [56, 57].
EA without TEF
In case of gasless plain X-ray after birth, type I or II of Ladd's classification EA is

suspected. This population is at high risk for Long Gap EA (LGEA). Initial surgery must
allow to assess existence of a proximal TEF (type II of Ladd’s classification) and to divide it
when necessary, to measure the length of the gap and to create a gastrostomy if the gap does
not allow for a primary repair. A Replogue® tube is left in suction in the upper pouch until
corrective surgery is done. There is no consensus about the best surgical management.
Conservation of the native esophagus with delayed anastomosis is the favorite strategy for
many surgeons [58–61]. In France, over the period 2008-2010, over 49 neonates managed for
a LGEA, 33 (70%) have been treated initially in a conservative way who all succeeded but
two (personal data). In the purpose of limiting the delay before esophageal repair, Foker has
proposed a mechanical traction on the pouches to induce esophageal growth [62]. He reported
surprisingly good outcomes with all gap being bridged after a median duration of traction of
14 days [61]. Some authors emphasized the risk for sutures tearing off the esophagus wall and
requiring additional procedures as a major inconvenience [45, 64]. Thus, 25% of surgeons
using this technique admit to not be completely satisfied [65]. In an other hand, a meta-
analysis comparing delayed anastomosis with or without traction concluded in favor of the
Foker’s procedure [66].
Kimura described an extrathoracic esophageal lengthening technique consisting of
performing a cervical esophagostomy which is then gradually moved caudally to bridge the
gap [67]. This strategy is sometimes useful in very unfavorable cases but necessitates many
general anesthesia with a high rate of post-operative related complications such as vocal cord
paresis [56, 67, 68]. Very long gap EA may be managed with a combination of Foker’s and
Kimura’s techniques [69]. Recently, Van Der Zee reported his initial experience of
thoracoscopic Foker’s procedure. To limit the risk of sutures cutting through esophageal wall,
he proposed to never apply additional tension on the traction stitches. When the pouches,
marked with metal clips, no longer seem to get closer on the daily chest X-ray, he suggested
to go back to perform adhesiolysis to facilitate further traction and elongation. The procedure
is performed as often as necessary until esophageal repair is achievable [70]. These results are
very promising but need to be confirmed in larger series.
The alternative to a conservative management by elongation or spontaneous growth is
esophageal replacement. Many techniques have been described including gastric transposition
[71–73], jejunal graft [74, 75], oesophagocoloplasty [76, 77], and gastric tube [78, 79] in
particular. The literature does not provide sufficient scientific evidence to fairly compare
these techniques [80–82]. Each provide theoretic specific advantages and disadvantages and
there is an agreement that a surgeon should perform the procedure he feels the more
comfortable with.
POST-OPERATIVE MANAGEMENT
After surgical correction of EA, baby should be admitted to intensive care unit. A full
term newborn may be extubated within the few hours following surgery. Non-invasive
positive pressure ventilation should be avoided to prevent anastomosis leakage. In case of
anastomotic tension, it has been described to keep the baby paralyzed with a neck flexion for
a few days. Chest drain should be kept a few days and can be removed if there is no evidence
for anastomotic fistula (sepsis, air or saliva in the drainage, pneumothorax). A trans-
anastomotic nasogastric tube placed during surgery should be kept in suction can allow early
continuous enteral feeding with small volumes 48 hours after surgery [83]. Oral feeding is
authorized after esophagogram performed in majority of cases 5 to 7 days after surgery [40].
Parenteral nutrition support should be administrated until oral feeding allows a sufficient
calorie intake. Gastro esophageal reflux is very frequent and should be treated by medication
to limit the risk of anastomotic stricture.
POST OPERATIVE COMPLICATIONS

Anastomotic leak occurs in 10 to 15% of cases. It is recognized either by clinical,
biological or radiographic findings in the first few post-operative days or either during the
control esophagogram (Figure 6). Conservative treatment is often achievable including gastric
aspiration, no oral feeding, wide broad antibiotic therapy and efficient fistula drainage. In
case of major anastomotic disruption or failure of conservative treatment, a reoperation
should be performed and esophageal diversion should be considered in difficult cases [84].
Anastomotic stricture (Figure 7) is very frequent after esophageal atresia and occurs in 20
to 50% of cases [85]. Risk factors are prematurity (born before 37 weeks of gestation),
VACTERL syndrome, GER, anastomotic tension, and anastomotic leakage [86]. The
majority of anastomotic stricture are treated by either balloon or bougie dilatation with only
minor complications reported [87, 88]. However, routine dilatation has not shown to be
pertinent [89]. Recently, an esophageal anastomotic stricture index based on the findings of
the first esophagogram has been described to help clinicians to decide if a dilatation is
preferable [90]. Treatment of GER is required to achieve conservative management of
anastomotic stricture. In case of failure of medical therapy to control GER, surgical
fundoplication should be considered in addition to dilatation.
Recurrent TEF is a rare but challenging complication, occurring in 5 to 10% of cases.
Early recurrent fistula are recognized on the first routine esophagogram (Figure 8). But
recurrent fistula can appear later in the post-operative course and diagnosis is made on the
assumption of respiratory and/or feeding issues and confirmed by contrast study. The
majority of cases require a reoperation. Endoscopy is performed as first step to recognize and
catheterize the fistula which then must be divided and a tissue must be placed between the
suture lines to prevent future recurrences [91]. Multiple grafts may be used such as
pericardium, pleural or muscle flap [92]. More recently, mini invasive endoscopic techniques
have been described and seem to be very promising [93, 94].
Figure 6. Post operative contrast study with major anastomotic leak (managed conservatively.
Figure 7. Post-operative contrast study demonstrating anastomotic stricture.
Figure 8. Post-operative contrast study demonstrating a persistent TEF.

PROGNOSIS
Prognosis of EA has dramatically improved on the last decades. Two recent large series
report a survival rate comprised between 95 and 97,5% in western countries [1, 2]. This
improvement is due to earlier diagnosis and transfer, making respiratory complications from
aspiration less common, better understanding of newborn specificity leading to specialized
training of neonatal surgeons, paediatric anaesthesits and neonatal intensive care personnel
and advances in neonatal supporting-life technology [95]. Thus, first prognostic classification
proposed by Waterston in 1962 (96) and the Spitz classification described in 1994 [97],
resumed in table 3 are probably outdated and need to be revised.
Table 3. Historical EA prognostic classifications. Legend: BW: Birth Weight; g: gram(s)
Waterston classification [96] Spitz classification [97]

Characteristics Survival rate Characteristics Survival rate (%)
(%)
BW > 2500g and otherwise 100 BW > 1500g and 97
healthy no major congenital heart
disease
BW 2000 – 2500g and 85 BW < 1500g or 59
healthy or BW > 2500g with major congenital heart disease
moderate associated
anomalies
BW< 2000g or major 65 BW < 1500g and 22
congenital heart disease major congenital heart disease
Since the 90’s, it seems that low birth weight premature survival rate has improved
leading some authors to describe a revised Spitz classification [98, 99]. A more modern
classification is resumed in table 4.
These classifications clearly indicate that birth weight and associated anomalies
(specially cardiac malformation) are the two mains prognosis factor. However, a third
important prognosis factor should be kept in mind. Indeed a link between the length of the
gap, anastomotic tension and post-operative complication rate has been demonstrated. LGEA
are also known to have a worse survival rate compared to standard EA. In France, on a 3
years period between 2008 and 2010, 49 LGEA have been treated and the survival rate after a
median 3 years follow up was 88% (personnal data).
Table 4. Updated EA prognostic classification. Legend: BW: Birth Weight; g: gram(s)
Revisited Spitz prognostic classification (99)

Characteristics Survival rate (%)
BW > 2000g and no major congenital heart disease 100
BW< 2000g and no major congenital heart disease 81
BW > 2000g and major congenital heart disease 72
BW < 2000g and major congenital heart disease 27
LONG TERM OF EA
GERD and Barrett’s Esophagus
GERD is associated with EA repair. Symptoms are described by 76% of children [100]. It
is a major concern because GERD does not seem to improve spontaneously with the growth
[101], and it may lead to severe esophageal complications. Persistent GERD 10 years after
surgery have been described in two recent studies affecting 40 to 45% to patients with
esophagitis being present in 67% of cases in a systematic histologic study [101, 102].
Persistent GERD is known to lead to Barrett’s esophagus and thus to be a risk factor for
esophageal adenocarcinoma. Routine endoscopic assessment of Barrett’s esophagus is
controversial. Prevalence of Barrett’s esophagus in a young adult population was 43% with
metaplasia present in some patients with no clinical complaint of GERD [102]. The authors
concluded in favor of a long-term systematic follow-up of the esophageal mucosa including
multistaged biopsies. On a other hand, other endoscopic study only demonstrated metaplasia
in 4% of kids (103). Anyway, Barret’s esophagus is a real concern for long term cancer
development. Thus, esophageal cancer has only been described a few times after EA repair
[104–106], and Rintala et coll. did not found out any esophageal cancer in the 272
consecutive finish EA surviving more than 7 days treated between 1949 and 1978 [107].
Anyway, the risk of progression to cancer probably exists; a recent study of 10 cases of
pediatric Barret’s esophagus showed genetic markers in 50% of them, which were also
identified in adult patients with Barrett adenocarcinoma [108].
A long term endoscopic follow up is proposed, every 3 years in absence of metaplasia
and twice a year in case of metaplasia by some authors [109]. Surgical treatment of persistent
GERD is required in almost 40% of patients born wih EA [110].
Respiratory Outcomes
Newborns with EA are exposed to swallowing disorder, aspiration leading to recurrent

lower respiratory tract infection, GERD, and sometimes post-operative or malformation chest
wall deformities [111]. These factors all lead to respiratory function impairment which may
be worsen by tracheomalacia associated with TEF [112]. A recent study of 43 patients with a
median age of 8 years demonstrated cough and choking in 72% of patients, dyspnea and
wheezing in 53% patients, asthma in 25% and recurrent respiratory infections in 44% of
children [113]. Pulmonary test function on a population of 31 children also with a median age
of 8 years demonstrated anomalies in 68% of cases including obstructive disease in 19%,
restrictive disease in 23% and bronchial hyperresponsiveness in 26% of children [114]. There
is a lack of long-term good quality study about respiratory morbidity in EA. A Swedish
retrospective study revealed on a young adult population (median age 35 years) that 71% had
experienced a wheezing episode over the last 12 months, 43% complained of Long-standing
cough over the last few years and 82% had abnormal pulmonary function [115].
Follow up
Despite drastic improvements in the management of babies born with an EA in the last
decades, leading to previously unexpected survival rate in Western countries, long term
morbidity persists. A multidisciplinary follow up including surgeons, gastroenterologists,
pneumologists and paramedical staff is mandatory to ensure a global management. French
authorities have edited a national protocol of follow up to guide the clinicians [116]. An
initial close clinical follow up with consultations at 3, 6, 12, 18 and 24 months are proposed.
Then a 24 hours pH-metry is advocated in absence of medical treatment for GERD between 2
and 3 years old. Then the children should be seen every one or two years with pulmonary test
function between 7 and 9 years old and at least a gastro esophageal endoscopy with
systematic biopsies between 16 and 17 years old. The follow up must be extended in
adulthood and probably throughout life. A particular attention should be paid to prepare
transition to adult centers to avoid a break in the follow up in these still very young patients.
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Chapter 9
CONGENITAL DIAPHRAGMATIC HERNIA
Naziha Khen-Dunlop, MD, PhD

Pediatric Surgeon, Department of Paediatric Surgery,
Hôpital Universitaire Necker-Enfants malades,
Paris, France
ABSTRACT
Congenital diaphragmatic hernia (CDH) affects about 1/ 2500 births [1]. Two forms
are described: the posterolateral defect in 80% of cases (Bochdalek hernia) and the
anterior defect in 20% of cases (Morgani-Larrey hernia). Because of its frequency and its
severity, posterior Bochdalek hernia focuses the interest and is usually confound with the
denomination of “congenital diaphragmatic hernia” (Figure 1).
Keywords: Diaphragmatic Hernia, Bochdalek, Morgani Defect, Prenatal Management,

Prognosis factor, Surgery
INTRODUCTION
Although the etiology of the malformation remains unknown, the cause is a disturbed
separation of the thoracic and abdominal compartments during the 8th week of gestation with
a failure of the fusion of the septum transversum and the pleuroperitoneal folds [2]. The
hernia is mainly observed on the left side (80-85%) but may also concern the right side (10-
15%) or be bilateral (1%).The physiologic positive abdominal pressure leads to intrathoracic
ascension of abdominal content and impairment of lung development [3]. Depending on the
level of the compression, the lung hypoplasia may be ipsilateral or bilateral with decreased
pulmonary weight and bronchial branching. Lung vascularization is also affected with
abnormal arterial muscularization causing postnatal pulmonary hypertension [3]. Pulmonary
hypoplasia and pulmonary hypertension are responsible for the severity of CDH.
90 Naziha Khen-Dunlop
Figure 1. Chest X-ray. Left postero-lateral diaphgramatic hernia. Neonatal form. The trachea and the
heart are shifted to the right. Aeric images are seen in the left hemithorax corresponding to bowel loops.
Improvements in post-natal resuscitation and lung preservation management of the past

decades led to a decreased of the postnatal mortality from 50% to 30%. But this rate still
remains elevated and management of CDH stays challenging [4].
DIAGNOSIS
About 70% of CDH are diagnosed prenatally. The first US sign is usually a mediastinal
shift at the first or second trimester exam. The detailed morphological analyze of the stomach,
the liver and the bowel positions leads to the diagnosis of the ascension of the abdominal
content. The diaphragmatic muscle is difficult to explore on US. Complementary data can be
obtained on MRI, especially for diaphragmatic and lung description. During the prenatal
period, 3 points are essential:
1/ Fetal tolerance has to be evaluated. Cardiac function, fetal movements and
polyhydramnios have to be assessed and followed as reflect of mediastinal compression when
apparition of hydrops is the sign of fetal distress and fatal prenatal issue.
2/ As for all congenital disease, exploration of associated malformation is necessary.
Heart malformations are about 15% (ventricular septal defect, tetralogy of Fallot, double
outlet right ventricle, transposition of the great vessels, …). The classically observed left
ventricular hypolpasia has not to be included, as it appears as a consequence of the hernia
compression and as it reverses after hernia repair. Genetic syndromes or chromosomal
Congenital Diaphragmatic Hernia 91
anomalies are often associated with other morphological anomalies (central nervous system,
craniofacial defect, genitourinary or skeletal) leading to the denomination of non-isolated
CDH [5]. About 50 genetic syndromes have been associated and among them Fryns
syndrome, Donnai-Barrow, Beckwith-Wiedeman, Cornelia de Lange and Simpson-Golabi-
Behmel, Pallister-Killian, Trisomy 18, 13 and 21 and Tetrasomy 12p are also classically
associated to CDH and checked with prenatal karyotyping, either realized for all CDH or only
in case of non-isolated CDH, depending on medical teams practice [5].
3/ Estimation of lung volume is the best prognosis factor. The degree of pulmonary
hypoplasia is estimated on the measurement of visible lung volume, which can be measured
by ultrasound and normalized to the cephalic circumference. It is the absolute lung to head
ratio (LHR). Observed/expected lung-to-head ratio (o/e-LHR) was secondary developed,
reporting the lung-measured volume to the theoretical lung volume for the term [6]. Severe
forms are defined by an absolute LHR < 1 or o/e-LHR < 25%.
Diaphragmatic hernia may be diagnosed at the early postnatal period because of acute
respiratory distress. Delayed diagnosis can also be made, classically on mild respiratory
distress or feeding problems. Theses postnatal forms are mainly explained by small
diaphragmatic defect without technical difficulty for the surgical repair. Their respiratory
prognosis is excellent but they can be complicated by gut or stomach infarction (Figure 2).
Figure 2. CT scan scoot view. Left diaphragmatic hernia. Post-natal diagnosis at 13 months. The
esophagus is shifted to the right. The stomach is pulled up in the chest with a compression of the upper
and lower lobes.
MANAGEMENT
Prenatal Management
Fetal surgery was developed by North American teams with as a pioneer Michael
Harrison in San Francisco and the staff of Children's Hospital of Philadelphia with Alan Flake
and Scott Adzick [7].Fetal interventions are cons-indicated if there are chromosomal
abnormalities, multiple pregnancy, fetal malformations associated or maternal risk
factors.Gradually open surgery, because of the high risks of prematurity and uterine sequelae,
gave way to interventions by fetoscopy for the vast majority of interventions [8].
The first attempts to diaphragmatic repair in utero failed due to fetal death during hepatic
reduction, probably on creating an obstacle to the umbilical venous return [9].Tracheal
obstruction by fetoscopy was developed by the team of Jacques Jani and Jan Deprest in
Belgium since the late 1990s [8]. The tracheal obstruction by a balloon leads to an increase in
intra-pulmonary pressures that stimulates lung growth, thanks to lung fluid secretion. This
growth, however, is at the expense of the maturation of type II pneumocytes and therefore the
synthesis of surfactant. The efflux of fluid from the lung is necessary for cellular
differentiation, expression of growth factors and normal lung development [10, 11].Thus the
ideal sequence that allows dynamic exchanges of fluid comprises an obstruction between 27
and 30 weeks gestation (PLUG) followed by removal of the balloon at 34 weeks (UNPLUG).
The rate of premature rupture of membranes is about 17% at the first week and 50% at 30
days after the procedure.The median time of birth after PLUG is of 35 weeks with a birth
before 34 weeks in 30% of cases. The risk of prematurity is directly related to the duration of
the procedure and therefore to the operator experience [12]. This procedure, reserved to very
few specialized centers, has been validated as part of a randomized trial, showing
improvement of the survival of severe forms of CDH [8].
Postnatal Management
Neonatal management of newborns with CDH is now well codified. The principles are to
minimize the pulmonary stress, hypoxia and acidosis to limit pulmonary hypertension and to
reduce the risk bronchopulmonary dysplasia [13]. This management starts at the delivery
room with analgesia, sedation and intubation for immediate ventilation.The initial monitoring
for 24 to 48 hours in the intensive care units, allows assessing the quality of the lung
parenchyma and the degree of hypoplasia before surgery. Recommendations are based on
permissive hypercapnea strategies and “gentle ventilation” to prevent pulmonary barotraumas
and to preserve best lung exchanges as possible. Pulmonary hypertension is manage in
parallel, first with inhaled nitric oxide (NO) and if persistent with Sidenafil. In case of
refractive pulmonary hypertension, extracorporeal membrane oxygenation can be proposed.
Right CDH are classically repaired by right thoracotomy or right laparotomy and left
CDH by transverse laparotomy. The intervention can also performed by thoracoscopy during
the neonatal period, but the difficulties of exposure, the longest duration of action and 3 fold
higher risk of recurrence in further limits the indications even for trained teams [14].
Moreover, one other limit is that thoracoscopic repair of CDH was associated with
intraoperative hypercapnia and acidosis compared with open surgery, with potential
neurologic consequences [15].Systematic CO2 monitoring has thus to help to define the
conditions and the safety of this approach.
The procedure begins with the reduction of herniated organs: the small intestine and
colon, often spleen and stomach, sometimes the liver and the kidney more rarely.The
exploration of the diaphragm is the essential time. The posterior edge is always hypoplastic
but in various degrees. The size of the defect determines the type of repair.With a good
diaphragmatic quality, direct repair is done. When the diaphragm is too hypoplastic, the
closure of the defect requires tensioning and causes significant thoracic deformity. A
prosthetic patch has to be used. A hernial sac may be found and resected or plicated at the
surgery.
OUTCOME AND FOLLOW-UP

Prognosis Factors
Prenatal prognosis factors have been developed to try and predict the severity of CDH
and to help prenatal counseling.The most important appears to be the evaluation of the lung
volume with the LHR. It is a strong factor and routinely used by all the teams with quite
clear-cut offs [16]:
LHR < 15% 15-25% 26-45% > 45%

Survival 0 20% 60% 90%
The presence of the liver in intrathoracic position constitutes itself as a severity criterion,
with a global survival about 75% when the liver is down (intra-abdominal) and 50% when it
is up (intra-thoracic) [16]. Certainly the volume of the displaced liver has an importance but
complementary evaluation are still necessary to precise this point.
Early diagnosis seems also associated to more sever forms probably linked to a longer
compression time and higher level of lung hyploplasia. Diagnosis of the first trimester is to
consider as a poor prognosis factor [17].
Among postnatal factors, prematurity has a very important influence on CDH evolution,
adding lung immaturity to hypoplasia. A birth as latter as possible has to be preferred as
premature delivery in CDH infants has been associated with a lower survival rate [18].
Considering this point, particular attention should be paid to PLUG.After the fetal procedure,
premature birth are expected in about 20% in the first week and in about 50% at 30 days with
one third of the births before 34 weeks and a median birth at 35 weeks [8].
Birth age < 30 WG < 33 WG > 33 WG

Survival after PLUG 0 25% 60%
Long-Term Morbidity
Recurrences of the hernia are observed from 10 to 40% with an increased risk in case of
patch repair or thoracoscopic procedures, with about 70% occurred within 2 years following
repair [19]. The need of re-intervention and its timing has to be discussed, regarding the
volume of the hernia and clinical signs [19]. Because associated symptoms may be mild,
regular chest X-rays are recommended until the end of the growth.
Pulmonary outcome are the first point of concern with recurrent cough reported in 10 to
50% of school-age children and wheezing episodes in 20 to 40% and about 30% of the CDH
survivors demonstrate obstructive signs on pulmonary testing. [20, 21]. CDH patients with
severe lung hypoplasia and among them those who received ECMO support showed chronic
lung disease and appeared to deteriorate over time [22]. For the other, pulmonary
repercussion was shown to improve over time with the growth of the lungs and the bronchial
tree, and pulmonary signs decreases as well as catch-up of lung volumes are reported during
childhood [20, 23]. However, because of the bronchial reactivity, careful pulmonary follow-
up is needed during childhood.
Chest wall deformity is observed in 40 % of the patients, pectus excavatum in 20% and
scoliosis in 10%, but the severity is variable and increases with the severity of the CDH and
patch repair [20]. Thus numerous materials are proposed, new ones are tested and the place of
muscle flaps is still discussed. As the best patch that will be able to grow with the chest is still
to be find, lung hypoplasia or neonatal chest infection may play a role in the lack of lung
developement and thus chest growth.
CDH patients experience gastro-esophageal reflux (GER) at very high rates. While
symptoms are described from 20 to 50%, pH probe and impedance analysis showed 86% of
children had documented reflux with a need of surgery for GER about 20-30% [22, 24]. As
for the other babies, reflux decreases or disappeared within the first year of life in half of the
cases. Associated nutritional and pulmonary consequences of GER are added to the
morbidity. Failure to thrive is being present in more than 30% of patients that remain below
the 25th percentile of weight, managed in most severe cases with gastrostomy tube placement
[24]. Small bowel obstruction is observed in 15-20% of cases [24]. It is the first cause of
reoperation CDH patients. It may be an isolated band or most often a volvulus with a high
risk of ischemia, intestinal perforation and sepsis.
Neurodevelopmental squeal are observed in 10 to 30% of CDH survivors with
neuromotor delay, learning difficulties and hearing impairment. There are from a combined
origin: constitutional and potentially linked to a syndromic form but also secondary to the
prematurity and the ressucitation period. ECMO treatment, right-sided CDH, intrathoracic
liver position, patch repair and oxygen use on day 30 of life was shown to be correlated with
neurodevelopmental defects [22].
CONCLUSION
CDH stays a lethal congenital malformation with a highly unpredictable evolution.
Despite the progress in the perinatal management of congenital diaphragmatic hernia, many
unsolved problems remains and understanding of congenital diaphragmatic hernia
physiopathology stays one of the first challenges for pediatric surgeons and neonatologists.
The long-term monitoring is an essential part of the care because of respiratory squeal,
nutritional consequences, and neurological impairment and thoracic and spine deformity has
to be managed until adulthood [25].
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Chapter 10
NEONATAL INTESTINAL OCCLUSION
Naziha Khen-Dunlop, MD-PhD

Pediatric Surgeon, Department of Paediatric Surgery-
Department of Paediatric Pulmonology
Hôpital Universitaire Necker-Enfants malades, Paris, France
ABSTRACT
Digestion is a primordial function that sets up early in the fetal life. From 15 weeks
gestation swallowing is present as a reflex mode and prenatal US shows that intestinal
contractions are present since 25 weeks, initially uncoordinated until an effective
peristalsis at 32-33 weeks. In the last trimester, amniotic fluid digestion contributes to the
intestinal maturation but also participates in the nutrition of the fetus.
Most of neonatal occlusions are a prenatal event. Depending on the level of small bowel
atresia (duodenal, jejunal, ileal), the impact on the gut varies prenatally. Postnatally, the
consequences are also variable but it requires an intervention in most of case that will
allow the restoration of digestive continuity. Depending on the global quality of the
bowel and its length, parenteral nutrition support may be necessary for a more or less
long period. Congenital colonic occlusions account for half of all cases of neonatal
occlusion and can be classified into two major groups: functional or mechanical. Main
functional obstructions are Hischsprung diseases, chronic pseudo-obstruction or
microcolon syndrome.
The goal of the post-natal management is double. First, it should prevent the
secondary intestinal damages, with a gentle per-operative manipulation, and minimal
intestinal resection. Secondly, it has to optimize the functional maturation with an early
enteral nutrition but without overload, a quite delicate balance.
Keywords: intestinal occlusion, duodenal atresia, jejuno-ileal atresia, midgut volvulus,

colonic atresia, meconium plug syndrome megacystis - microcolon - intestinal
hypoperistalsis syndrome, hirschsprung disease
Figure 1. Prenatal US (Dr JP. Bernard). Diagnosis of duodenal atresia with a typical imaging of a
double bubble.
DUODENAL ATRESIA
The prevalence of duodenal atresia is about 1/2 500 births. The diagnosis is made during
the second or the third trimester, based on ultrasound detection of simultaneous gastric and
duodenal distension: the double bubble sign (Figure 1). Polyhydramnios is usually associated
because of amniotic fluid transit interruption, especially at the third trimester [1].
The cause of the duodenal obstruction remains unclear. Because of a high rate of
associated malformations, duodenal atresia differs from other atresias and one of the
hypothesis is an early developmental disorder as an insufficient vacuolation of the epithelium.
However, the hypothesis of vascular accident is also proposed. Although the annular pancreas
may be associated, it seems to be a consequence of the local duodenal reorganization more
than the cause of the obstruction.
Figure 2. Duodenal atresia. X-Ray at birth showing the abdominal double bubble with a hair-liquid
level and without bowel aeration downstream.
Neonatal Intestinal Occlusion 99
Wide variety of associated malformations is observed from 50 to 80% [2]. Duodenal

atresia was classically associated to Down syndrome in one third of the case. In countries
where the screening of trisomy 21 at the first trimester has been generalized, with early
karyotype analysis, this incidence is artificially lower because of early pregnancy termination.
Congenital heart diseases are found in 25% of cases, malrotation in 20%, esophageal atresia
in 10%, genitourinary malformation in 10%, anorectal anomalies in 5%. Other bowel atresias
may also be present and necessitate the checking of the entire bowel permeability at the time
of the surgery.
The postnatal diagnosis of duodenal atresia is confirmed on vomiting, most frequently
bilious, and double-bubble sign on x-ray examination (Figure 2).
The diamond-shaped duodenoduodenostomy described by Kimura in 1990 has become
the standard surgical procedure [3]. In case of annular pancreas, the pancreas should be
bypassed and never divided to avoid bile or pancreatic ducts injury. In case of duodenal web,
the duodenum is opened thought a longitudinal incision that allowed the membrane resection
that have to be particularly careful at the posterior part to avoid damages of the ampulla of
Vater. A tapering duodenoplasty can be realized at the primary operation to avoid
postoperative duodenal dysmotricity, whereas benefit of transanastomotic feeding tube
remains debated [4]. In the postoperative period, bile-stained aspirations are usual because of
gastric and duodenal dysfunction, secondary to the chronic prenatal dilatation. Time to get
effective peristalsis and thus begin oral feeding is about 2 weeks and may require transient
parenteral support [5]. Late complications included adhesive bowel obstruction but no short
bowel syndrome. Even in case of fast initial recovery, megaduodenum may be observed many
years after primary surgery and necessitates a delayed tapering.
JEJUNO-ILEAL ATRESIA
The prevalence of small bowel atresia is about 3/10 000 births. The diagnosis is generally
made during the second or third trimester, based on ultrasound detection of bowel dilation [1].
Polyhydramnios is observed in about 50% of cases in proximal intestinal obstruction and
about 10% in distal ileal atresia [1]. Cystic fibrosis is associated in about 10% of intestinal
atresia and has to be checked prenatally. Genetic factors are not involved, except in very rare
syndromic forms of multiple atresia [6]. The obstruction is related to a fetal vascular event
secondary to mesenteric ischemia, intestinal volvulus, intussusception or strangulation [7].
Surgical repair of the atresia is necessary soon after birth because of the bowel
obstruction, and usually consists on a gut resection-anastomosis. In more than 75% of cases,
there is one unique atresia and the bowel length is normal. In 10% of cases there are multiple
atresias and in 15% an apple peel syndrome. These two particular forms are those among
which short bowel syndrome may be an exceptional but serious complication.
Surgical repair is followed by severe intestinal dysmotility in about one-third of cases,
necessitating prolonged parenteral nutrition [8]. These neonates are at risk of sepsis and
parenteral nutrition-induced liver disease, and require lengthy and costly inpatient
management. The pathologic mechanisms underlying these motility disorders are unclear, and
treatment is therefore empirical and ill defined. Recent studies have shown that activity-
dependent and nutrition-dependent mechanisms can participate in the regulation of
neuromediator expression in the enteric nervous system (ENS) in embryonic neurons [9]. The
ENS is an integrative network made up of neurons and glial cells derived from the neural
crest. It is located all along the gut and regulates intestinal peristalsis and secretion [10]. It
comprises the myenteric plexus, which primarily controls motor functions, and the
submucosal plexus, which regulates electrolyte transport, intestinal barrier permeability and
mucosal blood flow.
Amniotic fluid has been indeed reported to contain various neurotrophic factors that
participate in the maturation of gut functions and could enhance ENS maturation by
activating enteric neurons, leading to increased expression of enteric neuromediators [11].
Atresia results in an interruption of amniotic fluid below the obstruction thus phenotypical
changes could also be the direct consequences of the intestinal obstacle. Initiation and
regulation of small-bowel motility depends on normal functioning of several structures, and
particularly ENS. On the other part the lack of mechanical or nutritional stimulation in the
distal segment, that is mandatory for phenotypic and functional maturation, also contribute to
significant alteration of the part below the obstruction.
Chronic bowel distension leads to parietal alteration of the proximal dilated segment with
intestinal muscles elasticity impairment that can be irreversible (Figure 3). If the length is
limited, resection of the hypotonic intestinal loop is realized before the anastomosis to avoid
intestinal fluid stagnation and bacterial pullulating. As in duodenal distension, if the dilated
part is too long, tapering seems to be a good option as reduction of intestinal diameters
improves the global capacity of propulsion.
Figure 3. Jejunal atresia. Persistent bowel dilation despite a permeable anastomosis. The hypo-
contractility leads to obstruction syndromes. A longitudinal tapering was proposed.
MIDGUT VOLVULUS
Prognosis of midgut volvulus is linked to the extension of vascular compromise of the
intestine. Anomalies of gut development, causing a narrowed small bowel mesenteric root,
results to an instable position which is considered as the major cause of midgut volvulus with
risk of extensive intestinal necrosis. Complete midgut volvulus can then lead to irreversible
intestinal necrosis and extensive resection may be needed. Thus, complete midgut volvulus is
recognized as one of the three most common causes of short bowel syndrome in the pediatric
population after necrotizing enterocolitis and intestinal atresia and delayed diagnosis remains
a dramatic situation [12].
There is no case of prenatal description of complete midgut volvulus. Regarding prenatal
diagnosis of intestinal malposition, the sensitivity of prenatal US anomalies is low and that
only indirect signs can be seen [13]. The midgut volvulus, i.e. bowel obstruction, seems to be
a post-natal event. In 80% of cases, complete volvulus occurs before the first year of age and
among them, 60% are diagnosed before the end of the first month of life, when this
anatomical condition may remain completely asymptomatic [14]. Ultrasound examinations
classically show inversion of mesenteric vessels position or more rarely the typical “whirlpool
sign” [15]. But the mesenteric vessels could appear in normal location and the whirlpool sign
could be missed on US exam [14]. The upper gastrointestinal contrast still remains the most
accurate and sensitive method for volvulus diagnosis and should be performed in case of
discrepancy between clinical presentation and US conclusions [16].
Contrary the total midgut volvulus, segmental volvulus mainly occurs during the prenatal
period and it is associated to atresia in half of the cases. Contrary to “simple” atresias, it is a
quite late prenatal event and launching premature delivery for an early surgery at birth is
proposed to prevent intestinal necrosis. The promptness of infarction constitution after
segmental volvulus may likely explain the poor chances to obtain intestinal recovery by early
neonatal surgery. As fetal demise has been reported, cautious fetal survey remains however
mandatory to propose emergency delivery in case of persistent fetal distress [17].
Postnatally, the clinical presentation of complete and segmental volvulus is somehow
similar: recurrent vomiting or bilious vomiting and abdominal pain, with the exception that
abdominal distension is usually absent in complete volvulus.
COLONIC ATRESIA
While nearly 50% of congenital obstructions of the small bowel are diagnosed prenatally,
cases related with colonic involvement are almost non-existent, except for anorectal
malformations [18]. Current knowledge of the physiology of fetal intestine remains too
limited to explain why a complete colonic obstruction, that will become symptomatic at birth,
is not associated to prenatal intestinal dilatation, even when it is a complete colonic atresia. In
the same way, prenatal diagnoses of Hirschsprung disease are total forms and only the signs
of the small bowel occlusion lead to the diagnosis [19].
Figure 4. Colonic atresia with mesenteric vascular anomalies. The vascular pedicle is all along the gut
(black arrow).
Colonic atresias are the less frequent form of intestinal atresia (5-10%), with an estimated
incidence of 1/20 000 births. As for small bowel atresia, their origin is attributed to
mesenteric vascular accident causing intestinal ischemia with a subsequent fibrous scar. In
80% of cases, mesenteric attachment anomalies are found (Figure 4).
Half of the cases are isolated forms and the other half cases are mainly related to
gastrointestinal diseases: multiple intestinal atresia, gastroschisis or Hirschsprung disease
[20]. When isolated, the diagnosis is made on postnatal occlusion signs that associate bilious
vomiting, abdominal distention and lack of meconium pass. Because of the distal location of
the obstruction, the first symptoms appear several hours after birth, sometimes even after days
of evolution, and usually the first food intake are quite well tolerated [20]. This delay in the
diagnosis and the significant colonic associated distension, led to propose bowel diversions as
first treatment. But this attitude is no longer systematic and depending on the peroperative
findings, the anastomosis can be performed immediately [21].
Colonic atresias are also described in gastroschisis, at the time of the parietal closure. The
incidence is about 5%. Checking the colonic permeability has always to be done during the
closure procedure, because of gut kicking on the parietal ring.
The association with Hirschsprung's disease is also classical, although very rare. In this
case, the diagnosis of aganglionosis may be delayed for a few days or even several years.
Hirschsprung's disease should always be suspected, not only in case of complications after the
colonic atresia repair, such as in cases of postoperative fistula or secondary bowel
obstruction. A rectal biopsy has thus to be performed [22].
Colonic atresias have good prognosis when early managed, with mortality under 10%.
But this rate may reach 25%, if the diagnosis is made after the 72th hour, due to septic
syndromes, secondary to intestinal bacterial overgrowth, or perforation [23].
MECONIUM PLUG SYNDROME

Meconium plug is the leading cause of functional occlusion in neonates. For some, the
meconium plug is considered as the initial factor with a consequent downstream microcolon
by lack of transit. For others, it is a primary colonic functional disorder that gives the
microcolon and then meconium plug is subsequent [24]. Although the origin of this disease is
unknown, there is a maternal terrain favoring since 5-10% of maternal diabetes and 10-15%
of maternal hypertension are reported and a left microcolon (symptomatic or asymptomatic)
was found in approximately 50% of newborns of diabetic mothers [25].
The clinical presentation is that of an early neonatal occlusion: abdominal distension,
vomiting and lack of transit. But in 20% of cases a first meconium is observed [26]. The
initial tolerance is good, with no signs of inflammation or intestinal parietal pneumatosis. But
abdominal distension may be poorly tolerated, because of ventilatory restriction or septic
complications.
The diagnosis is made after washing the distal colon by a nursing, with or without enma
that facilitates the evacuation of the meconium plug by a local osmotic effect. When
performed in radiology, the images show a small caliber left colon upstream of a compliant
rectum without other morphological anomalies. A microcolon extended to the whole colic
questions the diagnosis and evokes a nonfunctional colon obstruction as high colonic atresia,
Hirschsprung disease or cystic fibrosis. Persistent bowel dysfunction after the evacuation
should also alert and thus lead to perform a rectal biopsy, as 10-15% of meconium plug
syndrome are associated to Hirschsprung's disease [26].
Meconium plug is true mechanical obstruction but that do not require surgery ... The
evolution is simple as long as the treatment is fast and effective but as with all the occlusions,
there is a risk of perforation if the obstruction is not removed.
MEGACYSTIS - MICROCOLON -
INTESTINAL HYPOPERISTALSIS SYNDROME
This syndrome is the most severe form of congenital intestinal obstruction of the
newborn but also the most rare. About 200 cases have been published, with a clear
predominance in girls (70%) [27]. It belongs to Chronic Intestinal Pseudo Obstruction but in
an extreme form and corresponds to a total functional failure of visceral contractility whose
origin remains misunderstood: neurogenic? myogenic? genetic? hormonal? [28]. Although
clinical observations are in favor of an autosomal recessive disorder and candidate genes have
been proposed by animal models, none has been formally involved in humans [29].
Unlike other causes of colonic obstruction, the diagnosis may be suspected prenatally
before an isolated megacystis, and can lead, given the severity of the condition, to an abortion
[30]. The biochemical prenatal study may be helpful in combining the analysis of amniotic
fluid (with a bowel obstruction profile) and analysis of urine bladder (normal except
hypercalciuria) [30].
In post-natal period, diagnosis is made on the combination of an occlusive presentation or
sub-occlusive microcolon with no mechanical barrier, and megacystis without urethral
anomalies, discovered during the morphological explorations or peroperatively [31].
The mortality rate is around 80%, the vast majority secondary to septic complications due
to digestive origin or translocations from the central lines. Among survivors, the care is
fraught with the use of parenteral nutrition for all life-long or bowel transplantation, and in
addition the management of bladder dysfunction by intermittent catheterization [32].
HIRSCHSPRUNG DISEASE
The incidence of Hirschsprung's disease is estimated at 1/5000 births with a sex ratio 4
boys to 1 girl but this proportion decreases with the length of the affected segment and goes
to 1: 1 in the extended forms. It represents a quarter of neonatal occlusions after small bowel
atresia and anorectal malformations [33/27]. Intestinal obstruction is the result of
hypertension in the aganglionic gut devoid of intrinsic innervations (= the enteric nervous
system). The muscular walls are then only submitted to the sole extrinsic nerve supply, which
the dominant is cholinergic and constrictive. In 80%, the form is extended to the sigmoid, in
5% of cases extended to the whole colon and in 1% of cases the aganglionosis is extended to
the small intestine, and in exceptional cases up to stomach [34/29].
The classical clinical presentation is early neonatal occlusion, with a distension of the
colon upstream, and a meconium emission beyond the first 48 hours of life. But the
constitution of the occlusion can also be delayed, typically at weaning from breastfeeding.
Abdomen radiography displays an overall digestive distension with no rectal aeration.
Provided that it is a short form (ie in at least 80% of the cases), that the rectal nursing can
reach the retention area, and leads to immediate a gas and stool debacle. In case of uncertain
diagnosis, an anorectal manometry can be proposed. But this technique is difficult to interpret
in the newborn, due to the neuromuscular immaturity. The barium enema, which especially
helps in assessing the length of the aganglionic area, shows in the classical rectosigmoid form
a small caliber distal colon but without stenosis or intrinsic obstruction with distended colon
upstream (Figure 5). In total aganglionic forms, imaging may be misleading because the
colon is steady, without variation in size but with a rigid tubular appearance and associated
with a disappearance of the sigmoid loop.
The formal proof of Hirschsprung's disease is based on rectal biopsy confirming the
absence of ganglion cells normally present in the submucosa and hyperplasia of cholinergic
nerve fibers in acetylcholinesterase immunostaining. This technique is difficult, considering
the size of the samples and the small diameter of the nerve cells in the neonatal period,
particularly in the submucosa. Other markers are regularly evaluated, as calretinin for
example [35/39]. Surgical biopsy, performed in the operating room, has the advantage of
being larger and deep, containing the two plexus: mucous and inter-muscular. However, it
requires general anesthesia and is therefore carried out in second intention.
In case of delayed diagnosis or delayed care, the risk is the occurrence of enterocolitis.
This is observed in 15-20% of neonatal forms. It is secondary to gastrointestinal stasis and
bacterial overgrowth. As with all colonic obstructions, perforations are rare (5%). They can
be spontaneous or secondary to nursing either because of inadequate equipment or because of
a weakening of the colonic wall by inflammation [36/42].
The treatment of Hirschsprung's disease is surgical: excision of the aganglionic zone with
a colo-anal anastomosis in normal segment, controlled histologically. Surgery can be offered
from the neonatal period without special technical features. However for some authors, and in
all cases if the neonatal clinical status is precarious, within 3 to 6 months will get a good child
growth and support intra- and postoperative in good conditions. In this case, nursings will be
performed at home by parents, educated in the initial hospitalization, 3 to 4 times a day, under
regular medical supervision, until the intervention.
Figure 5. Barium enema showing a small caliber of the distal colon, without stenosis or intrinsic
obstruction and a distended segment upstream in favor of a classical rectosigmoid form.
The good quality of the current management has limited the mortality in Hirschsprung
disease under 5%. It especially occurs after post-operative complications or when associated
malformations are present [37/44]. Surgical treatment is not always synonymous with
complete recovery and monitoring over several years is required. It can detect and help to
manage the residual bowel dysfunction [38/45].
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[14] Millar AJ, Rode H, Cywes S. Malrotation and volvulus in infancy and childhood.
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[15] Esposito F, Vitale V, Noviello D, Di Serafino M, Vallone G, Salvatore M et al.
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[16] Lampl B, Levin TL, Berdon WE, Cowles RA. Malrotation and midgut volvulus: a
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[17] Allahdin S, Kay V. Ischaemic haemorrhagic necrosis of the intestine secondary to
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[18] Anderson N, Malpas T, Robertson R. Prenatal diagnosis of colon atresia. Pediatr
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[30] Muller F, Dreux S, Vaast P, Dumez Y, Nisand I, Ville Y, Boulot P, Guibourdenche J,
Althusser M, Blin G, Gautier E, Lespinard C, Perrotin F, Poulain P, Sarramon MF;
Study Group of the French Fetal Medicine Society. Prenatal diagnosis of megacystis-
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digestive enzyme assay and fetal urinalysis. Prenat Diagn. 2005;25:203-9.
[31] Ballisty MM, Braithwaite KA, Shehata BM, Dickson PN. Imaging findings in
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[32] Raofi V, Beatty E, Testa G, Abcarian H, Oberholzer J, Sankary H, Grevious M,
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[33] Loening-Baucke V, Kimura K. Failure to pass meconium: diagnosing neonatal
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[34] Ruttenstock E, Puri P. A meta-analysis of clinical outcome in patients with total
intestinal aganglionosis. Pediatr Surg Int. 2009;25:833-9.
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Chapter 11
OMPHALOCELES AND GASTROSCHISIS
Sylvie Beaudoin MD, PhD

Pediatric Surgeon, Department of Pediatric Surgery
Hôpital Universitaire Necker Enfants Malades, Paris, France
APHP, Université Paris Descartes
ABSTRACT
Omphaloceles and gastroschisis are congenital malformations interesting the ventral
abdominal wall. Both are nowadays prenatally diagnosed in the first trimester of
pregnancy, and both may be surgically challenging when the visceral volume outside the
abdominal cavity increases. Otherwise, these two malformations are radically different.
Keywords: abdominal wall defect, prenatal diagnosis and management, associated

malformations, surgery
CLINICAL ASPECTS
Omphaloceles are various visceral herniations within the umbilical cord (Figure 1). The
viscera are thus covered by a sac, or amniotic remnants if the sac has ruptured. The umbilical
vessels do not join tightly entering the abdominal cavity. The liver is herniated in up to 60%
of the cases, and all forms can be observed ranging from single intestinal loop herniation to
major visceral extrusion.
110 Sylvie Beaudoin
Figure 1. Omphaloceles.
Gastroschisis on the other hand is a raw defect along an otherwise normal cord, almost
always right-sided.
The bowel is herniated without any covering, and the liver remains abdominal in all
cases. Internal genitalia may be exteriorized when the defect is large and so is the top of the
bladder in some cases (Figure 2). Clinical heterogeneity relies solely on the bowel injury
subsequent to the herniation, and is related to the degree of bowel matting.
Omphaloceles and Gastroschisis 111
Figure 2. Gastroschisis Left side: Thin bowel and mesentery; Right side: Congestive and peel covered
bowel.
Development
From 4 to 6 weeks of development (WD) the body stalk, future implantation of the
umbilical cord, is large and quite short, with a still unclosed abdominal cavity. The intestinal
loops elongate within the cord, giving the physiological umbilical hernia that will close
around 12WD. It has been emphasized that the umbilical hernia is physiologically located on
the right side of the cord, because after 6 WD the left umbilical vein becomes predominant.
The normal cord can be divided in two parts, a left part “pars vasculosa”, and a thin
“pars flaccida” wherein the developing midgut appears on the right side of the left umbilical
vein.
A rupture of the cord in this place would allow the bowel to keep growing outside the
hernia, without mesenchymal edge on the left side of the defect, nor amniotic remnants upon
the loops: these are the typical features of gastroschisis. The common view that omphalocele
112 Sylvie Beaudoin
is a persistent physiological hernia does not hold because to persist with the liver within, the
hernia has to be not physiological in the first place.
Epidemiology and Associated Malformations
Omphaloceles are very early disorders of the embryonic delimitation. They occur in
about one of 5000 live births and are as we saw very heterogeneous in their severity. 20 to
40% of the cases are classified as giants according to the volume or abdominal/visceral
discrepancy.
Half of the cases are associated to one or more malformations. One third has
chromosomal anomaly, such as trisomy (13, 18, and 21), one fourth has congenital heart
disease. Various syndromes include omphalocele, out of which the Beckwith-Wiedmann
syndrome (BWS) stands out because of its tumoral risk in infancy and childhood. In BWS
genetic support may be but not always found in 11p15. IGF2 regulation is abnormal, leading
to neonatal hypoglycemia. Clinical specifics include macrosomia, macroglossia,
visceromegaly, hemi-hypertrophy and particular ear feature (Figure 3).
Newborns affected by gastroschisis seldom display associated extra-digestive
malformations. The karyotype is normal and there are no syndromic forms. The malformation
occurs in about 1 of 8000 live births, with some tendency to increase in the last decades,
possibly due to a toxic factor yet unidentified.
Figure 3. Beckwith-Wiedmann syndrome (note the macroglossia and characteristic ear lobe).
Gastroschisis is likely due to an amniotic rupture along the umbilical cord in its pars
flaccida between 8 and 11 WD. As a consequence, the midgut elongates freely out of the
abdominal cavity, stretching outside its mesentery. With subsequent fetal growth the intestine
might suffer vascular compression, especially of venous and lymphatic flows, both by a little-
sized defect and mainly consistent with chronic intestinal volvulus. In some cases this leads to
more or less bowel ischemia and either intestinal shortening or atresia. These malformations
are thus to be considered as accompanying more than associated anomalies. The newborns
usually present with some degree of growth retardation, due to intestinal malfunction, and the
spontaneous labor onset is observed around 36.5 weeks of amenorrhea.
Prenatal Diagnosis and Management
Most of abdominal wall defect cases are nowadays prenatally diagnosed in the first
trimester in developed countries where systematic ultrasound monitoring of pregnancies is
available. Special regards must be then given to the bladder, especially when the exam
conditions are difficult, to avoid any confusion between gastroschisis and ruptured
omphalocele with inferior celosomia.
As gastroschisis is a developmental hazard, no further investigation is needed. Prenatal
monitoring will focus on fetal growth, amniotic fluid amount, and signs of intestinal suffering
such as bowel thickness and bowel dilatation. Prenatal MRI may also help giving additional
analysis of the mesentery. In case of oligoamnios in the third trimester, amniotic infusion(s)
can be offered to prevent further intestinal damage. Weekly monitoring of fetal cardiac rate is
proposed in late third trimester.
In omphaloceles, fetal karyotyping is mandatory, along with thorough study for
associated malformations especially of the heart. Regardless of the herniated visceral volume,
these malformations indeed alter the prognosis, and may lead to choose termination of
pregnancy in some cases.
(A)
Figure 4. (Continued)
114 Sylvie Beaudoin
(B)
(C)
Figure 4 A. Gastroschisis: note the free loops outside the abdomen; B: Omphalocele: the viscera are
enclosed within the cord; C: Ruptured omphalocele with bladder exstrophy, misdiagnosed for
gastroschisis.
Delivery
The delivery route might be either vaginal or by C-section depending of the institution,
without any demonstrated benefit of one or the other for the newborn. Babies with
omphaloceles are usually delivered by term. Early pre term delivery for gastroschisis cases
has been recently advocated for by some authors to minimize intestinal injury, but the results
remain controversial. For now, it seems wiser to choose this option in very few selected cases
when the fetal well-being is compromised with certainty.
Surgical Treatment
In the delivery room the newborn is enclosed within a sterile dressing to avoid septic
contamination, dehydration or heat loss. Venous access and gastric suction tube are placed
and the patient brought to the operating theater. (Figure 5).
Figure 5. Immediate Post natal management.
Depending on the visceral herniated volume, the abdomen may or not be closed
immediately after birth. Primary closure is achieved in about 80% of the cases irrespective of
the pathology.
When the abdomino-visceral discrepancy is too great to allow safe primary closure, even
with a parietal prosthesis, alternative staged procedures can be chosen in omphaloceles.
Conservative treatments use the sac itself as a dressing, waiting for the skin to cover it with
various topics applied to enhance the process. These methods lead to large eventrations that
will be cared for months or years later. Artificial silos are more commonly used since their
116 Sylvie Beaudoin
description by Allen and Wren. Progressive reduction is then made at bedside and allows
secondary closure, with or without parietal prosthesis, about a week later.
In gastroschisis the only option is temporary enclosure within an artificial silo. This latter
might be either preformed or tailored and stitched to the muscular layer around the defect. In
all cases extra care must be given to avoid abdominal hyperpressure which could lead to
vascular impairment, bowel necrosis, renal failure and eventually death.
Figure 6. Primary closed gastroschisis (left) and omphalocele (right).
Post-Operative Care
In minor omphaloceles the post-operative course is usually uneventful and the baby
might be early enterally fed then discharged, provided that no major associated anomaly is
found. WBS cases need nevertheless a thorough follow-up by abdominal ultrasound every 4
months until 3 years of age, and every 6 months the 3 years after, to prevent unknown tumor
development.
Giant omphaloceles on the other hand suffer some degree of pulmonary hypoplasia and
sometimes severe gastro-esophageal reflux (GER), which combination delay both respiratory
and alimentary autonomy. About 15% of the cases need fundoplication, gastrostomy and/or
tracheotomy placement, and represent the “high morbidity” group in this malformation.
In gastroschisis the bowel injury explains malabsorption and ileus. When the abdomen is
closed, daily enemas are performed to help intestinal recovery, while minimal enteral feeding
is started with mother milk or formulas without cow milk proteins. Parenteral nutritional
support is of the utmost importance as long as intestinal function is restored. Full enteral
feeding will be achieved after carefully monitored implement. GER may occur in about half
of the cases but does not require further surgery as in omphaloceles.
Prognostic Factors and Outcome
Gastroschisis has a survival rate over than 90%. The morbidity is mainly digestive, and
only few cases with prenatal volvulus or post-natal necrotizing enterocolitis suffer from short-
bowel syndrome. The remaining children will fully recover and have normal growth and life,
provided that neonatal management is optimal and nutrition respectful of the intestinal initial
debt.
In omphaloceles, the prognosis is primarily related to the associated malformations, even

in giant forms. Overall survival is about 90% of cases. Giant omphaloceles add a respiratory
morbidity that might reach the high morbidity group, but the remaining cases are discharged
at a median duration of 2 months and do not display any impairment in late follow-up.
Figure 7. Reduction steps within an artificial silo.

118 Sylvie Beaudoin
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PART THREE
MALFORMATION DISEASES
Chapter 12
CONGENITAL LUNG MALFORMATIONS
Naziha Khen-Dunlop, MD, PhD

Pediatric Surgeon, Department of Paediatric Surgery-Department
of Paediatric Pulmonology, Hôpital Universitaire Necker-Enfants maladies, Paris, France
INTRODUCTION
Advances in antenatal imaging over the past 10 years have dramatically changed
diagnosis and management of congenital lung disease, especially for the two lesions most
commonly detected: congenital pulmonary airway malformation (CPAM), previously named
congenital cystic adenomatoid malformations (CCAM), and bronchopulmonary
sequestrations (BPS). If early surgical excision is required for all symptomatic malformations,
management of asymptomatic cases is still controversial. Complete regression of
sequestrations or clinical and morphological improvement in congenital lobar emphysema
pleads for clinical watching. On the other hand, resection is advocated for cystic
malformations, because of an increased risk of acute respiratory distress, later infections and
the possibility of malignant transformation. Further studies and long term follow up are still
needed. The natural history and consequences of late complications of lung malformations
has to be compared with the benefits of elective resection and surgical morbidity.
PRENATAL DIAGNOSIS
Foetal lung malformations are relate about 1/20 000 pregnancies and are classified into
two major types based on their sonographic appearance: cystic or echogenic. Cystic lesions
are in the vast majority of cases congenital pulmonary airway malformation (CPAM),
previously named congenital cystic adenomatoid malformations (CCAM). Hyperechogenic
lesions may correspond to CPAM, bronchopulmonary sequestrations, congenital emphysema
or bronchial atresia.
CPAM are one of the most frequent lesions visualized during prenatal ultrasound [1].
Mediastinal shift is observed in 50% of cases and polyhydramnios in 20% of case, because of
a mass effect on mediastinum or oesophageal compression. These both signs do not have to
be interpreted as complications and do not lead to impaired lung development or foetal
distress. On the opposite, hydrops is present in about 10% of cases and is a sign of poor
cardiac tolerance either by decreased venous return or direct myocardial compression.
Hydrops is associated in more than 95% of case to foetal or neonatal death [2,3].
Bronchopulmonary sequestrations are the second malformations diagnosed prenatally.
The aspect is the same as the microcystic forms of CPAM or congenital lobar emphysema,
and only the visualisation of a feeding systemic artery can affirm the diagnosis. Despite their
volume, bronchopulmonary sequestration is usually well tolerated by the foetus and do not
lead to prenatal or post-natal symptoms. However, complications such as hydrothorax or
hydrops are reported but stay exceptional [4]. If persistent, they can also lead to pre or post-
natal death. Because of their reduced size during foetal life, bronchogenic cysts are rarely
diagnosed prenatally, and compressive effects in the foetus are very uncommon [2,5].
Prenatal diagnosis of lobar emphysema is rare and unspecific [6,7].
Two indications for prenatal intervention are identified: hydrops, due to the significant
risk of death, and persistent mediastinal compressive effect because of the risk of pulmonary
hypoplasia. However, a decrease in the volume of the malformations is usually observed
during pregnancy after the 30th week of gestation, resulting in an improvement in the
appearance of the lung parenchyma and foetal tolerance [2, 5]. Given the importance of
spontaneous regression in the third trimester of pregnancy, procedures are usually performed
after the 30th week and after the first test of maternal corticosteroids. In cystic lesions, a
simple puncture has little interest because of the high risk of secondary recurrence. Provided
that there is a large or dominant cyst, drain into the amniotic cavity achieves a survival rate of
70% when hydrops regresses, and the drainage is effective, with a collapse of the cyst and a
shift of the mediastinum. A second drainage may be required due to an exclusion of the drain,
which occurred in 1/3 of the cases [8]. Drains can also be placed to evacuate pleural effusions
compression, which can complicate pulmonary sequestration [9, 10].
Prenatal treatment of hyperechogenic lesion is still debated. Sclerosis of the mass or
coagulation of vascular pedicles has been proposed by some teams with mixed results [2].
The “disappearance” of congenital malformations of the lung on last prenatal ultrasound
was classically described and interpreted as a complete regression of the malformation. This
evolution, although such exceptional, was documented for sequestrations [11] but not for
cystic malformations, for which the US disappearance is attributed to changes in prenatal
morphologic feature at the third trimester. Thus, post-natal thoracic imaging (MRI or CT
scan) is required to check the persistence of congenital lung malformations, regardless of the
prenatal evolution.
Cystic Lung Malformations
Cystic lesions are congenital lung malformations for which complications are most often
reported (Figure 1). In the neonatal period, respiratory distress secondary to compression of
the lung parenchyma is the main symptom, described in 15 to 20% of the neonates. It leads to
an emergency operation in the first month of life in about 5% of the cases [6].
Congenital Lung Malformations 127
Figure 1. CT Scan. Right cystic malformation of the lower lobe (CPAM).
On the opposite bronchogenic cysts are small in the neonatal period and thus remain
asymptomatic long after birth (Figure 2). Gradually, intracystic secretions lead to cystic
growth and tensioning. This increase can be rapid and significant with symptoms related to
the compression of adjacent structures: the trachea in most cases, more rarely the oesophagus
or the vena cava and the myocardium. Cysts located just under the carena are particularly at
risk and life threatening because of the simultaneous compression of both bronchi [12, 13].
Although exceptional, symptoms can also be secondary to a fistula in the tracheobronchial
tree, oesophagus or lung tissue [14, 15].
Figure 2. CT Scan. Right paratracheal Bronchogenic cyst (C).
After the neonatal period, infection is the most common complication of cystic
malformations. It can be manifested by febrile episodes but also by recurrent respiratory
symptoms that are usually diagnosed and treated as asthma [14]. Chronic inflammation may
remain latent or be complicated by hemoptysis or pneumothorax [16, 17]. In all these cases,
the diagnosis of the malformation, if undetected prenatally, or the confirmation of the
complication is made on the chest CT scan.
To date, fifty cases of malignant degeneration of cystic malformations have been reported
in children, the youngest age at diagnosis was 1 year [18, 19]. Three kinds of tumours are
described: pleuropneumoblastoma, bronchioloalveolar carcinoma and rhabdomyosarcoma.
These tumours have been mainly described in CPAM but also, even though exceptional in
bronchogenic cysts [20, 21]. In CPAM, the risk seems to depend on the type of cystic
malformation: clearly associated to type 1 and type 4 CPAM when type 2 CPAM seemed not
involved [22, 23]. Intracystic mucinous cell clusters, with K-ras mutations, have been
described in type 1 CCAM, making these lesions potential precursors of bronchioalveolar
carcinoma [24]. These concordant data strongly suggest that CPAM (at least type 1 CCAM)
may predispose to malignant transformation. But the incidence of malignant transformation is
still difficult to estimate: on systematic histological analyzes, it was evaluated up to 4% in
children’s CPAM and 20% in adults’ CPAM [25, 26] and such differences maybe reflecting
the evolution with time of congenital cystic malformations [27, 28].
Solid Lung Malformations
Solid malformation corresponded to bronchopulmonary sequestration (BPS). Two sub-

types are described (i) intralobar sequestrations that share common visceral pleura with the
normal lung and (ii) extralobar sequestrations that have their pleura. Twenty percent of
prenatally detected BPS are extralobar sequestrations (Figure 3). Over 90% of sequestrations
are found in the thorax, and less than 10% are located in the abdomen (all extralobar forms),
typically described in the left suprarenal area. Because of this particular location, a
differential diagnosis such as neuroblastoma, adrenal hematoma, hemo-lymphangioma and

teratoma has to be excluded [29]. BPS are characterized by a systemic vasculature that most
commonly arises from the descending thoracic aorta, less frequently from the upper
abdominal aorta (or celiac and splenic branches) and in rare cases from intercostal, subclavian
or coronary arteries [30].
In the post-natal period, symptoms are common to other malformations: respiratory
discomfort and infection but more specifically although exceptional, vascular complications,
such as bleeding intra-lesional or heart failure [31, 32]. Diagnosis appears earlier in extra
lobar sequestrations as 60% are recognized in the first 6 months of life, whereas intralobar
sequestrations are most often diagnosed after the age of 2 years [33]. The evolution of
sequestrations may also be to the complete disappearance and regressions at the pre- and the
post-natal period, presumably by spontaneous thrombosis of the vascular pedicle, have been
reported and documented, although histological data are then not available to confirm the
diagnosis. Expectance can then be proposed for BPS, especially when the size of the lesion is
small and if it is an extralobar form [16]. Percutaneous embolization could then be a good
therapeutic alternative because of less morbidity, but it is reserved for BPS with a single
artery and in the absence of associated cystic structures [34, 35].
Figure 3. CT Scan. Intralobar bronchopulmonary sequestration of the left lung with a large systemic
artery. In this case, the anomaly of the lung parenchyma combined a dense peripheral zone and a part of
mild distension around the feeding vessel but no cystic component.
Emphysema
Emphysema is typically diagnosed in the neonatal period due to respiratory distress, an

acute or progressive effect by trapping and overinflation of the segment or the pulmonary
lobe [36] (Figure 4). Although bronchus malformations were described at histological
analysis in only half of the cases, emphysema is attributed to abnormal bronchial cartilage
without malformations of the lung parenchyma but secondary alveolar overdistension [37].
Functional respiratory signs, with or without associated infection, are also common
symptoms at diagnosis after the neonatal period. They occur in the majority of cases within
the first 6 months of life [38]. In older children, it is sometimes difficult to make the
difference between late symptomatic congenital lobar emphysema and emphysematous
lesions secondary to extrinsic bronchial compression or post-infectious lung damage [39, 40].
Difficulty in breathing may also remain moderate with a favourable evolution and a
regression of the lesions, provided there is not a local mechanical cause. Clinical
improvements are associated to changes in ventilatory parameters [41].
Figure 4. CT Scan. Left lobar emphysema of the upper lobe.
MANAGEMENT AND TREATMENT

The principles of the surgery in the newborns are identical to those of the older children
but the thoracoscopic approach, even if feasible as it was assessed by numerous publications,
is difficult because of the limited space in the thorax at this age. As infants remain
asymptomatic in the majority of cases, it allows an initial follow-up and avoids intervention
and general anaesthesia in the first months of life and consensus seems to be emerging for
intervention after 6 months [1, 16].
At birth, the chest x-ray is performed before discharge from hospital to assess the impact
of the malformation once the lung is ventilated. CT scan or MRI, realised between 2 and 3
months of life, can precisely evaluate the morphological characteristics and the local impact
of pulmonary malformation. The early term for this imaging, in the absence of planed
surgery, has the advantage to still be performed at this age without general anaesthesia that
will not be the case in the babies older than 3 months. In our experience, in the aim to limit
irradiation, MRI provides a good pulmonary, mediastinal or vascular evaluation but failed to
give a good evaluation of cystic components, and can thus be completed by a low doses
scanner. This evaluation allows to define precisely the type of malformation: strictly cystic
(CPAM), entirely solid malformation (BPS) or cystic and solid components (i.e., hybrid
malformation) in the case of prenatal malformation with systemic pedicle; CPAM, BPS,
emphysema or bronchial atresia in the case of prenatal hyperechogenic malformations.
The surgical resection of congenital lung malformations is consensual when they become
symptomatic: dyspnea, tachypnea, acute respiratory distress, discomfort in food intake ...
[1,16]. For asymptomatic malformations (prenatally diagnosed), the main argument of the
wait and see attitude is the possible disappearance of lesions over time. But, also
disappearance was documented for BPS [42], there were no clear evidence of such evolution
in cystic malformations.
The second argument for the expectative attitude is the poor knowledge of the natural
history of congenital lung malformations, particularly about delayed symptoms. Lobar
emphysema may remain asymptomatic with little risk of major complications, and clinical
and morphological improvements were even shown, justifying a long-term surveillance [41].
But even in the absence of functional symptoms, resection of cystic lesions is proposed.
Although the evaluation of secondary infection is variable (from 10 to 85%), they were
associated to higher per-operative complications with longer operative-time, increased blood
loss or higher rate of conversion when performed thoracoscopically [43]. Post-operative
morbidity was also increased with longer lengths of stay and more frequent postoperative
complications (pulmonary fistulas, secondary haemorrhage, reoperation, ...) [44].
Early surgery is also recommended in cystic malformations because of the risk of
malignant transformations [23, 25]. As CPAM and pulmonary pleuroblastoma (PPB) share
similar clinical and radiological features, pathologic examination is the only means to
establish the final diagnosis [45]. In their retrospective analysis of 51 patients with type I
PPB, Hill et al., found that type I PPB was never suspected preoperatively despite the high
rate of pneumothorax at presentation, and/or multiple lesions in the lung [46]. Thus, only
systematic surgical removal of congenital cystic lung lesions, associated with a thorough
pathologic study by a trained team, can formally exclude the diagnosis of PPB.
Cystic malformations with systemic vascularisation or predominantly solid lesion but
containing cystic structures, now defined as hybrid malformations, are thus to be considered
for surgical resection.
The optimal period for lung resection seems to be between 6 months and 2 years. Surgery
in the first six months for asymptomatic forms seems not necessary nor useful regarding the
increased anaesthetic risk in the neonatal period compared to the incidence / consequences of
complications. Moreover, the growth and development of the chest offer better technical
conditions for thoracoscopic surgery after the first year. If resections are decided,
interventions should be realised before the onset of complications, considering the data on
increased morbidity, i.e. in the first 3 years.
Progress in the miniaturization of equipment offers instruments of 3 or 5 mm diameters
and 5 mm optics, perfectly suited for the thorax of the infants. Lung resections, either
thoraco-assisted or entirely thoracoscopic are possible in the vast majority of cases, with a
profit (vs thoracotomy) on postoperative pain and costal healing [45]. In children, their low
weight does not allow the use of a double-lumen endotracheal tube for transient pulmonary
exclusion work, and the pulmonary exposure is more difficult than in adults. When the lesion
is in the left lung, right selective intubation can be performed, if tolerated. When the lesion is
on the right lung, a good collaboration with the anaesthesia team, providing a high frequency
and low volume ventilation, is the key of theses surgery. New bronchial blockers are in
evaluation and may be the solution, but they are still difficult to place.
CONCLUSION
The surgical resection of lung congenital malformations is consensual when
symptomatic. European Task Force stated that unoperated stable cystic lesions should be
followed up into adulthood, but the optimal frequency of repeated evaluations is not given.
Such follow-up, which will be justified to families by a risk of malignancy, will certainly
generate an important stress. If resection is decided, intervention should be realised before the
onset of complications, considering the data on increased morbidity. The optimal period for
lung resection of congenital cystic malformation diagnosed prenatally seems thus to be
between 6 months and 2 years.
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Chapter 13
GASTROESOPHAGEAL REFLUX DISEASE (GERD)
Samer Bostame1, MD, Habib Bouthour2, MD,

Taieb Chouikh3, MD, and Nejib Kaabar4, MD, PhD
1
Pediatric Surgery Department, Habib Thameur Hospital, Tunis Tunisia,
2
Tunis School of Medecine University El Manar,
Pediatric Surgery Department, Habib Thameur Hospital, Tunis Tunisia
3
Tunis School of Medecine University El Manar Tunisia
Hôpital Universitaire Necker-Enfants malades Hospital, 149 rue de Sevres, 75015 Paris,
France Hopital Robert Ballanger Bd Robert Ballanger 936020, Aulnay sous bois France
4
Tunis School of Medecine University El Manar,
ABSTRACT
GERD is defined as the pathologic effects of involuntary passage of gastric contents
into the esophagus. Ultimately, the pathophysiologic alteration that is responsible for the
development of GERD is incompetence of the antireflux barriers that exist between the
lower esophagus and the stomach [1, 2].
In adults, the consequence of this refluxate in the esophagus is primarily limited to
erosive esophagitis, esophageal stricture, and Barrett’s esophagitis. In children, its
detrimental effects are much broader. Also, associated physiologic, anatomic, and
developmental abnormalities co-exist in children that make GERD and its consequences
much more complex [1].
Many children with GERD have significant neurologic impairment. These children
can have increased spasticity with retching and related increased abdominal pressures.
Sometimes, a hiatal hernia develops, further predisposing to GERD. Congenital
anomalies such as esophageal atresia (EA) with or without tracheoesophageal fistula
(TEF), duodenal and proximal small bowel atresias, congenital diaphragmatic hernia
(CDH), and gastroschisis/omphalocele all predispose to the development of GERD [2].
138 Samer Bostame, Habib Bouthour, Taieb Chouikh et al.
Keywords: gastroesophageal reflux, malposition, hiatal hernia, respiratory symptoms,

management, surgery
BARRIERS AGAINST GERD

The Lower Esophageal Sphincter (LES)
The most important factor for preventing reflux of gastric contents into the esophagus is
the lower esophageal sphincter (LES) [3]. The LES lies partially in the chest and partially in
the abdomen. This positioning is important for the normal barrier function against GER.
Esophageal manometry can identify this transition from the thoracic to the abdominal
esophagus. The LES is an imperfect valve that creates a pressure gradient in the distal
esophagus. The ability to prevent GER is directly proportional to the LES pressure and its
length [4]. Malposition of the LES, which can occur with a hiatal hernia or abnormal
development, results in loss of the protective function of the LES, resulting in GER.
Inappropriate LES relaxations, referred to as transient LES relaxations, have been shown to
occur sporadically, unassociated with the swallowing mechanism. Rather, the majority of
reflux episodes occurred during transient LES relaxations, and no reflux episodes were
identified during LES relaxation after swallowing with normal peristaltic sequence. There
continues to be growing support that these transient LES relaxations are the primary
mechanism for GER.
The Intra-Abdominal Length of the Esophagus
Another barrier to the development of symptomatic GER is the intra-abdominal length of

the esophagus. Although no absolute effective intra-abdominal esophageal length has been
identified that prevents GER, correlation between several lengths and GER have been
identified. In one report, an intra-abdominal length of 3 to 4.5 cm in adults with normal
abdominal pressure provided LES competency 100% of the time. A length of 3 cm was
sufficient in preventing reflux in 64% of individuals, whereas less than 1 cm of intra-
abdominal esophagus resulted in reflux in 81% of patients [5].
The Angle of His
A third barrier to reflux is the angle of His, which is the angle at which the esophagus
enters the stomach. The usual orientation is that of an acute angle, which creates a flap valve
at the gastroesophageal junction. Although the actual functional component of the angle of
His is not well known, it has been shown to provide resistance to GER [6].
Gastroesophageal Reflux Disease (GERD) 139
The Esophageal Clearance
Once the barrier to GER has been overcome, mechanisms for esophageal clearance
become important in preventing damage associated with exposure of the esophageal mucosa
to the gastric refluxate [7]. The primary mechanism for esophageal clearance remains
esophageal motility. However, gravity and saliva contribute to the ability of the esophagus to
clear the refluxate. There are three types of esophageal contractions: primary, secondary, and
tertiary. Primary contraction waves are initiated with swallowing and are responsible for the
clearance of refluxed contents in 80% to 90% of reflux episodes [8]. Secondary waves occur
when material is refluxed into the esophagus and clearance is required, especially when the
reflux occurs during sleep. Tertiary waves have nothing to do with esophageal clearance and
are sporadic, non-propagating contractions. When impaired esophageal motility is present as
a result of abnormal smooth muscle function, impaired vagal stimulation, or obstruction,
refluxed gastric contents are not moved into the stomach in a timely manner. This prolonged
exposure can lead to esophageal mucosal injury and can potentiate the motility disturbance
due to vagal and/or smooth muscle inflammation or injury.
DIAGNOSIS
There are few objective studies that compare the value of the various diagnostic
techniques used for the diagnosis of GER in children. Tests for GER are individually useful
in documenting different aspects of GER and are valuable only when used in the appropriate
clinical context.
History and Physical Examination
The history and physical examination are the most important components of the
evaluation of an infant or child with possible GERD. Documentation of the growth rate and
identification of the primary symptoms, such as failure to thrive, primary aspiration, recurrent
coughing, reactive airways disease, stridor, apnea, recurrent pneumonia, irritability,
heartburn, abdominal pain, and dysphagia, are helpful in guiding the remainder of the
patient's workup [9].
Upper Gastrointestinal Contrast Series
An upper gastrointestinal contrast series is neither specific nor sensitive for the diagnosis
of GER. It does, however, provide a detailed road map of the patient’s anatomy to-rule out
other causes of vomiting. Problems such malrotation, partial duodenal outlet obstruction,
hiatal hernia, and esophageal stricture are readily seen [10]
Esophageal pH Monitoring
Esophageal pH monitoring measures the duration and frequency of acid reflux episodes.
It is most useful if used in conjunction with regular daily activities such as eating and
sleeping. The presence of symptoms should be noted in parallel with the pH probe record. It
should be remembered that acid reflux is more common in the first year of life and that adult
indices are not applicable to these patients. In children, the upper limit of normal is a pH
below 4 less than 5.5% of the time [11]. In infants younger than 1 year, the normal value
increases to 12% [11]. PH probe monitoring does not detect nonacid reflux episodes. In some
studies, the presence of duodenal contents in the esophagus has been confirmed by
monitoring for the presence of bilirubin in the gastroesophageal refluxate [12]. Multiple
intraluminal electrical impedance technologies with the capacity to detect all types of reflux
(acid, nonacid, liquid, and air) have been developed over the last 2 decades. This technique is
useful for investigating nonacid reflux [13].
Endoscopy
Endoscopy and biopsy are useful for determining the presence and the degree of
esophagitis and the presence of other problems such as strictures, webs, or infections.
Nuclear Scintigraphy
In nuclear scintigraphy, technetium-labeled formula or food is orally ingested, and

patients are scanned for evidence of GER or aspiration. This technology can demonstrate
nonacid reflux and can provide information relative to gastric emptying. Lack of standardized
techniques and the short duration of the study limit the value of this test [14].
Esophageal Manometry
Esophageal manometry studies evaluate the activity of the lower and upper esophageal
sphincters and monitor the organized contractile activity of the esophagus. The technique is
not used for the diagnosis of GER, but helps the clinician better understand the underlying
pathophysiology [15].
EVALUATION OF PEDIATRIC PATIENTS WITH SUSPECTED

GASTROESOPHAGEAL REFLUX DISEASE
The appropriate steps in the evaluation of a child suspected of having GER are
controversial. The workup must include a careful history and physical examination. An upper
gastrointestinal study to look for anatomic abnormalities, a 24hour pH probe monitoring
study, or an impedance study and, in some cases, endoscopy with biopsy of the distal
esophageal mucosa are performed as a part of the workup.
TREATMENT
Conservative Therapy
Infants and children who have symptoms of GER can benefit from changes in lifestyle.
Smaller and frequent feeding is encouraged in babies instead of larger feedings at infrequent
intervals. Thickened feedings may be helpful in those with poor weight gain, and there is
evidence to support a 1- to 2-week trial of hypoallergenic formula in formula-fed babies with
vomiting. Positioning therapy is a widely adopted, but controversial part of antireflux therapy
[16]. Although esophageal pH monitoring has demonstrated that infants have significantly
less GER in the prone position than in the supine position, prone positioning has been
associated with a higher rate of sudden infant death syndrome (SIDS) [17].
For older children, recommended conservative treatment includes weight loss if the
patient is overweight and avoidance of large meals, caffeine, chocolate, and spicy foods.
Medical Therapy
The goals of antireflux medical treatment are to control symptoms, prevent

complications, and facilitate the healing of esophagitis. Acid suppressants and prokinetic
agents are the two major pharmacotherapies that can be used to prevent the symptoms and
damage caused by GER.
Histamine H2 Receptor An Tagonis ts

H2RAs decrease acid secretion by inhibiting the H2 receptor at the parietal cell of the
stomach. Ranitidine at an oral dose of 5.0 mg/kg has been shown to control gastric pH for 9
to 10 hours in infants [18].
Proton Pump Inhibitors

PPIs bond and deactivate Hf, K+-ATPase, or proton pumps, by crossing parietal cell
membranes and accumulating in secretory canaliculi. These drugs are most effective if they
are administered half an hour before a meal. The drug most often reported is omeprazole at
dosages of 0.5 to 3.3 mg/kg daily [19].
Antacids and Surface Agents

Antacids neutralize gastric acid and are preferred for the short-term relief of GER
symptoms such as heartburn and esophagitis. Studies have shown that treatment with
aluminum- containing antacids increases plasma aluminum levels in infants. Because other
safe alternatives are available, chronic use is not recommended. Sucralfate is a surface agent
that adheres to damaged mucosal lesions on the esophagus. However, there are not enough
data to determine the safety and efficacy of sucralfate in children [20].
Prokinetic Agents
In recent studies, TLESRs are considered the most important component of GER.
Prokinetic agents increase LES pressure, enhance esophageal peristalsis, and accelerate
gastric emptying. Cisapride is a mixed serotonergic agent that reduces esophageal acid
exposure. Studies have shown that cisapride improves symptom scores, esophagitis, and
pulmonary function in patients with GER. However, it has also been noted to potentially
cause serious cardiac arrhythmias and has been withdrawn from the market in many countries
[21].
Erythromycin
Reports have suggested that erythromycin has prokinetic effects on the gastrointestinal
tract at doses lower than antimicrobial levels, but no randomized controlled trials have been
performed [22].
Operative Treatment
Operative management usually follows failed medical management for growth failure
(failure to thrive or gain weight appropriately), most respiratory symptoms, and other
symptoms such as pain and esophagitis.
However, in selected circumstances, it may be best to proceed with fundoplication
without a trial of medical therapy. These selective situations include the previously mentioned
patient in an intensive care unit who requires gastrostomy and the neurologically impaired
patient with a similar need for gastrostomy and concern for aspiration. This latter scenario is
commonly seen in infants and children, and the decision for or against fundoplication at the
time of gastrostomy should be individualized.
Regarding a stricture, dilation can be performed at the time of fundoplication. Subsequent
dilations may be needed in severe cases. Finally, children with a known hiatal hernia and
symptomatic GER are not likely to respond to medical management. Initial fundoplication is
a reasonable choice in these patients.
Nissen Fundoplication
The operation is best performed through an upper midline or left subcostal incision. The
left lobe of the liver is mobilized, folded on itself, and retracted to the patient’s right. Three or
more upper short gastric vessels are divided to mobilize the fundus of the stomach. The
anterior peritoneum over the gastroesophageal junction is incised transversely. The distal end
of the esophagus is mobilized circumferentially. Dissection is continued up into the thorax
when needed to achieve at least a 3.0-cm length of the intra-abdominal portion of the
esophagus.
The vagus nerves are mobilized with the esophagus. A Penrose drain is often looped
around the esophagus and vagi to help mobilize the distal esophageal segment. The
diaphragmatic crura are repaired posteriorly with nonabsorbable suture. The fundus is then
fitted around the esophagus for 360 degrees. Usually, three to four interrupted sutures are
placed in the fundus and esophagus to complete the wrap. Some surgeons also place four to
six sutures to attach the esophagus to the crura circumferentially above the wrap to prevent
herniation of the wrap or other intra-abdominal contents into the chest. The wrap is performed
over an appropriately sized bougie within the esophagus to prevent the creation of a tight
wrap. Additionally, the fundoplication should be loose enough to allow a blunt-tipped clamp
to pass between the fundal wrap and the esophagus containing the bougie [23].
Toupet Fundoplication
In the Toupet technique, the esophagus is dissected in the same manner as for a Nissen
fundoplication. The crura are approximated posteriorly to snug the hiatus. The fundus is
mobilized either with or without division of the short gastric vessels. The fundus is then
pulled through the retroesophageal space and secured to the left and right crura with
interrupted sutures. The most cephalad sutures of the wrap incorporate all three structures:
fundus, crus, and esophagus. The wrap is anchored posteriorly to the crura with two or three
sutures [24].
Laparoscopic Nissen Fundoplication

Although all the aforementioned open techniques have been performed laparoscopically,
the most commonly performed laparoscopic technique is the Nissen fundoplication. The
laparoscopic approach has the technical advantages of enhanced visualization and
magnification and is associated with less postoperative pain. For these reasons, laparoscopic
fundoplication has become the treatment of choice in children with pathologic GER over the
last decade. Safe and effective laparoscopic procedures in the treatment of GER in infants and
children require advanced laparoscopic skills, as well as sophisticated electronic equipment
and specialized laparoscopic instruments.
Complications of Antireflux Procedures

Complications may be classified according to occurrence during surgery, early after
surgery, or late. Complications during surgery include bleeding from the short gastric vessels,
the spleen, or an aberrant left hepatic artery [25].
Pneumothorax may occur with either open or laparoscopic techniques.
Conversion rates from laparoscopic to open surgery should be less than 3% for primary
operations [25]. Many fundoplication patients experience early dysphagia when the wrap
becomes edematous several days after completion of the surgical procedure.
This dysphagia can be avoided by keeping the wrap loose and floppy, dividing the upper
short gastric vessels, and placing the patient on a soft diet for 2 to 3 weeks postoperatively
[26]. A tight hiatus can likewise cause dysphagia and must be carefully avoided. It is also
important to not make the wrap too long. Patients with severe esophageal dysmotility can
report dysphagia even with a loose wrap. Prokinetic agents may be helpful in treating this
group of patients.
Recurrent reflux is a common complication after fundoplication in children [27]. It is
often related to postoperative retching and gagging. It is important to recognize that
postfundoplication retching is most often initiated by central nervous system abnormalities
and is not primarily a gastrointestinal symptom. The most common cause of postoperative
gagging is overfeeding of the patient.
Other postfundoplication complications include gas bloating syndrome and an inability to
vomit. Most patients with a floppy Nissen fundoplication can burp and vomit within 6 months
of the operative procedure. True gas-bloating syndrome is uncommon in these patients. It is

usually seen in neurologically impaired patients who are aerophagic [28].
Dumping syndrome can also follow the formation of an antireflux wrap. The
fundoplication streamlines the stomach and decreases the size and reservoir function of the
stomach. The addition of a pyloroplasty is associated with an even higher incidence of
dumping. Patients with sweating and diarrhea after feeding should be managed by restriction
of food intake, reduction in carbohydrate intake, and drip feedings.’” Small bowel obstruction
is another complication that is relatively rare after laparoscopic fundoplication, but not
uncommon in patients after open fundoplication. A rate of 2.6% has been reported after open
surgery [27].
SUMMARY
GER is a common disorder in children and often requires surgical correction. GER in
infants and children is more complex than adult GER. Failure of medical management and an
inability to wean from antireflux medications are the most common indications for the
surgical treatment of reflux. A complete-wrap fundoplication appears to have better outcomes
than partial-wrap fundoplication, although this contention is controversial.
Postoperative retching and recurrent GER are the most common and vexing
complications of antireflux surgery
REFERENCES
[1] Rudolph, CD; Mazur, LJ; Liptak, GS; et al. Guidelines for evaluation and treatment of
gastroesophageal reflux in infants and children. Recommendations of the North
American Society for Pediatric Gastroenterology and Nutrition. J Pediatr Gatroenterol
Nutr, 2001, 32(Suppl), Sl.
[2] Vandenplas, Y; Hassall, E. Mechanisms of gastroesophageal reflux and
gastroesophageal reflux disease. J Pediatr Gastroenterol Nutr, 2002, 35, 119.
[3] Cohen, S; Harris, LD. Does hiatus hernia affect competence of the gastroesophageal
sphincter? N Engl J Med, 1971, 284, 1053.
[4] Richter, J. Do we know the cause of reflux disease? Eur J Gastroenterol Hepatol, 1999,
11 (Suppl), S3.
[5] Bonavina, L; Evander, A; DeMeester, TR; et al. Length of the distal esophageal
sphincter and competency of the cardia. Am J Surg, 1986, 151, 25-34.
[6] Bardaji, C; Boix-Ochoa, J. Contribution of the His angle to the gastroesophageal
antireflux mechanism. Pediatr Surg Int, 1986, 1, 172.
[7] Helm, JF. Esophageal acid clearance. J Clin Gastroenterol, 1986, 8, 5.
[8] Cadiot, G; Bruhat, A; Rigaud, D; et al. Multivariate analysis of pathophysiological
factors in reflux oesophagitis. Gut, 1997, 40, 167.
[10] Chen, MY; Ott, DJ; Sinclair, JW; et al. Gastroesophageal reflux disease: Correlation of
esophageal pH testing and radiographic findings. Radiology, 1992, 185, 483.
[11] Boix-Ochoa, J; Lafuenta, JM; Gil-Vernet, JM. Twenty-four hour esophageal pH
monitoring in gastroesophageal reflux. J Pediatr Surg, 1980, 15, 74.
[12] Belaji, NS; Blom, D; DeMeester, TR; et al. Redefining gastroesophageal reflux (GER).
Surg Endosc, 2003, 17, 1380.
[13] Sondheimer, J. Expanding the definition of GE reflux. J Pediatr Gastroenterol Nutr,
2002, 34, 511.
[14] Ozcan, Z; Ozcan, C; Erinc, R; et al. Scintigraphy in the detection of gastro-oesophageal
reflux in children with caustic oesophageal burns. A comparative study with
radiography and 24h pH monitoring. Pediatr Radiol, 2001, 31, 737.
[15] Godoy, J; Tovar, JA; Vicente, Y; et al. Esophageal motor dysfunction persists in
children after surgical cure of reflux: An ambulatory manometric study. J Pediatr Surg,
2001, 36, 1405.
[16] Gremse, DA. Gastroesophageal reflux disease in children: An overview of
pathophysiology, diagnosis, and treatment. J Pediatr Gastroenterol Nutr, 2002,
35(Suppl), S297.
[17] Ewer, AK; James, ME; Tobin, JM. Prone and left lateral positioning reduce gastro-
oesophageal reflux in preterm infants. Arch Dis Child Fetal Neonatal Ed, 1999, 81,
F201.
[18] Mallet, E; Mouterede, O; Dubois, F; et al. use of ranitidine in young infants with gastro-
oesophageal reflux. Eur J Clin Pharmacol, 1989, 36, 641
[19] Colletti, RB; Di Lorenzo, C. Overview of pediatric gastroesophageal reflux disease and
proton pump inhibitor therapy. J Pediatr Gastroenterol Nutr, 2003, 37(Suppl), S7.
[21] Augood, C; MacLennan, S; Gilbert, R; et al. Cisapride treatment for gastro-oesophageal
reflux in children. Cochrane Database Syst Rev (4), CD002300, 2003.
[22] Curry, JI; Lander, TD; Stringer, MD. Erythromycin as prokinetic agent in infants and
children. Aliment Pharmacol Ther, 2001, 15, 595.
[23] Fonkalsrud, EW. Nissen fundoplication for pediatric gastroesophageal reflux disease.
Semin Pediatr Surg, 1998, 7, 110.
[24] Weber, TR. Toupet fundoplication for gastroesophageal reflux disease. Semin Pediatr
Surg, 1998, 7, 121.
[25] Watson, DI; de Beaux, AC. Complications of laparoscopic antireflux surgery. Surg
Endosc, 2001, 15, 344.
[26] Hunter, JG; Swanstrom, L; Waring, JP. Dysphagia after laparoscopic antireflux
surgery: The impact of operative technique. Ann Surg, 1996, 224, 51.
[27] Fonkalsrud, EW; Ashcraft, KW; Coran, AG; et al. Surgical treatment of
gastroesophageal reflux in children: A combined hospital study of 7467 patients.
Pediatrics, 1998, 101, 419.
[28] Borowitz, SM; Satphen, JL. Recurrent vomiting and persistent gastroesophageal reflux
caused by unrecognized constipation. Clin Pediatr (Phila), 2004, 43, 461.
Chapter 14
ESOPHAGEAL ACHALASIA
Chaima Mrad1, MD, Sofien Ghorbel2, MD, PhD

and Taieb Chouikh2,3,4,, MD
1
2
3
Department of Paediatric Surgery, Hôpital Universitaire Necker-Enfants Malades
Hospital, Paris, France
4
Hopital Robert Ballanger, Aulnay sous Bois, France
ABSTRACT
Achalasia is a motility disorder of the esophagus; dysphasia is the most common
sign. The diagnosis is usually suspected on clinical history or in cases of associated
malformations and confirmed by the study of the esophagus motility. The management
aims to relief the esophagus obstacle and to allow an appropriate oral feeding.
Keywords: dysphagia, esophageal motility disorder, esophageal manometry, Heller myotomy
INTRODUCTION
Achalasia is a primary and progressive motility disorder of the esophagus characterized
by:
 The absence of normal esophageal peristalsis

 An increased basal resting pressure and
 The failure of complete relaxation of the lower oesophageal sphincter [1].

Corresponding Author Address: Tunis School of Medecine University El Manar, Tunisia, Department of
Paediatric Surgery, Hôpital Universitaire Necker-Enfants Malades Hospital, 149 rue de Sevres, 75015 Paris,
France. Hopital Robert Ballanger, Bd. Robert Ballanger 936020, Aulnay sous Bois, France. Email:
[email protected].
EPIDEMIOLOGY
Esophageal achalasia is a rare disease particularly regarding the pediatric population
since less than 5% of patients have symptoms when they are below 15 years of age [2]. The
estimated incidence of this entity is 0.11 per 100,000 children [3]. An epidemiological survey
in the United Kingdom showed an incidence of 0.18/100,000 children/year [4], and there is
no racial or gender predilection.
ETIOPATHOLOGY [5]
The cause of achalasia is unknown, but the origin is likely to be multifactorial (genetic
factors, autoimmunity, environmental influences). There is a reduction of the number of the
ganglion cells of the myenteric plexus of the esophageal body and the lower esophageal
sphincter in case of esophageal achalasia. During the initial stage of the disease, the
neurodegenerative process affects the inhibitory neurons and their neurotransmitter: The nitric
oxide, which is a non-adrenergic-non-cholinergic neurotransmitter of smooth muscle
relaxation. The lack of inhibitory neurotransmitter leads to high-amplitude propagative
contractions of the esophageal body and non-relaxing of the lower esophageal sphincter. As
the disease gradually progresses, cholinergic neurons are affected, leading to very low
amplitude contractions of the esophagus.
DIAGNOSIS
Clinical Presentation
Vomiting and dysphagia are the commonest initial symptoms. Children with achalasia
complain of a progressive dysphagia of liquid and solid food, and regurgitation of aliments
retained in the esophagus. Vomiting occurs more frequently in infants and young children
whereas dysphagia is commoner in older children.
Loss of weight is very common and they often present with respiratory symptoms like
nocturnal cough or repeated pneumonia due to frequent micro aspiration.
The average of symptoms’ duration prior to the diagnosis ranges from 7 to 31 months in
literature [6, 7].
Achalasia may be associated with Allgrove syndrome or triple, a syndrome, which
is a rare autosomal recessive disorder characterized by achalasia, alacrima, and
adrenocorticotropic hormone (ACTH) insensitivity. Other associated signs are a variety of
neurological symptoms and skin changes. Clinical signs of ACTH insensitivity become
symptomatic usually during the first 10 years of life. Alacrima is related to dysfunction of the
parasympathetic part of the nervous system. This syndrome is related to a mutation in the
AAAS gene on chromosome 12q13, which encodes a protein called ALADIN [11].
Esophageal Achalasia 149
Imaging
Chest X-Ray
Chest X-ray may show an air-fluid level in the esophagus; there may be a soft tissue
shadow in the mediastinum on the left hemi thorax corresponding to a dilated lower
oesophagus (Figures 1 and 2), and sometimes pneumonic changes.
Esophageal Barium Swallow

Esophageal barium swallow shows an enlarged esophagus (mega esophagus) which
contains stagnant fluid above the barium column. There is a marked a peristalsis and the
esophagogastric junction is filiform, adopting a classical “bird’s beak” shape, or a rat-tail
deformity (Figure 3). The contrast progresses into the stomach after a long time, and most of
it is retained in the esophagus for hours. A barium swallow may reveal three different types of
distal esophageal morphology: spindle, flask, or sigmoid. Moreover, the degree of esophageal
dilatation is determined and classified according to the maximum diameter of the esophageal
lumen into three grades: Grade I, <3.5 cm; Grade II, 3.5-6 cm; and Grade III, >6 cm [8].
Figure 1. Enlargement of the mediastinum.
Figure 2. Dilated esophagus with air-fluid level.

Figure 3. The bird’s peak shape on barium swallow [6].
Radionuclide Scintigraphy
Radionuclide scintigraphy may depict the lack of progression of the esophageal content
and allows more prolonged observation with less irradiation compared with the barium
swallow, but it is less informative of the shape of the distal esophagus (Figure 4).
Endoscopy
Endoscopy confirms a dilated esophagus which funnels smoothly towards a narrowed the
lower esophageal sphincter. Retained food or esophagitis may be noted in the esophagus.
Although the lower sphincter is closed, it provides little resistance to the advancing
endoscope.
Esophageal Manometry
Esophageal manometry is the “gold standard” for the diagnosis of achalasia.
Diagnostic features include a failure of relaxation of lower sphincter on swallowing and
absence of peristalsis in the body of the esophagus.
Features that are characteristic but not required for the diagnosis include elevated resting
lower Esophageal sphincter (LES) pressure (>45 mmHg), and resting pressure in the
esophageal body exceeding that in the stomach.
MANAGEMENT
The Medical Management
It includes the use of long-acting nitrates such as isosorbide dinitrate, and calcium
channel blockers (i.e., nifedipine) as smooth muscle relaxing agents. But, the chronic use of
Nifedipine in achalasia has been disappointing due to lack of durable response, substantial
side effects, and compliance issues.
Figure 4. Radionuclide esophageal transit study (A) Summed image of whole esophagus. (B) Time-
activity curve shows marked retention of radioactivity in the esophagus [9].
The Botulinum Toxin
This toxin is able to inhibit the release of acetylcholine from presynaptic nerve terminals.
The toxin binds to the presynaptic nerve terminals and produces neuromuscular blockade and
smooth muscle relaxation. This will allow for decreased LES resting tone and an
improvement of esophageal emptying.
The botulinum toxin is injected radially in four quadrants at the low esophageal sphincter
(total of 80 to 100 units of toxin). This intrasphincteric injection may produce an initial
favorable response, but the majority of patients will have relatively prompt recurrence of their
symptoms.
Esophageal Dilatation
The aim is to forcefully distend the dysfunctional low esophageal sphincter and make it
incompetent, allowing for a reduction in the resting pressure and improvement in esophageal
emptying. Pneumatic esophageal dilatation, guided by endoscopy or fluoroscopy is realized
under general anesthesia. Approximately 60% to 83% of selected patients have a favorable
response (symptom relief), while 20% will require repeat treatment for recurrent symptoms.
The esophageal perforation rate appears to be less than 3% in literature [13].
HELLER’S PROCEDURE (ESOPHAGO-CARDIOMYOTOMY)

This surgical approach remains the main treatment of esophageal achalasia.. It can be
performed via the abdomen or thorax, either as an open procedure or by the minimally
invasive approach.
A superficial incision is made and the thickened esophageal muscle is divided with
scissors and separated by blunt dissection until the submucosal plane is reached (Figure 5).
Care must be taken to avoid mucosal perforation.
Figure 5. Heller Cardiomyotomy.
Figure 6 [14]. Dor Fundoplication.
Myotomy is continued proximally and distally until all constricting muscles have been
separated and the mucosa is seen bulging (Figure 6). Myotomy extends for 4-6 cm above, and
0.5-1 cm below the cardio-oesophgeal junction. Mucosal perforation is tested by insufflation

of the esophagus; if present, it should be repaired by fine suture.
To avoid the long-term complication of gastro-esophageal reflux after myotomy, many
surgeons recommend a concomitant fundoplication. The fundoplication should be loose to
avoid dysphagia. A posterior 180° (Toupet) fundoplication or 360° (Nissen) can be
performed, alternatively, an anterior 180° (Dor) fundoplication (Figure 6) is realized.
According to the literature, Heller myotomy is considered as the treatment of choice for
children, as it provides more durable outcomes in comparison to pneumatic dilations in long-
term follow-up [15-16].
PERORAL ENDOSCOPIC MYOTOMY

Recently, the development of new minimally invasive techniques introduced the Peroral
endoscopic myotomy (POEM) described by Inoue et al. in 2010 [17].
An upper endoscopy is performed using a high-definition endoscope with carbon dioxide
insufflations. The esophageal mucosa is cut on the anterior wall approximately 10-12 cm
above the esophageal gastric junction. Then the esophageal submucosa is dissected and a long
tunnel is created in the esophageal submucosa extending from the mucosal incision to 3 cm
along the anterior gastric wall. The esophageal muscular layer is exposed and cut through the
submucosal tunnel. The myotomy includes the circular bundles of the muscular layer and
extends for 2-3cm up the gastric wall. At the end of the procedure, the mucosal incision is
closed using endoscopic clips. Few pediatric cases have been described to date with
encouraging outcome [18, 19].
CONCLUSION
Esophageal achalasia is a rare disease in children and its origin is generally
indeterminable. The sufferer’s symptomology may suggest gastroesophageal reflux,
Esophageal manometry combined with X-ray examination proves to be an effective
diagnostic method for achalasia. It is also effective in evaluating the result of treatment.
Heller's esophagocardiomyotomy is a treatment of choice for children with achalasia because
of its safety and long-term effective results after surgery.
REFERENCES
[1] Patient Care Committee and Society for Surgery of the Alimentary Tract. (2004).
Esophageal achalasia. SSAT patient care guidelines. Journal of gastrointestinal
surgery: official journal of the Society for Surgery of the Alimentary Tract, 8(3), 367.
[2] Berquist, W. E., Byrne, W. J., Ament, M. E., Fonkalsrud, E. W. and Euler, A. R.
(1983). Achalasia: diagnosis, management, and clinical course in 16 children.
Pediatrics, 71(5), 798-805.
[3] Mayberry, J. F. and Mayell, M. J. (1988f. Epidemiological study of achalasia in

children. Gut, 29(1), 90-93.
[4] Marlais, M., Fishman, J. R., Fell, J. M. E., Haddad, M. J. and Rawat, D. J. (2010). UK
incidence of achalasia: an 11-year national epidemiological study. Archives of disease
in childhood, archdischild171975.
[5] Saliakellis, E., Lindley, K. J. and Borrelli, O. (2016). Esophageal Achalasia. In
Textbook of Pediatric Gastroenterology, Hepatology and Nutrition (pp. 131-141).
Springer International Publishing.
[6] Zhang, Y., Xu, C. D., Zaouche, A. and Cai, W. (2009). Diagnosis and management of
esophageal achalasia in children: analysis of 13 cases. World Journal of Pediatrics,
5(1), 56-59.
[7] Lee, C. W., Kays, D. W., Chen, M. K. and Islam, S. (2010). Outcomes of treatment of
childhood achalasia. Journal of pediatric surgery, 45(6), 1173-1177.
[8] Omura, N., Kashiwagi, H., Ishibashi, Y., Yano, F., Tsuboi, K., Kawasaki, N. and
Yanaga, K. (2006). Laparoscopic Heller myotomy and Dor fundoplication for the
treatment of achalasia. Surgical Endoscopy and Other Interventional Techniques,
20(2), 210-213.
[9] Mariani, G., Boni, G., Barreca, M., Bellini, M., Fattori, B., AlSharif, A. and Marchi, S.
(2004). Radionuclide gastroesophageal motor studies. Journal of Nuclear Medicine,
45(6), 1004-1028.
[10] Galmiche, J. P., Clouse, R. E., Bálint, A., Cook, I. J., Kahrilas, P. J., Paterson, W. G.
and Smout, A. J. (2006). Functional esophageal disorders. Gastroenterology, 130(5),
1459-1465.
[11] Torab, F. C., Hamchou, M., Ionescu, G. and Al-Salem, A. H. (2012). Familial achalasia
in children. Pediatric surgery international, 28(12), 1229-1233.
[12] Tovar, J. A., Prieto, G., Molina, M. and Arana, J. (1998). Esophageal function in
achalasia: preoperative and postoperative manometric studies. Journal of pediatric
surgery, 33(6), 834-838.
[13] Stringer, M. D., Oldham, K. T. and Mouriquand, P. D. (Eds.). (2006). Pediatric surgery
and urology: long-term outcomes. Cambridge University Press.
[14] Farzaneh Banki. Digestive Health, Laparoscopic Heller Myotomy www.
memorialhermann.org/.
[15] Lee, C. W., Kays, D. W., Chen, M. K. and Islam, S. (2010). Outcomes of treatment of
childhood achalasia. Journal of pediatric surgery, 45(6), 1173-1177.
[16] Franklin, A. L., Petrosyan, M. and Kane, T. D. (2014). Childhood achalasia: A
comprehensive review of disease, diagnosis and therapeutic management. World
journal of gastrointestinal endoscopy, 6.
[17] Inoue, H., Minami, H., Kobayashi, Y., Sato, Y., Kaga, M., Suzuki, M. and Kudo, S.
(2010). Peroral endoscopic myotomy (POEM) for esophageal achalasia. Endoscopy,
42(04), 265-271.
[18] Familiari, P., Marchese, M., Gigante, G., Boskoski, I., Tringali, A., Perri, V. and
Costamagna, G. (2013). Peroral endoscopic myotomy for the treatment of achalasia in
children. Journal of pediatric gastroenterology and nutrition, 57(6), 794-797.
[19] Chen, W. F., Zhou, P. H., Li, Q. L., Yao, L. Q., Xu, M. D. and Zhong, Y. S. (2012).
Clinical impact of peroral endoscopic myotomy for achalasia of pediatric patients: a
prospective single center study. Endoscopy, 44(Suppl 1), A11.
Chapter 15
BILIARY ATRESIA
Soumaya Khadidja Khadir, MD

Centre Hospitalier Univeristaire le Kremlin Bicetre, Le Kremlin-Bicêtre, France;
ABSTRACT
Biliary atresia (BA) is a progressive obliterating inflammatory cholangiopathy,
affecting both intra and extra hepatic part of the biliary tree. If not treated, it will lead to
cirrhosis, liver failure and ultimately death in few months or years.
Keywords: biliary atresia, neonatal emergency, Kasai procedure, liver transplantation
DEFINITION
Biliary atresia (BA) is a progressive obliterating inflammatory cholangiopathy, affecting
both intra and extra hepatic part of the biliary tree. If not treated, it will lead to cirrhosis, liver
failure and ultimately death in few months or years.
HISTORY
The first described case of BA was in 1891 by Thomson in the Edinbourgh medical
journal [1]. In 1916 Holmes identified the correctable and non-correctable forms [2]. In 1928
Ladd published the first successful surgery for a correctable form of BA [3]. Gross in 1953
described the BA as the most common cause for neonatal obstructive jaundice [4].
In 1957 Kasai and All came with a revolution for the treatment of infants traditionally
considered to have non correctable forms of BA, with the introduction of the hepato-
portoenterostomy [5] which became the standard surgical treatment of BA since then.
156 Soumaya Khadidja Khadir
Liver transplant introduced by Starzl in 1963 became a practical option in the eighties for
children in whom the portoenterostomy was unsuccessful or whom developed chronic hepatic
failure. BA remains the first indication for liver transplant in the pediatric population.
EPIDEMIOLOGY
BA remains a rare pathology in Europe and North America with an average rate of
1/18000 birth [7]. It is significantly more frequent in (extreme orient) and Polynesia with the
highest reported incidence in Taiwan [8] with 1/5000 birth as well as French Polynesia.
PATHOGENESIS
BA is a progressive destruction of the biliary tree caused by an inflammatory process, it
is considered to be an acquired rather than a congenital anomaly [9], since the majority of
patients has normal meconium and colored stool at birth.
There is no clearly identified etiology for BA, although various theories have been
evocated such as bile duct ischemia [10] and viral infection (rotavirus and reovirus) but the
correlation is not proven in human [11].
CLASSIFICATION
The classification is based on the level of obliteration of the common bile duct. There are
three types: (Figure 1).
Type I: obliteration at the level of the common bile duct.

Type II: obliteration at the level of the common hepatic duct.
Type III: obliteration at the porta hepatis.
Type I and II are less common but have a much better prognosis [12].
Type I can be associated with a cystic dilatation of the common bile duct. In this case the
diagnosis can be evocated antenatally.
The presence of a cyst in the infrahepatic area on the antenatal ultrasound must evocate a
cystic form of BA, a checking ultrasound must be performed after birth to confirm this
condition in order to provide the right management, since the timing of surgery is really
important in case of BA whereas, in case of CDCHD the surgery is delayed.
Another specific form of BA is the association with the polysplenia syndrome which
includes multiple spleen, situs invertus, malrotation, preduodenal portal vein absence of
retrohpatic portion of the IVC and cardiac anomalies.
Biliary Atresia 157
Figure 1. Biliary Atresia Classification.
DIAGNOSIS
Antenatal Diagnosis <5%
The diagnosis of BA is suspected in absence of the gallbladder or when a cyst is found in

the infrahepatic area (cystic form of BA). The diagnosis can also be evocated if one or several
elements of the polysplenia syndrome are present.
In such cases, the infant has to be watched after birth for persistent jaundice or discolored
stool; an ultrasound checking must also be done.
Post-Natal Diagnosis
Clinical Findings
The jaundice appears few days or weeks after birth, the first meconium is usually normal
with a period of variably cholic stool in more than 50% [13].
With the persistence of cholestasis, the size of the liver increase gradually with a firm
consistence at the beginning; cirrhosis ultimately appears with its complications
(malnutrition, anemia, portal hypertension, ascitis and hepatic decompensation).
Typically the infant presents with persistent jaundice dark urine and acholic stool
(figure), the diagnosis of BA must then be evocated and other medical causes of conjugated
jaundice has to be excluded.
Serologic Evaluation
Blood tests are nonspecific; it shows extra hepatic cholestasis with elevation of
conjugated bilirubin, gamma GT and transaminases. Signs of liver failure appears later with
cirrhosis (decrease of PT, total protein and serum albumin, thromboplastin time).
Ultrasound
It is a simple, non-invasive procedure. The infant must be fasting for at least 4 hours
before the examination [14].
If the gallbladder is not visualized or shrunken, with absence of dilatation of the intra
hepatic bile duct, the diagnosis of BA is strongly evocated.
A normal gallbladder is > 1.5 cm length; the presence of a choledocal cyst excludes the
diagnosis as well.
Hepatobiliary Scintigraphy
Widely used to differentiate BA from other medical causes of cholestasis [15]; a
pretreatment with Phenobarbital for 3 to 5 days prior to the exam can be given in order to
enhance the hepatic excretion. Excretion of the radionuclide in the intestine excludes the
diagnosis of BA.
Liver Biopsy
Percutaneous liver biopsy is accurate in about 85% of cases, it is considered to be the
most reliable exam for the diagnosis of BA [16]; it shows ductular proliferation, bile duct
plugs, canalicular and cellular bile stasis, portal tract edema and fibrosis.
ERCP
In some centers, the use of ERCP is indicated when the ultrasound coupled with the liver
biopsy fail to assess the diagnosis. In case of BA, the ERCP shows no bile in the duodenum
with failure at the opacification of the bile duct or opacification of only the common bile duct
+/- the gallbladder.
Differential Diagnosis
Other tests are performed to eliminate other causes of conjugated jaundice:
 Alagille’s syndrome: or syndromic paucity of the interlobular bile duct

 Cardiac ultrasound: looking for pulmonary artery stenosis or hypoplasia
 Ophthalmic examination: looking for posterior embryotoxon
 Vertebral X-Ray: looking for butterfly-like vertebral arch defect
 Cystic Fibrosis
 Alpha 1 antitrypsin deficit
 Inspissated bile syndrome: ERCP which is useful for both diagnosis and treatment.
Biliary Atresia 159
TREATMENT
The Kasai procedure (hepatic portoenterostomy) is the standard operation for the
treatment of BA and has radically changed the prognosis of these children for 30 years.
Primary biliary drainage is achieved in over 2/3 of patients, although nearly half
ultimately develop progressive liver failure and will need liver transplant [17]. The Kasai
operation consists in resecting the entire extra hepatic biliary structures and anastomosing a
Roux en Y jejunal limb at the liver hilum (porta hepatis) [17]. The microscopic biliary
structure contained within the transected fibrous tissues drain bile into the intestine [18].
Dissection must be limited to the porta hepatis area and should be minimal in the pedicule to
avoid post-operative adhesion and facilitate liver transplant if needed, no drainage should be
left. The surgical exploration will note the liver consistency (usually fibrotic with green
discoloration), and also look for polysplenia syndrome elements. The procedure always ends
up with a liver biopsy.
Despite the clinical findings and the Para clinic exams, the diagnosis of BA is assessed
only in 80 to 90% preoperatively. The surgery represents the final step for the diagnosis and
the first step for the treatment; therefore, the first step of the surgery is to confirm or eliminate
the diagnosis of BA.
The operation is performed via a right subcostal incision; at first a mini laparotomy is
made which can be extended if the diagnosis is confirmed to proceed to the portoenterostomy.
The exploration of the infrahepatic area allows to expose the gallbladder; if it is reduced
to a fibrotic remnant then the diagnosis of BA is established [18], if a permeable gallbladder
is found then its content is aspired, if “white bile” is found this usually confirme the diagnosis
of BA. The punction is followed by an attempt of opacification, three possible results can be
obtained:
1. Complete extrahepatic duct patency excluding the diagnosis of BA, we then proceed
to a liver biopsy and the incision is closed.
2. Only the distal part of the extra hepatic duct appears from the gallbladder to the
duodenum. Portocholecystostomy (figure) can then be performed; this variant of the
classic Kasai procedure allows preserving the natural biliary sphincter and theorically
eliminating the risks of post-operative cholangitis, although it is associated with a
higher rate of bile leakage. In case of such complication the portocholecystostomy is
switched to a classic portojejunostomy.
3. Cholangiography shows no patent extra hepatic duct, the diagnosis of BA is assessed
and hepatic portoenterostomy is performed.
A nasogastric tube is left for 2 to 3 days until intestinal function returns, enteral feeding is
then gradually commenced. Some staff use protocols including ursodesoxycholic acid,
antibiotics, vitamins supplement, nutrition support or steroids, although none of those
protocols has shown evidence of real efficacy.
OUTCOMES
Biliary drainage characterized by clearance of jaundice and appearance of cholic stool is
acheaved in 2/3 patients although it is not a guarantee of cure [18], in fact, half of those
patients will develop progressive liver failure and may ultimately need liver transplantation
during childhood. The other half will keep normal functional native liver and remain free of
long term sequelae, they do not require liver transplant.
The remaining 1/3 patients with early failure of portoenterostomy will have persistent
jaundice and progressive liver failure that can only be salvaged with liver transplantation [18].
The 10 year survival rate is 89%, and 40% with native liver [19].
The survival rate with native liver is correlated with the age at the surgery, it is much
better when the surgery is done before 45 days of age (40% versus 25% when surgery done
over 45 days) [6].
POST OPERATIVE COMPLICATIONS

Bacterial ascending cholangitis
Bacterial ascending cholangitis occurs in 30 to 40% of cases, most commonly during the
first year and almost always in children with bile flow [20].Its clinical presentation associate
fever with worsening of jaundice and acholic stool, the diagnosis is confirmed by blood
culture and eventually liver biopsy and the treatment is based on broad spectrum antibiotics
(including anaerobic coverage). Recurrent cholangitis may be problematic, leading to discuss
liver transplantation.
Portal hypertension
At the time of surgery there is always a degree of liver fibrosis, it can progress even after
successful surgery leading to portal hypertension. Portal hypertension is manifested as ascites
and esophageal varices with the risk of bleeding [18]. Endoscopic surveillance of the upper
gastrointestinal tract in children treated for BA is recommended because of the
unpredictability of variceal formation. Treatment is based on variceal ligation, somatostatine,
surgical portosystemic shunt and more recently TIPS (Trans hepatic portosystemic shunt). If
those measures fail to control complications of portal hypertension, then liver transplantation
is considered.
Metabolic consequences of cholestasis
Diminished bile flow and liver impairment may cause malabsorption problems leading to
malnutrition, vitamin-K dependent coagulopathy, osteomalacia and rickets due to leak of
vitamin D and calcium. Nutritional supplementation is generally required and allows
controlling those troubles.
Biliary Atresia 161
Intrapulmonary shunts
Intrapulmonary shunts and hypoxia may occur even in anicteric children, the mechanism
is unknown.The diagnosis is made by specific Ventilation/perfusion radionuclide lung scan;
liver transplantation appears to be the only treatment.
Biliary leakage
This complication is specific to cholecystoportostomy, its clinical presentation associate

abdominal pain, decrease of bilirubin rate with persistence of acholic stool. Abdominal
ultrasound shows fluid around the infrahepatic area. The treatment requires switching to a
classic hepatic portoenterostomy.
CONCLUSION
Biliary atresia is a very rare condition; the management of those patients requires a long
practice, this is why it has to be made in reference centers by experienced staff.
REFERENCES
[1] Thomson.J: On congenital obliteration of the bile ducts: Edinbourgh Medical Journal
1891;37:523-531
[2] Holmes JB: congenital obliteration of the bile ducts: diagnosis and suggestions of
treatment. Am J Dis Child 1916; 11:405.
[3] Ladd WE: Congenital atresia and stenosis of the bile ducts. JAMA 1928; 91: 1082.
[4] Gross R: Obstructive Jaundice in infancy. In Gross R(ed): the surgery of infancy and
childhood. Philadelphia, WB Saunders, 1953.
[5] Kasai M, Suzuki S: a new operation for “non correctable” biliary atresia-
Portoenterostomy. Shijutsu 1959; 13: 733-739.
[6] Chardot C, Carton M, Spire Bendelac N et al.: Epidemiology of biliary atresia in
France: A national study. Journal of hepatology 1999; 31: 1006-1013.
[7] Yoon PW, Bresce JS, Olney RS et al.: epidemiology of biliary atresia: a population
based study. Pediatrics 1998; 101: 729-730.
[8] Hsiao CH, Chang MH, Chen HL et al.: Universal screening for biliary atresia using an
infant stool color card in Taiwan. Hepatology 2008; 47: 1233-1240.
[9] Brent RL: persistant jaundice in infancy. J Pediatr 1962; 61: 111.
[10] Klippel CH: A new theory of biliary atresia. J Pediatr Surg 1972; 7: 651.
[11] Brown WR, Sokol RJ, Levin MJ et al.: Lack of correlation between infection with
reovirus 3 and extrahepatic biliary atresia or neonatal hepatitis. J Ppediatr 1988; 113:
670.
[12] Nio M, Ohi R, Miyano T et al.: five and ten years survival rates after surgery for biliary
atresia: a report from the Japanese Biliary Atresia Registery. J Pediatr Surg 2003; 38:
997.
[13] Chiba T: Japanese Biliary Atresia Registery. In Ohi R (ed): Biliary Atresia. Tokyo,
Incom, Associates, 1991.
[14] Altman RP, Abramson S: Potential error in the diagnosis and surgical management of
neonatal jaundice. J Pediatr Surg 1985; 20: 529.
[15] Majd M, Reba RC, Altman RP: Hepatobiliary scintigraphy with 99mTc-PIPIDA in the
evaluation of neonatal jaundice. Pediatrics 1981; 67: 140.
[16] Lefkowitch JH: Biliary atresia. Mayo Clin Proc 1998; 73: 90.
[17] Kasai M: Treatment of biliary atresia with special reference to hepatic porto-
enterostomy and its modifications. Prog Pediatr Surg 1974; 6: 5.
[18] Altman RP, Buchmiller TL: The jaundiced infant: biliary atresia. In Grosfeld JL (ed):
Pediatric Surgery sixth edition, volume one 2006;103: 1603-1619.
[19] Davenport M: Biliary atresia in England and Whales. J Pediatr Surg 2011;
[20] Ecoffey C, Rothman E, Bernard O: Bacterial cholangitis after surgery for biliary
atresia. Journal of Pediatrics 1987; 111:824-829.
Chapter 16
CHOLEDOCHAL CONGENITAL MALFORMATION
Soumaya Khadidja Khadir, MD

Centre Hospitalier Univeristaire le Kremlin Bicetre, Le Kremlin-Bicêtre, France;
ABSTRACT
Choledochal congenital malformation refers to an abnormality characterized by a
unique or multiple communicating cystic dilations of the extrahepatic biliary duct,
associated or not with a dilatation of the intrahepatic left and right channel.
It is a rare condition in Western Europe and North America, more common in Asia;
the treatment is always based on surgery.
HISTORY
The first description of a fusiform dilation of the common biliary duct was made by Vater
in 1723 [1]. In 1852, Douglas published the first detailed case of a patient with a dilation of
the common biliary duct and suggested the congenital origin [2].
ETIOLOGY
The most admitted theory about the source of this malformation is the presence a
pancreaticobiliary malunion, which is characterized by the early implantation of the
pancreatic duct in the common bile duct far from the Vater ampulla, leading to a long
common channel.
This malposition leads to a pancreatic reflux in the common bile duct (CBD); which is
responsible of the histological damages of the CBD and the subsequent dilatation [3, 4].
This theory was first evocated by Babitt and is commonly admitted since the vast
majority of patients with congenital dilatation of the common bile duct seems to have a long
pancreaticobiliary common channel.
Figure 1. Todani Classification.
CLASSIFICATION
Alonso Lee et al. first described three forms of choledochal cyst [5], later, Todani, Coll
and others [6, 7] classified this anomaly into five types with several subtypes basing on the
study of the cholangiogram (Figure 1).
The five types commonly described are:
1. Saccular or fusiform dilatation of the common bile duct

2. Diverticulum of the extrahepatic portion of the bile duct
3. Choledochocele
4. Multiple cystic dilations of the intra and extrahepatic bile duct
5. Single or multiple cystic intrahepatic dilatations (Caroli’s disease).
DIAGNOSIS
Nowadays, the diagnosis is more often made antenatally, due to the progress of the
ultrasound. Some cases are still diagnosed after several months or years, whereas the
historical adult forms with portal hypertension, cirrhosis and cholangiocarcinoma are now
exceptional.
Choledochal Congenital Malformation 165
1. Prenatal diagnosis: based on the ultrasound during the 2nd or 3rd term of gestation
[8]. A cystic mass in the subhepatic area is found without other associated fetal
abnormalities.
A biliary atresia in the cystic form must be evocated and eliminated as it is a
therapeutic emergency, others diagnosis can also be evocated as the hepatic cyst and
other abdominal cysts. When such images are found prenatally, an ultrasound
checking must be performed after birth, in the absence of jaundice and stool
discoloration the diagnosis of congenital dilatation of the CBD is highly suspected,
and a magnetic resonance cholangio-pancreatography is indicated.
2. Post-natal presentation: if the diagnosis is not evocated antenatally, the
malformation can be asymptomatic for a while. The classic triad of jaundice,
abdominal pain, and palpable abdominal mass is rarely observed [9], the patients
present most commonly with abdominal pain associated or not with pancreatitis, and
this is why the diagnosis should be evocated in a patient with a history of non-
identified chronical abdominal pain. The clinical examination is not accurate, a
subhepatic mass is rarely observed, it is common to have an abdominal tenderness
most often in the upper right part of the abdomen. Later we can find jaundice due to
the obstruction of the CBD by the sludge or stones in the final part of the dilated
portion of the CBD.
3. Adult form: the historical presentation at the adult age is now exceptional, portal
hypertension can be found but also, cirrhosis, cholangiocarcinoma, and intrahepatic
stones. When the diagnosis is made antenatally, it is admitted perform surgery
between the age of three and six months, some recent study tends to lower this term
to 1 month of age [10]. The aim of an early surgical repair is to prevent appear of
complications.
COMPLICATIONS
 Pancreatitis is very frequent, it's the most common manifestation of this
malformation, laboratory tests confirms pancreatitis and the ultrasound or CT scan
report the existence of a CBD dilation as the leading point of pancreatitis.
 Stones can appear in the dilated bile duct and remains asymptomatic or lead to
complications such as migration, obstruction and pancreatitis, and in some rare cases
perforation.
 Perforation: rare (0.7 to 7%): resulting in a biliary peritonitis with abdominal pain,
jaundice, vomiting and delirium [5, 11]. The ultrasound reveals in these cases a
dilation of the bile duct and ascites
 Hepatic fibrosis is frequently present at the moment of surgery, even when the liver
appears macroscopically healthy [12], this may justify a systematic liver biopsy.
 Portal hypertension, cirrhosis, and cholangiocarcinoma are observed after a long
evolution period.
RADIOLOGICAL EXAM
The clinical presentation of the congenital dilation of the CBD is nonspecific, the
radiologic assessment of this malformation is mandatory before any therapeutic
consideration.
Radiological assessment allows the study of the biliary anatomy in addition to confirming
the diagnosis, which is very helpful before surgery.
Ultrasound
This exam suspected the anomaly but did not confirm it. A dilation of the extrahepatic
biliary duct associated or not with a dilation of the intrahepatic biliary duct, sludge or stones
in the dilated duct can be reported.
Magnetic Resonance Cholangiopancreatography (MRCP)
Allows a 3-dimensional reconstruction, it is the key anatomical investigation and replaces

CT scan and ERCP [9]. Must be performed every time the diagnosis is suspected after the
abdominal ultrasound, it shows the anatomy of the malformation precisely and identifies the
long common channel (standard value less than 5mm in children).
TREATMENT
The aim of the surgery is to reestablish a normal biliary flow and avoids the short and
long term complications.
Figure 2. Hepato Jejunostomy.

Many procedures had been tempted from a simple external drainage to several types of
internal drainage (cystico-duodenostomy or cystico-jejunostomy). These procedures which
leave the dilated bile duct in place have been widely performed in the 20th century, the
follow-up of the patients leads to several complications such as infection and stones due to
the stasis, and ultimately malignant evolution [13, 14].
The procedure admitted since the eighties is the complete excision of the extrahepatic
bile duct, followed by a Roux-en-Y hepaticojejunostomy with a 40cm loop (Figure 2). The
process includes a liver biopsy and drainage of the infra-hepatic area.
The dissection of the extrahepatic biliary duct stops toward the pancreas; it is usual to
leave the intrapancreatic portion in place.
Some authors described a hepatoduodenal diversion after the excision of the bile duct, but
this approach seems to be associated with a higher rate of complications such as cholangitis
and anastomosis stricture [15]. The same procedure can be performed either laparoscopically
or by open surgery, although the laparoscopic approach is technically more challenging and
requires surgical skills and takes longer times than the open approach, comparative studies
shows that it is feasible and safe even in pediatric population [16].
The timing of surgery is postponed to the age of 2 to 6 months for the prenatally
diagnosed forms; however, some recent studies recommend proceeding in the first month,
even in asymptomatic patients to avoid liver damages [10].
A nasogastric tube is left for 2 to 3 days; oral feeding can begin after its exclusion.
The abdominal drain is removed after five days, amylase rate can be measured in its
content, and an elevated rate traduces a pancreatic leakage which is common in the first days.
Usually, the postoperative hospital stay is simple.
POST-OPERATIVE COMPLICATIONS
Complications occur in 15 to 20% of patients [17, 18].
Early Complications
Like wound infection, anastomotic bile leakage or stenosis, cholangitis, bowel

perforation or bowel obstruction.
Late Complications
Intrahepatic stone formation tends to occur in older children with persistent dilated
intrahepatic bile duct [9].
Recurrent pancreatitis can occur many years after the surgery, and it is related to a
persistent remnant of the common channel. The treatment of such complication is challenging
since it is based on the excision of the intrapancreatic portion of the cyst which was first left
in place.
Cholangitis can occur due to an anastomotic stricture, or when the Roux en X loop is too
short which allows the intrahepatic reflux. Malignant transformation can happen in the
extrahepatic duct, either on the cyst itself, if not removed, or in the remaining part left after
the surgery. It is usually an aggressive form of adenocarcinoma, for which the incidence in
the general population is very low (less than 3/100000 [19]); whereas Watanabe et al. [20]
found 17% of malignant transformation in a review of the Japanese data of choledochal cysts.
The possibility of long-term complication, above all malignant transformation, leads to the
necessity of a lifelong follow up for all those patients, aiming to detect as early as possible a
malignant transformation. Annual liver ultrasound in addition to laboratory tests seems to be
reasonable. However, the addition of MRCP may improve the sensitivity [9].
CONCLUSION
The congenital choledochal malformation is a rare condition; the surgical management is
simple and well codified, and the follow-up is free of complications. However, the need for a
lifetime follow-up is justified to avoid an insidious malignant transformation.
REFERENCES
[1] Vater A, Ezler CS. Dissertatio de scirrhis viserum occasione sections viri tympanite
defunte, Wittenburgae 1723: 4 Pamphlers; 881:22.
[2] Douglas H. Case of dilatation of the common bile duct. Monthly J Med Sci 1852; 14:
97-101.
[3] Shimotakahara A, Yamataka A, Kobayachi H, Okada Y, Yanai T, Lane GJ et al. Forme
frustre choledochal cyst: long term follow-up with special reference to surgical
technique. J Pediatric Surgery 2003; 38:1833-36.
[4] Babitt DP. Congenital choledochal cyst: new etiological concept based on anomalous
relashionships of the common bile duct and pancreatic bulb. Ann Raiol 1969; 12:231-5.
[5] Alonso-Lej F, Rever WB, Pessagno DJ. Congenital Choledochal cyst with a report of 2
and an analysis of 94 cases. Int Abstr Surg 1959; 108: 1-30.
[6] Todani T, Watanabe Y, Narusue M et al. Congenital bile duct cyst: classification,
operative procedures, and review of 37 cases including cancer arising from choledochal
cyst. Am J Surg 1977; 134: 263-269.
[7] Todani T, Watanabe Y, Yoki A et al. Co-existing biliary anomalies and anatomical
variants in choledochal cyst. Br J Surg 1998; 85: 760-763.
[8] MacKenzie TC, Howell LJ, Flake AW, Adzick NS. The management of prenatally
diagnosed choledochal cysts. J Pediatr surg 2001; 36: 1241-1243.
[9] Dabbas N, Davenport M. Congenital choledochal malformation: not just a problem for
children. Ann Royal Coll Surg Engl 2009; 91: 100-105.
[10] Mei Diao, Long Li, Wei Chang. Timing of surgery for prenatally diagnosed
asymptomatic choledochal cysts: a prospective randomized study. J Ped Surj 2012; 47:
506-512.
[11] Ando K, MlyanoT, Kohno S, Takamizawa S, Lane G. Spontaneous perforation of
choledochal cyst: a study of 13 cases. Eur J Pediatr Surg 1998; 8: 23-25.
[12] Nambirajan L, Taneja P, Singh MK, Mitra DK, Bathnagar V. The liver in choledochal
cyst. Trop Gastroenterol 2000; 21:135-139.
[13] Metcalf MS, Wemyss-Holden SA, Maddern GJ. Management dilemmas with
choledochal cysts. Arch Surg 2003; 138: 333-9.
[14] Todani T, Watanbe Y, Urushihara N, Noda T, Morotomi Y. Biliary complications after
excisional procedure for choledochal cyst. J Pediatr Surg 1995; 30: 478-81.
[15] Shimotakahara A, Yamataka A, Yanai T, Kobayachi H, Okasaki T, Lane GJ et al.
Roux-en-Y hepaticojejunostomy or hepaticoduodenostomy for biliary reconstruction
during the surgical treatment of choledochal cyst: which is better? Pediatr Surg Int
2005; 21: 5-7.
[16] Huang Liuming et al. Effect of laparoscopic excsision versus open excision in children
with choledochal cyst: a midterm follow-up study. J Ped Surg 2011; 46: 662-665.
[17] Yamaguchi M. Congenital choledochal cyst analysis of 1433 patients in Japanese
litterature. Am J Surg 1980; 140: 653-7.
[18] Miyano T, Yamakata A, Kato Y, Segawa O, Lane G, Takamizawa S et al.
hepaticoenterostomy after excision of choledochal cyst in children: a 30 years’
experience with 180 cases. J pediatr Surg 1996; 31: 1417-21.
[19] West J, Wood H, Logan RFA, Quinn M, Aithal GP. Tends in the incidence of primary
liver and biliary tract cancers in England and Wales 1971-2001. Br J Cancer 2006; 94:
1751-8.
[20] Watanabe Y, Toki A, Todani T. Bile duct cancer developed after cyst excision for
choledochal cyst. J Hepatobiliary Pancreat Surg 1999; 6: 207-12.
Chapter 17
INTESTINAL DUPLICATIONS
Chaima Mrad1, MD, Taieb Chouikh2, MD

and Sofiene Ghorbel3, MD, PhD
1
2
Formely Pediatric Surgery Assistant Professor,
Tunis School of Medecine University El Manar Tunisia Special Registrar,
3
Formely Pediatric Surgery Professor,
Tunis School of Medecine University El Manar, Tunis, Tunisia
ABSTRACT
Intestinal duplications are rare congenital malformations that can take many forms
and may occur in any part of the gastrointestinal tract from mouth to anus. Symptoms
vary according to the duplication’s position, size, type and histology. Multiple
duplications can occur in the same patient, and other congenital anomalies may be
present.
Keywords: prenatal diagnosis, abdominal mass, acute abdominal pain, intestinal occlusion,
surgery
DEFINITION
The histological definition of an Intestinal Duplication was established by Ladd in
1937 [1].
According to this definition, alimentary tract duplications are congenital lesions having
three characteristics:
172 Chaima Mrad, Taieb Chouikh and Sofiene Ghorbel
1. the presence of a well-developed coat of smooth muscle

2. An epithelial lining representing some type of intestinal tract mucosa
3. An intimate anatomic association with some portion of the gastrointestinal tract.
HISTOLOGY
A gastric epithelium predominates in foregut lesions, while cysts further down the
gastrointestinal tract will contain small and/or large bowel mucosa. However, different types
of lining can be found in cysts at any site, and even pancreatic tissue and neural tissue can be
present.
EPIDEMIOLOGY
The reported incidence in autopsy series is 1 in 4500 [2] and approximately 1 in 10 000
live births [3]. Alimentary tract duplications represent less than 0.2% of all malformations in
childhood [4-6]. Boys and girls are equally concerned by this entity [7, 8].
EMBRYOLOGY
Multiple theories tried to explain the occurrence of enteric duplications:
*Split notochord theory and anomalous adhesion: (Bentley and Smith, 1960) [9]: A
longitudinal split develops in the notochord, so endoderm and ectoderm can connect. This
connection may result in a complete fistula from bowel to skin that passes through the spinal
cord and column.
*Diverticula and canalization defects: Bremer [10] suggested that duplications arise as a
result of incomplete or defective vacuolization of the intestine
*Partial or abortive twinning: The timing of the twinning anomalies may explain the
extent of the twinning.
*Environmental factors: trauma, hypoxia…
ASSOCIATED ANOMALIES
Children with gastrointestinal duplication seem to have a high incidence of other
associated anomalies.
Spinal malformations (bifid or hemi vertebrae) have been reported often, particularly
with thoracic or thoraco-abdominal lesions.
Intestinal abnormalities: malrotation or atresia have been associated with abdominal
duplications.
Urinary tract anomalies or bladder extrophy have been reported with midgut and hindgut
malformations.
Intestinal Duplications 173
CLASSIFICATIONS
Alimentary tract duplications can be tubular or cystic.
Cystic form is more common and tubular structures are seen in 10-20% of the cases [11].
It can be single or multiple, commonly; they are non-communicating but can in rare cases
communicate with the lumen of the adjacent intestinal segment.
Enteric duplications are classified depending on the anatomic location of the duplication.
Figure1 shows the different locations and their frequencies.
DIAGNOSIS
Prenatal Diagnosis
The first prenatal diagnosis of enteric duplication by ultrasound was reported by van Dam
[13] in 1984 at 20 weeks of gestation. As more experience with antenatal diagnosis was
acquired, the majority of cases of duplications were identified in the chest or the upper
abdomen, where they are more easily visualized by ultrasound.
Figure 1. The different anatomic locations of alimentary tract duplications [12].

Figure 2. The double wall sign.
Figure 3. Enteric duplication on fetal MRI (arrow).
There are 2 sonographic signs highly suggestive of enteric duplication: the “double-wall”
sign and the presence of peristalsis [14, 15]. The “double-wall” sign consists of an inner
hyperechoic rim correlating to the mucosa-submucosa and an outer surrounding hypoechoic
layer reflecting muscularis propria. (Figure 2).
The prenatal ultrasound should search for other associated malformations.
The differential diagnosis of a cystic mass in the fetal abdomen includes urinary and
gastrointestinal tract defects, choledochal and hepatic cysts, splenic and mesenteric cysts,
meconium cysts, fetal cystic neuroblastoma, mesoblastic nephroma and ovarian cysts in
females.
Magnetic resonance Imagery (MRI) is more accurate than ultrasound in delineating the
fetal anatomy. On fetal MRI, enteric duplications appear hyperintense on T2-weighted images
and hypointense on T1-weighted images. (Figure 3) It is also more accurate in detecting

associated anomalies.
POST-NATAL DIAGNOSIS
Alimentary tract duplications can present in a variety of ways depending on their size,
location, adjacencies, and whether they contain or not heterotopic gastric mucosa.
The majority of duplications are diagnosed in the first 2 years of life. Many duplications
have few or no symptoms and are found incidentally.
Clinical History may include symptoms as whizzing, pneumonia, abdominal mass,
dysphagia, abdominal pain and vomiting. An acute distention with secretions or infection of
the mass may cause severe abdominal pain. If the duplication contains heterotopic gastric
mucosa, ulceration and bleeding or even perforation may result.
An acutely enlarging cystic mass may cause obstruction of the adjacent bowel and result
in nausea and vomiting. A large duplication may even cause localized volvulus.
Physical examination: an abdominal mass may be palpable. The mass is typically mobile
and may be tender depending on the child’s symptoms. Chest masses may be accompanied by
locally diminished breath sounds. Physical examination will search for other malformations.
Laboratory tests can reveal anemia if the lesion has caused bleeding.
A duplication cyst in the head of the pancreas may give elevated serum amylase and
lipase levels.
Ultrasound examination: The cyst is typically anechoic on ultrasonography, unless there
had been ulceration and bleeding. The wall is typically 2 to 3 mm thick because it is
composed of smooth muscle and mucosa. The mucosal lining produces an echogenic signal
on the inside of the cyst.
Gastrointestinal contrast: may show an impression from the mass on the intestine and
can be helpful in the diagnosis (Figure 4a).
Computed Tomography (CT) scan: enteric duplications typically appear as cystic masses
with an enhancing rim (Figure 4b).
Clinical Presentations and Management
Will be described separately depending on the anatomic location of the duplication [12,
17].
 Cervical esophageal duplication:
This location is very rare. Patients present early in life with respiratory distress. A mass
may be appreciated on physical examination. CT scan is the best diagnostic tool. The
differential diagnosis includes other cystic masses of the neck such as lymphatic
malformations and cysts of the airway or bronchial apparatus, or thyroglossal cysts.
Figure 4. Duodenal duplication on gastrointestinal contrast (5a) and on abdominal CT scann (5b).
Treatment consists of excision if possible. Cervical esophageal duplications can be

removed via a supraclavicular approach. Excision of the cyst is achieved by transecting the
lesion close to the esophagus and removing the residual mucosa. The proximity of the vagus
and phrenic nerves and the right lymphatic duct or thoracic duct should be noted. Any
communication with the esophagus should be closed and the residual muscular defect
repaired. Complete mucosal excision is essential to avoid recurrence.
 Thoracic duplications:
Approximately 20% of duplications [19]. Clinical presentation is usually in the neonatal

period, with respiratory distress as the lesion fills with secretions and compresses the lung
hilum. A high proportion of these lesions contain gastric mucosa, which can cause ulceration
into the esophagus or trachea, producing gastrointestinal bleeding or haemoptysis.
Thoracic lesions may extend across the diaphragm and, in some cases, the bulk of the
duplication is intra-abdominal. It is in this group of duplications that the presence of vertebral
anomalies and abnormal uptake on 99mTc-pertechnetate radionuclear scanning may help in

preoperative diagnosis.
Intrathoracic esophageal duplication cysts can be approached transpleurally through a
postero-lateral thoracotomy, while thoraco-abdominal ones are best approached by separate
thoracic (posterolateral thoracotomy) and abdominal incisions.
Video-assisted thoracoscopic resection of a thoracic esophageal duplication is feasible.
Single lung ventilation with collapse and retraction of the ipsilateral lung facilitates surgical
exposure. After dissection, if the cyst remains intact, it is aspirated to enable removal through
a port site.
 Gastro-duodenal duplications:
Gastric duplications usually arise from the greater curve of the stomach. A large lesion
may present as an abdominal mass, as an acute abdomen or with gastrointestinal bleeding.
Smaller lesions may present with pancreatitis. In infants they may mimic hypertrophic pyloric
stenosis. Pyloric and duodenal duplications usually present by causing obstruction to the
intestinal lumen or pancreatitis. The most helpful investigations in this group of duplications
are 99mTc-pertechnetate radionuclear scanning and cross-sectional imaging.
Greater curve or Pyloric duplication cysts can be completely excised by dissecting the
cyst off the gastric submucosa and repairing the residual seromuscular defect. Extensive
duplications of the greater curve of the stomach are best treated by partial resection, stripping
of the residual mucosal lining, and repair. Laparoscopic staple excision of smaller gastric
duplication cysts is an alternative technique.
Surgical alternatives in duodenal duplications are dictated by the anatomy and include
complete excision of the cyst with division of any ductal communication, partial excision and
mucosectomy of the remaining part of the cyst or, when the duplication is adjacent to the
ampulla of Vater, it can be fenestrated into the duodenal lumen.
 Duplications of the small intestine:
They are the most common enteric duplications, and the majority of them occur in the
ileum. They may be either cystic (Figure 5) or tubular, and most are located on the mesenteric
side of the intestine, unlike Meckel diverticula. Frequently, the duplication shares its
muscular wall and blood supply with the adjacent intestine. Communication with the lumen
of the intestine may be variable.
Clinical presentation include abdominal pain and/or a mass. Small cystic duplications can
act as a lead point for small bowel intussusception or result in localized volvulus. If the
duplication enlarges or swells, it can lead to a compression of the adjacent intestine and cause
obstructive symptoms. Some duplications contain ectopic gastric mucosa that can cause
peptic ulceration, bleeding, or perforation.
The duplication should be resected with the adjacent intestine after ligation and division
of associated mesenteric vessels, with end-to-end anastomosis. Laparoscopic techniques are
applicable in selected cases.
Figure 5. Small intestine duplication.
Extensive tubular duplications, which if resected would risk a short bowel syndrome,
pose a much more difficult problem. In such cases, submucosal resection is an alternative
option. The mucosal lining is stripped out using a series of longitudinal seromuscular
incisions in the duplication.
For tubular duplications within the mesentery but separate from the intestine, careful
separation of the two leaves of the mesentery and division of vessels on one side only may
enable enucleation of the duplication. Associated intestinal malrotation will require a Ladd’s
procedure.
 Duplications of the colon and rectum:
They represent 17% of all enteric duplications. They may be associated with abortive
twinning anomalies and have been reported in conjoined twins and with duplication or other
anomalies of the urinary tract and the genitalia. All cystic and most tubular duplications can
be excised by segmental colonic resection. The bowel is re-anastomosed with an end-to-end
suture.
If there is complete hindgut duplication with two perineal openings, a preliminary double
colostomy is recommended. The duplicated bowel can later be transected at the level of the
rectum and anastomosed to the normal rectum. The mucosa of the redundant distal segment is
excised.
Rectal duplications often present in the neonatal period as a perineal mucosal swelling
and/or a fistula extending to the perianal area or anorectum. Small submucosal rectal lesions
can be excised endorectally. A limited perineal excision is all that is required for a localised
small mucosal duplication. In the case of larger or more complex duplications, the posterior
sagittal approach provides excellent exposure of the retrorectal space. Rectal duplications
should be completely excised if possible because numerous examples of late malignant
degeneration of these cysts have been described.
CONCLUSION
Gatsro-Intestinal duplications are uncommon and have varied, nonspecific symptoms.
The ultrasound is a good screening tool but requires a high index of suspicion. The treatment
is bases on the complete excision. The long-term prognosis of children with ED depends on
the extent of physiological disturbance due to associated anomalies.
REFERENCES
[1] Ladd, W. E. (1937). Duplications of the alimentary tract. Sth Med J, 30, 363-371.
[2] Potter, E. L. (1952). Pathology of the Fetus and the Newborn, Chicago: Year Book
Medical Publishers.
[3] Ilari, J., Martorell, R., Morales, M., Capdevila, M., Mairal, J. A., Teixidó, M. and
Casadella, A. (1998). Duodenal duplication. Cirugía pediátrica: organo oficial de la
Sociedad Española de Cirugía Pediátrica, 11(1), 37.
[4] Scheye, T., Vanneuville, G., Dechelotte, P., Queroy-Malamenaide, C. and Aufauvre, B.
(1995). Les duplications du tube digestif chez l’enfant: à propos de 12 observations. In
Annales de chirurgie (Vol. 49, No. 1, pp. 47-55). Elsevier.
[5] Gross, R. E., Holcomb, G. W. and Farber, S. (1952). Duplications of the alimentary
tract. Pediatrics, 9(4), 449-468.
[6] Karnak, I., Ocal, T., Senocak, M. E., Tanyel, F. C. and Büyükpamukçu, N. (1999).
Alimentary tract duplications in children: report of 26 years’ experience. The Turkish
journal of pediatrics, 42(2), 118-125.
[7] Nouri, A., Belguith, M., Mekki, M., Ben Attia, M., Sayed, S. and HOUISSA, T. (1993).
Les duplications digestives chez l’enfant. A propos de 24 cas. Revue maghrébine de
pédiatrie, 3(1), 17-21.
[8] Cooper, S., Abrams, R. S. and Carbaugh, R. A. (1995). Pyloric duplications: review and
case study. The American surgeon, 61(12), 1092-1094.
[9] Bentley, J. F. R. and Smith, J. R. (1960). Developmental posterior enteric remnants and
spinal malformations the split notochord syndrome. Archives of disease in childhood,
35(179), 76-86.
[10] Bremer, J. L. (1944). Diverticula and duplications of the intestinal tract.
[11] Burge, D. M., Griffiths, M. D., Steinbrecher, H. A. and Wheeler, R. A. (Eds.). (2005).
Paediatric surgery. CRC Press.
[12] Stringer, M. D. (2006). Gastrointestinal Duplications. In Pediatric Surgery (pp. 240-
256). Springer Berlin Heidelberg.
[13] Van Dam, L. J., De Groot, C. J., Hazebroek, F. W. J. and Wladimiroff, J. W. (1984).
Intra-uterine demonstration of bowel duplication by ultrasound. European Journal of
Obstetrics and Gynecology and Reproductive Biology, 18(4), 229-232.
[14] Segal, S. R., Sherman, N. H., Rosenberg, H. K., Kirby, C. L., Caro, P. A., Bellah, R. D.,
... and Horrow, M. M. (1994). Ultrasonographic features of gastrointestinal
duplications. Journal of ultrasound in medicine, 13(11), 863-870.
[15] Kangarloo, H., Sample, F. W., Hansen, G., Robinson, S. J. and Sarti, D. (1979).
Ultrasonic Evaluation of Abdominal Gastrointestinal Tract Duplication in Children 1.
Radiology, 131(1), 191-194.
[16] Laje, P., Flake, A. W. and Adzick, N. S. (2010). Prenatal diagnosis and postnatal
resection of intraabdominal enteric duplications. Journal of pediatric surgery, 45(7),
1554-1558.
[17] DENNIS, P. and DARYL, B. (2012). LUND. Alimentary Tract Duplications. Pediatric
surgery 7th Edition.
[18] Holcomb 3rd, G. W., Gheissari, A., O’Neill Jr, J. A., Shorter, N. A. and Bishop, H. C.
(1989). Surgical management of alimentary tract duplications. Annals of surgery,
209(2), 167.
Chapter 18
ANORECTAL MALFORMATIONS
Célia Crétolle, MD, PhD

Pediatric Surgeon, Pediatric Surgery Department, Co-Coordinator National Reference
Center MAREP for “Anorectal Malformations and Rare Pelvic Anomalies”
Coordinator of the “Filière Nationale de Santé Maladies Rares” NeuroSphinx
Necker-Enfants Malades Hospital, Paris, France
ABSTRACT
Anorectal malformations (ARM) concern all anorectal tract defects. Their prevalence
is approximately 1/3000. It is a broad spectrum of malformations with heterogeneous
functional prognosis, associated in 60% of cases with other malformations. Nearly 30%
of cases are well-identified syndromes. It is thus important that newborns with ARM are
referred to an expert center to provide early and complete care.
Although the surgical treatment based on the type of the malformation is now well
codified, and aims to reproduce normal anatomy, mechanical defecation process remains
altered. Postoperative management and follow-up have an important place, to keep these
patients, if not continent, at least with socially acceptable cleanliness.
The therapeutic strategy should be based on a multidisciplinary follow-up over a
long time which is the guarantee of a satisfactory functional outcome in adulthood,
involving the intervention of a visceral surgeon, and also urologist, neurosurgeon,
orthopedist, cardiologist depending of the associated malformations. The place of
supportive care is also fundamental: dietician, psychologist, social worker at different
ages and physiotherapist (after the age of 7 years old). In this respect, the development of
therapeutic education programs can be of great value to accept constraints of support and
management.
Because disability generated by these defects is not visible, the impact can be
relevant in everyday life. Wandering and isolation of patients are still significant and can
lead to extreme situations. The labeling of the French National reference center MAREP
(for anorectal malformations and rare pelvic anomalies) has demonstrated the important
role of medical and para medical care for this surgical pathology and of developing
networks of medical and supportive care throughout the country.
This requires a tight collaboration between pediatric and adult teams to build
program of transition to adulthood and conversely to better identify the late sequelae of
these pathologies.
182 Célia Crétolle
Keywords: Anorectal malformations, neonatal management, associated malformation,

Currarino syndrome, classification, colostomy, Y-V proctoplasty
EPIDEMIOLOGY - EMBRYOLOGY
Anorectal malformations (ARM) are rare diseases (with reference to the European
Parliament definition of rare diseases in 1999), since their prevalence in the Caucasian
population varies from 1/2500 to 1/5000 live births. They concern all anorectal tract defects
and are the most frequent malformations of the perineum. The sex ratio 1.6/1 is in favor of
girls. The majority of cases is sporadic [1]. In isolated forms (without any associated
malformation), no familial predisposition factor is identified [2, 3].
ARM are "frequent rare” defects occuring between the sixth and tenth week of
development and thus covering a wide spectrum of malformations with heterogeneous
functional prognosis, depending on the stage of development they occurred and therefore
severity of defects. The embryogenesis of ARM is still controversial [4] but can be
schematically outlined as two different groups of defects.
The high form of ARM is a defective progression of the cloaca septation that leads to a
communication between the terminal digestive tract and bladder or urethra in boys, vagina or
in its extreme form in girls, to a persistence of the cloaca with a single perineal fistula and a
common channel for urogenital and terminal digestive tracts. The low form of ARM results
from abnormal permeation of the anal membrane occuring in more advanced stage of the
digestive pathway development leading to a communication of the terminal digestive tract
with the perineum, anteriorly to the normal position of the anus (perineal skin or scrotum in
boys, posterior vestibule or fourchette in girls).
Whatever are the precise mechanisms underlying the genesis of ARM, the malformation
process, particularly in high forms, appears more global with an impact on the development
of other caudal structures of the embryo. In more than half of cases, there are other associated
malformations, beyond the only anorectal tract: sacrum or lombar vertebrae, terminal cone of
the spinal cord, urinary and/or genital systems, or even more complex associations defects
that occurred early in development, such as thoracic/cervical vertebrae anomalies, esophageal
atresia, cardiac defects... A syndromic form is clearly identified in nearly 30% of cases, e.g.,
VACTERL association or Currarino syndrome.
Hence, even if surgery restore anatomy, the defecation process, which involves different
pelvic structures, will be altered. This justifies to leave an important place in the post-
operative care to offer to these patients, otherwise to be fecal continent, at least a socially
acceptable cleanliness.
CLASSIFICATION
The French surgeon JZ. Amussat was the first to describe a proctoplasty in 1835 [5].
Different classifications have accompanied advances in understanding the ARM anatomy and
evolution of surgical strategies. The Melbourne classification was the reference since 1970,
based on Douglas F. Stephens’works on the major prognostic criteriae: quality of the pubo-
Anorectal Malformations 183
rectal component of levator ani, and on the level of the lower part of rectal cul-de-sac. Thus, 3
major forms of ARM were described: high, low or intermediate, according to the embryology
and the cul-de-sac level respectively above, below or at the same level of the insertion of the
levator ani, whatever the level of the fistula [6].
A. Peña in the 80s introduced a classification based on the level of the rectal fistula that
aims to adapt the surgical strategy and to predict the functional outcome. This classification
has evolved to a consensus in 2005, after the Conference of Krickenbeck [5] essentially based
on the existence (or not) of a fistula and its level, separating the common forms and
exceptional ones (Tables 1 and 2; the main forms of ARM are shown in Figures 1 to 4).
Table 1. ARM Classification according the Krickenbeck conference, 2005 [5]
“Classical” Forms Complex and unusual defects

Males: Pouch colon
Recto-perineal (cutaneaous) fistula Rectal atresia/stenosis
Recto-urethral bulbar fistula Recto-vaginal fistula
Recto-urethral prostatic fistula H type fistula
Recto-vesical fistula Others: Cloacal exstrophy, Posterior
Imperforated anus without fistula cloaca, associated to pre sacral mass …
Anal stenosis
Females:
Recto-perineal fistula
Recto-vestibular fistula
Cloaca with short common channel (< 3 cm)
Cloaca with long common channel (> 3 cm)
Imperforated anus without fistula
Anal stenosis
Table 2. ARM frequency (Krickenbeck conference classification, 2005) [5]
Formes Frequence
Recto-perineal (cutaneous) fistula 35-40%
Recto urethral fistula (bulbar or prostatic) 20-25%
Recto-vesical fistula 5%
Recto-vestibular fistula 15%
Cloaca 5%
No fistula 5%
Rare variants 5-10%
DIAGNOSIS
Clinical Examination
The diagnosis is rarely established in antenatal period, but it is sometimes suspected if

there are associated malformations (e.g., VACTERL association), digestive lithiasis or rarely
a digestive distension. ARM should also be suspected in case of foetal hydrocolpos in girls,
which can be observed in a cloacal malformation, especially if associated with sacral

vertebrae, urogenital or spinal cord anomalies. Exceptionally, cloacal exstrophy is suspected
in case of parietal defect [7].
At birth, the diagnosis of ARM is based on clinical examination and targeted radiological
assessment if the diagnosis is confirmed. In females, precised perineal orifices examination is
mandatory to identify a cloacal malformation with a single perineal fistula (Figure 4). In this
situation, the aspect of the vulva can make the difference between the good prognosis forms
with a short common channel (< 3 cm) (Figure 4a) from those of poorer prognosis, with a
long common channel (> 3 cm) (Figure 4b), where the gluteal muscles are poorly developed
or absent, frequently associated with sacral and spinal anomalies.
Figure 1. Low form of ARM: Anterior recto-perineal fistula. (Left: in girl. Right: in boy). The perineal
fistula opens in front of the lower part of the striated sphincter muscle complex normally developed.
Perineal fistula can be difficult to identify if the orifice of the fistula is narrow and
located at the base of the vulvar “fourchette” (Figure 2). Conversely, diagnosis of ARM can
be missed if perineal fistula is just anterior to normal anus position and be characterized as
normal anus (Figure 1). Hence, the diagnosis is often delayed in these minor forms, revealed
by a chronic fecal retention, in general after cessation of breastfeeding. Absence of radial
folds, the existence of inter ano-vulvar perineal grove and anterior position of the anus have
to consider this diagnosis.
In males, in low forms of ARM, there is anterior perineal fistula (Figure 1) or skin
covering the fistula with a rectal cul de sac just below. Sometimes, the fistula does not open
into the perineum, but rather follows a subepithelial midline tract, opening somewhere along
the midline perineal raphe, scrotum, or even at the base of the penis. In higher forms, the
rectum is above the levator ani insertion and fistula communicates in most of cases with the
urinary tract, usually the prostatic urethra (Figure 3a and 3b). Presence of meconium in urine
confirms the presence of a fistula with urinary tract, but is not always observed when the
fistula is not permeable.
Figure 2. Low form of ARM: Recto vestibular fistula. The lower part of the rectum and the posterior
part of the vagina are closely joined. The striated sphincter muscle complex is well developed.
a b
Figure 3. High form of ARM in boy Left: Recto-bulbar fistula. Right: Recto-prostatic fistula. The
muscular sphincter complex is present, more developed as the fistula is low.
a b
Figure 4. High form of ARM in girl: cloacal malformation. On the left, the common channel is short
(<3cm), the sacrum and the sphincter muscle complex are well developed. On the right, the common
channel is long (>3 cm), the sacrum is incomplete, muscle complex is atrophic.
Radiological Assessment
All newborns must have an expert medical advice if ARM diagnosis is suspected.
Radiological assessment is mandatory to identify the type of ARM - high or low - the level of
the fistula, and identify associated malformations that will influence the course of the initial
management and prognosis. In addition to the clinical examination, the level of rectal cul de
sac may be assessed with Wangensteen and Rice standard X-Ray or invertogram (Figure 5),
with lateral cross table film and baby in prone position. The air level is evaluated on a virtual
line from pubis to coccyx, which represents the insertion level of the levator ani, but often
with inaccuracies. Perineal soft structures UltraSound (US) can also be performed with a
sensibility around 85% [8]. Unfortunately, diagnosis and therapeutic decisions are often made
in emergency at birth and it is not always possible to have this expertise. The pelvic and
spinal cord MRI value is significant, as it allows expertise of the length of the fistula, the
level of the rectum and associated pelvic and spinal abnormalities [9], but access to this
specific exam is often impossible in emergency.
The anatomical shape of the ARM is an essential element of fecal elimination control
prognosis. It is assumed that higher the rectum is, the less the sphincter muscles and
potentially their innervation, will be developed.
Echocardiography must be performed in emergency because of the high risk of associated

cardiopathy. Complete spinal and ribs X Rays and spinal cord conus and urinary tract US to
eliminate other associated malformations. If spinal cord anomaly is suspected, MRI is
mandatory around the age of 3 months.
Figure 5. Invertogram or Wangensteen and Rice X-Ray, lateral cross table film with the baby in prone
position [5].
Figure 6. Currarino Syndrome: typical sickle shaped sacrum malformation.

ASSOCIATED AND SYNDROMIC FORMS

Associated anomalies are present in 60 to 75% of ARM cases [9], which worsen the
prognosis. In order of frequency: 40% of urogenital tract anomalies (hypospadias, renal
agenesis, pelvic kidney, bicornuated uterus...), 40% of musculoskeletal damage, especially
the sacrum, 20 to 30% cardiac defects (tetralogy of Fallot, ventricular septal defect ...), 18%
other digestive disorders (esophageal atresia ...), 10% of craniofacial anomalies and at least
20% of central nervous system malformations (tethered cord, filum lipoma ...) [10].
Lumbosacral MRI achieving more systematically, confirms that the frequency of spinal cord
defects has long been underestimated and can reach 34% in the most recent series in
particular when sacrum is abnormal [11]. These “associated” ARM correspond to a clearly
defined “syndromic form” in 30% of cases; this includes the malformations association
VACTERL (Vertebral, Anal, Cardiac, Tracheal, Esophageal, Renal, Limb) or MURCS
(Mullerian duct, Renal aplasia, Cervical-thoracic Somite dysplasia) or sequences as caudal
regression syndrome with truncated spinal cord to sirenomelia, Klippel Feil syndrome or
OEIS (Omphalocele, bladder Exstrophy, Imperforate anus and abnormal Sacrum). In some
syndromic forms, molecular abnormalities have been identified, with autosomal dominant or
recessive mode of inheritance (Table 3). Some ARM are also part of syndromes with
chromosomal abnormalities, the most frequent is the Down syndrome or trisomy 21 and
abnormalities of chromosome 22: Cat-eye syndrome (tetrasomy 22q11) and DiGeorge
syndrome (del22q11.2) (Table 4).
Table 3. The main syndromic forms of ARM from molecular origin,

with gene and pattern of inheritance
Dominant Autosomal Recessive Autosomal XLR-XLD

Currarino (MNX1) Johanson-Blizzard (UBR1) G-Opitz (MID1)
Pallister-Hall (GLI3) Short ribs-polydactyly (Type III Lowe (OCRL)
Townes-Brocks (SALL1) de Verma-Naumoff) Heterotaxy (ZIC3)
Okihiro (SALL4) Baller-Gerold (RECQL4) FG
Ulnar-mammary (TBX3) A few Ciliopathies Renpenning (PQBP1)
Rieger (PITX2) Fraser (FRAS1, FREM2) MIDAS (HCCS)
Kabuki Christian Sutherland-Haan
G-Opitz (MID1) STAR (FAM58A)
AD: Autosomal Dominant
AR: Autosomal Recessive
XLR/XLD: X-link recessive/X-link Dominant
Table 4. The main syndromic forms of ARM from chromosomal origin
Trisomy 21
Trisomy 13, del13q, r13
Trisomy 18
Cat-eye (22q11 tetrasomy)
Pallister-Killian (12p tetrasomy)
Parental unidisomy 16 (maternal)
Di George (del22q11.2)
A particular mention for Currarino syndrome, described in 1981 as a triad, with

historically three major clinical signs: i) a partial sacral agenesis in 92% of cases, typically
scimitar or sickle shaped sacrum in 70% of cases (Figure 5), ii) an anorectal malformation in
almost 100% of cases, corresponding to an anorectal stenosis in 88% of cases called
“infundibular anus” without radial folds (“funnel” anus), iii) pre-sacral tumor in 88% of cases
[12, 13] (meningocele and/or a teratoma or more rarely a neurenteric cyst). An occult spinal
dysraphism is also observed in 70% of (tethered cord syndrome and low lying conus with
filum lipoma and/or syrinx) and genital malformations in girls (Mullerian duplications) [13].
In almost half of cases, there is also frequent communication between the pre-sacral mass and
meninges, exposing patients to the risk of spontaneous meningitis, or favored by rectal
retention. Indeed, beyond the anorectal malformation, there is in most cases, severe transit
constipation that remains poorly documented (probably associated digestive neuropathy).
A heterozygous mutation of MNX1 gene is found in 50% of cases, with an autosomal
dominant pattern of inheritance, over 80% of familial cases. The expressivity is variable with
incomplete penetrance, even in the same family, which makes genetic counseling difficult.
This is obviously a sequence, and finally a normal sacrum does not formally eliminate this
syndrome since it was found in about 5% of Currarino cases with confirmed molecular
mutation [13].
SURGICAL MANAGEMENT
The surgical management of ARM is well codified and depends on the anatomy of the
fistula. In the lower forms with anteposition of the perineal fistula or without orifice, surgical
repair can be achieved without resorting to a colostomy. Y-V proctoplasty, cutback or
posterior sagittal anorectoplasty are possible. If the anus is just anterior, surgical correction is
not always mandatory because some of these patients retain normal transit as the distance
ano-vulvaire lengthens with the growth and the unsightly appearance fades over time. In the
first days of life, dilatations of the fistula (or bougierages) allow to wait for surgery when the
child is premature or has to undergo another surgery, especially if congenital cardiopathy is
associated. In the latter case, if bowel movements are not normal, a colostomy is mandatory
to put the child in a comfortable situation, time to solve other medical and surgical problems.
Low forms of ARM require frequent and prolonged follow up because of a tendency to stools
retention throughout childhood and beyond, which can paradoxically lead to poor control of
the anal sphincter [14].
In intermediate or high forms, a first colostomy is performed to allow the child to grow
before surgical repair that occurs around the age of 3 or 4 months when weight is around 6
kg. A divided descending colostomy is ideal. The completely diverting colostomy provides
bowel decompression as well as protection for the final repair of the malformation. In
addition, this type of colostomy facilitates the distal colostogram, which represents the most
accurate diagnostic study for determining the anatomy of these defects [5].
Most pediatric surgeons today use the posterior sagittal approach described in 1982 by
Peña and De Vries, with or without laparotomy or laparoscopy. PSARP (Postero-Sagittal
Ano-RectoPlasty) should never be attempted without a technically adequate high-pressure
distal colostogram to determine the exact position of the rectum and the fistula. Attempting
the repair without this important information significantly increases the risk of nerve damage,
damage to the seminal vesicles, prostate urethra, ureters, bladder neck, and bladder
denervation [15]. This technique has revolutionized the surgical management of these
children because surgery is performed in good conditions and preserves muscles of
continence and neurovascular structures whatever is the level of rectum. However, abdominal
approach is necessary especially in boys, when the rectum is high located, e.g., rectovesical or
bladder neck fistula, or in case of cloacal malformation in girls.
With the development of minimally invasive surgery, a laparoscopy-assisted anorectal
pull-through was described in 2000, which is now used routinely in the high forms of ARM in
some centers or only in cases of high-located fistula in other centers [16]. Whatever the repair
technique, colostomy is usually closed 2-3 months later associated for some teams with a
protocol of daily anal bougierage over several months, as recommended by A. Peña. This last
point is controversial.
Besides these two typical situations, there are more complex forms requiring the use of
additional surgery on the spinal canal, e.g., Currarino syndrome, or the urogenital tract,
particularly in extreme forms as cloacal malformation.
SHORT AND LONG TERMS POST-OPERATIVE CONSIDERATIONS

Anatomical abnormalities resulting from ARM processes are definitive. Despite the
major progresses in surgery that have been made over the past decade, the ad integrum
restitution functions to ensure continence and normal bowel movements is not possible. In
addition to the sacral and spinal cord abnormalities, there are certainly intrinsic defects of
perineal and digestive innervations that can explain the persistence of poor functional results
in some cases, despite a “cosmetically” satisfactory repair.
These recent years, progresses in surgical techniques allowed to focus on the
postoperative care improvement by taking better account of the associated malformations. In
the absence of normal continence, the aim is to get at least controlled cleanliness that is
consistent with satisfactory social life. This therapeutic strategy is based on a
multidisciplinary long-term monitoring involving digestive surgeon but also urologist,
neurosurgeon, orthopedist and pediatrician, gastroenterologist, cardiologist... Involvement of
supportive care is fundamental, and the repeated interventions of dietician, psychologist,
social worker and physiotherapist (after the age of 6 years) are necessary. The acquisition of a
controlled cleanliness based on the multidisciplinary medical support is essential to ensure a
good functional outcome in adulthood.
Vigilance must be a priority to maintain regular bowel movements, often caused by
multi-weekly enemas [17] or even daily and regular pelvic floor muscle training, adapted to
each case and every age. Diet plays an important role in modulating stool consistency and
probably by activating the digestive motility. In the absence of such support, patients are
exposed to either a complete lack of control of stools, or severe constipation leading to the
development of a mega colon and rectum, fecal retention and overflow incontinence [18].
The active patient and family involvement in treatment and monitoring is a prerequisite
to move towards an optimal result. This is not always easy to obtain because this condition
affects the most intimate parts of the individual, and the care required parents (and the patient
himself when growing up) to perform invasive procedures (dilatations, enemas…). It can
generate psychological problems that can lead to a destabilization of the familial unit. In this
context, the development of therapeutic education programs should help parents and child to
accept these constraints. Familiarization of parents and patient with anatomy, physiology and
self-care techniques, can widely contribute to obtain a socially acceptable controlled
cleanliness by improving understanding of the pathology.
The assessment of long-term functional results of ARM has been so far carried out on
patients treated before the development PSARP approach or laparoscopy-assisted anorectal
pull-through. These patients were often not accompanied in support care or lost sight, and
developed a mega dolichocolon on chronic retention and gradual degradation of bowel
movements. Finally, the definition of "good or bad results" in terms of continence is variable
depending on the series. Thus, results of the various studies on “fecal continence” conducted
between 1985 and 2000 may vary from 10 to 90% depending on the series and surgical
approaches, figures tending more towards 10-20% continence when the monitoring was
extended [19]. It is interesting to note that low forms of ARM had results on fecal continence
that did not seem better than the higher forms, with 30 to 40% of incontinence [20].
A consensus score was elaborated during the Krickenbeck conference in 2005 to better
evaluate and compare the results [6]. One of the most interesting studies using this score is
the work reported by the German network dedicated to ARM (CURE-Net), on 123 patients of
10 years old in average. It shows that 70% of patients have soilings and that complete
cleanliness is obtained only in 40% of patients with perineal fistula, 24% of those with
vestibular fistula, 17% of those with recto-urethral fistula, no patients having a cloaca. These
results differ from those reported by the A. Peña team of Cincinnati reported a continence rate
of 89%, 64%, 46% and 13-37% respectively [21]. This difference is probably related to
"bowel management program” developed by the Cincinnati team that helps these children to
be, if not continent, at least clean. An English study reported in 2009 similar results to those
reported by A. Peña with a “fecal continence” of 70% in average, ie voluntary bowel
movement [22]. However, therapeutic programs used to achieve these good results it is not
clearly exposed in this study.
During the passage to adulthood, many problems related to the ARM persist, in the
digestive, urological, gynecological and psychological fields. At this particular moment, there
is a major risk of failure in the management and loss sight, as “specialists of adults" are not
trained to the follow-up of these patients, except in the “experts” centers. The physical,
psychological and economic impact of the daily management of incontinence leads to
difficulties in social insertion and particularly in the professional life of patients. A
questionnaire sent to 55 adults aged 18 to 56 years by the CURE-Net German team has shown
that 21 suffered from anal prolapse and 18 had a mega-sigmoïde/mega-colon. Neoanus
stenosis was present in 42% of men and 18% of women and neurogenic bladder in 32% of
men and 18% women. 60% of women and 32% of men had recurrent urinary tract infections
[23]. As regards the quality of life, most studies show an impairment in the quality of life
compared to the control groups [24]. In contrast, we have recently reported in a cohort of 58
adult patients identified in the reference center, that the level of education was higher than in
the general population, but that these patients have sedentary positions of lower level
compared to their qualification. About 80% of these patients had sexual activity, 62% of
women were married and 32% for men. The fertility rate of 1.5 was no different from the
general population [25]. In a recent meta-analysis summarizing the large literature on the
subject, it appears that functional problems are more important in childhood than in
adolescence but in contrast psychosocial issues dominate in adolescence [24].
So it is essential not to create a break in the follow up of these young patients, to prepare
the child to his adult life with his malformation sequellae, and to establish a real teenager's
transition program before performing the transfer toward care departments for adults.
CONCLUSION
The anorectal malformations are serious pathologies that have inherently high risk of
permanent fecal incontinence, possibly associated with urinary disorders. The associated
malformations can be part of complex syndromes in more than half of cases that require
treatment and special and coordinated follow up. The management should be organized in an
expert center to ensure high quality surgery and follow up. Nevertheless, surgical correction
is not enough, and these patients need support in the long term, age-appropriate activities and
to improve their quality of life, which remains highly impaired in the most recent studies.
Disability generated by these malformations is invisible but important, because it affects a
sphere "taboo" of which it is still difficult to speak in our societies. Wandering and isolation
of patients are still important, and can lead to extreme situations, particularly in adulthood.
This requires informing and training adult practitioners to this type of support. Patients with
ARM sequellae should be accompanied all life long, hence the importance of organizing a
transition to adult.
ACKNOWLEDGMENT
Acknowledgments to Dr J.L. Michel, pediatric surgeon, for his drawings of all the
different types of ARM.
REFERENCES
[1] Cuschieri, A., (2001). EUROCAT Working Group. Descriptive epidemiology of
isolated anal anomalies: a survey of 4.6 million births in Europe. Am J Med Genet. 103,
207-15.
[2] Stoll, C., Alembik, Y., Dott, B., Roth, MP., (2007). Associated malformations in
patients with anorectal anomalies. Eur J Med Genet. 50, 281-90.
[3] Zwink, N., Jenetzky, E., Brenner, H., (2011). Parental risk factors and anorectal
malformations: systematic review and meta-analysis. Orphanet J Rare Dis. 17, 6-25.
[4] Kluth, D., Lambrecht, W., (1997). Current concepts in the embryology of anorectal
malformations. Semin Pediatr Surg. 6, 180-6.
[5] Holschneider, A., Hutson, J., Peña, A., Beket, E., Chatterjee, S., Coran, A., Davies, M.,
Georgeson, K., Grosfeld, K., Gupta, D, Iwai, N., Kluth, D., Martucciello, G., Moore, S.,
Rintala, R., Smith, ED., Sripathi, DV., Stephens, DV., Sen, S., Ure, B., Grasshoff, S.,
Boemers, T., Murphy, F., Söylet, Y., Dübbers, M., Kunst, M., (2005). Preliminary
report on the international conference for the development of standards for the
treatment of anorectal malformations. J Pediatr Surg. 40, 1521-6.
[6] Smith, ED., Stephens, FD., (1988). High, intermediate, and low anomalies in the male.
Birth Defects Orig Artic Ser. 24, 17-72.
[7] Aubry, MC., Imagerie prénatale. In: C. Cretolle, Y. Revillon, S. Sarnacki, Les
malformations anorectales. Montpellier, ed. Sauramps medical, 2008:101-110.
[8] Kim, IO., Han, TI., Kim, WS., Yeon, KM., (2000). Transperineal ultrasonography in
imperforate anus: identification of the internal fistula. J Ultrasound Med. 19, 211-6.
[9] McHugh, K. (1998). The role of radiology in children with anorectal anomalies; with
particular emphasis on MRI. Eur J Radiol. 26, 194-9.
[10] Nah, SA., Ong, CC., Lakshmi, NK., Yap, TL., Jacobsen, AS., Low, Y. (2012).
Anomalies associated with anorectal malformations according to the Krickenbeck
anatomic classification. J Pediatr Surg. 47, 2273–8.
[11] Kim, SM., Chang, HK., Lee, MJ., Shim, KW., Oh, JT., Kim, DS., Kim, MJ., Han, SJ.,
(2010). Spinal dysraphism with anorectal malformation: lumbosacral magnetic
resonance imaging evaluation of 120 patients. J Pediatr Surg. 45, 769-76.
[12] Currarino, G., Coln, D., Votteler, T. (1981). Triad of anorectal, sacral, and presacral
anomalies. AJR Am J Roentgenol. 137, 395-8.
[13] Crétolle, C., Pelet, A., Sanlaville, D., Zérah, M., Amiel, J., Jaubert, F., Révillon, Y.,
Baala, L., Munnich, A., Nihoul-Fékété, C., Lyonnet, S, (2008). Spectrum of HLXB9
gene mutations in Currarino syndrome and genotype-phenotype correlation. Hum
Mutat. 29, 903-10.
[14] Pakarinen, MP., Rintala, RJ., (2010). Management and outcome of low anorectal
malformations. Pediatr Surg Int. 26, 1057-63.
[15] deVries, PA., Peña, A., (1982). Posterior sagittal anorectoplasty. J Pediatr Surg. 17,
638-43.
[16] Georgeson, KE., Inge, TH., Albanese, CT. (2000). Laparoscopically assisted anorectal
pull-through for high imperforate anus-a new technique. J Pediatr Surg. 35, 927-30.
[17] Bischoff, A., Levitt, MA., Bauer, C., Jackson, L., Holder, M., Peña, A., (2009).
Treatment of fecal incontinence with a comprehensive bowel management program. J
Pediatr Surg. 44, 1278-83.
[18] Peña, A., el Behery, M., (1993). Megasigmoid: a source of pseudoincontinence in
children with repaired anorectal malformations. J pediatr Surg. 28, 199-203.
[19] Peña, A., Hong, A., (2000). Advances in the management of anorectal malformations.
Am J Surg. 180, 370-6.
[20] Rintala, RJ., Lindahl, HG., Rasanen, M., (1997). Do children with repaired low
anorectal malformations have normal bowel function? J Pediatr Surg. 32, 823-6.
[21] Levitt, MA., Peña, A. Imperforate anus and cloacal malformations. In: Ashcraft KW,
ed. Pediatric surgery, 5th edition. Elsevier Saunders, Philadelphia: 2010: 468-90.
[22] Hassett, S., Snell, S., Hughes-Thomas, A., Holmes, K., (2009). 10-Year outcome of
children born with anorectal malformation, treated by posterior sagittal anorectoplasty,
assessed according to the Krickenbeck classification. J Pediatr Surg. 44, 399–403.
[23] Schmidt, D., Jenetzky, E., Zwink, N., Schmiedeke, E., Maerzheuser, S., (2012).
Postoperative complications in adults with anorectal malformation: a need for
transition. German Network for Congenital Uro-REctal Malformations (CURE-Net).
Pediatr Surg Int. 28, 793-5.
[24] Hartman, EE., Oort, FJ., Aronson, DC., Sprangers, MA., (2011). Quality of life and
disease-specific functioning of patients with anorectal malformations or Hirschsprung's
disease: a review. Arch Dis Child. 96, 398-406.
[25] Mantoo, S., Meurette, G., Wyart, V., Hardouin, J., Crétolle, C., Capito, C., Sarnacki, S.,
Podevin, G., Lehur, PA., (2013). Impact of anorectal malformation sequelae on social
integration in adulthood: Report from a national registry (MAREP). Colorectal Dis. 15,
e330-5.
Chapter 19
MULTICYSTIC DYSPLASTIC KIDNEY DISEASE
Habib Bouthour1, MD, Fatma Trabelsi2

and Nejib Kaabar3, MD, PhD
1
Pediatric Surgery assistant Professor Tunis School of Medecine University El Manar,
Tunis, Tunisia
Pediatric Surgeon Pediatric Surgery Department, Habib Thameur Hospital,
Tunis, Tunisia
2
Pediatric Surgery Resident, Pediatric Surgery Department, Habib Thameur Hospital,
Tunis, Tunisia
3
Pediatric Surgery Professor Tunis School of Medecine University El Manar,
Tunis, Tunisia
Pediatric Surgeon Chief of the department of Pediatric Surgery, Habib Thameur Hospital,
Tunis, Tunisia
ABSTRACT
The multicystic dysplastic kidney disease (MCDK) is one of the most common
malformations of the urinary tract, grouped under the term of Congenital Abnormalities
of Kidney and Urinary Tract (CAKUT) [1]. It must be differentiated from polycystic
kidney disease which is mostly inherited diseases of the cilia proteins. Its incidence is
estimated at one per 4,300 live births [2]. Boys are more commonly affected, with a sex
ratio of 1.48 [3]. The left kidney is more frequently involved (55% of cases) [3]. Bilateral
involvement is rare and lethal [4]. Some forms of MCDK may be familial, but most are
sporadic [5]. The MCDK is nevertheless exceptionally responsible for an end-stage renal
failure (ESRD), the prognosis depends on the contralateral kidney.
Keywords: the multicystic dysplastic kidney, prenatal diagnosis, blood hypertension,

malignancy risk, management, surgery
196 Habib Bouthour, Fatma Trabelsi and Nejib Kaabar
PATHOGENESIS
It is still uncertain. For some authors, it could be the result of early in utero ureteral
obstruction with significant flow anomaly of fetal urine [5]. They reported that nephron
induction with filtrating function occurs before the development of cysts; early fetal urinary
tract obstruction causes cystic formation in the developing nephrons, which subsequently
disrupts nephron induction and tubular development. For others, it could be the result of the
induction of the metanephric blastema default by the ureteral bud [6].
More recently, Spencer and Maizel [7] discovered that alterations in epithelial (ureteral)
and mesenchymal cells by inhibition of glycosylation of the extracellular matrix could induce
dysplasia without obstruction. The results of these experiments with chick embryos support
the theory that dysplasia is the product of a disruption in normal epithelial-mesenchymal
interaction during the induction of renal tubules. This process occurs because of the
interaction between the ureteric bud and the metanephric mesenchyme. Any alteration in this
interaction can result in dysplasia.
Genetic and environmental factors are likely involved, as illustrated by the increased risk
of MCDK in cases of fetal exposure to some drugs (carbamazepine, phenobarbital) [1], in
cases of gestational diabetes [8] or in conditions where a gene polymorphism of the renin-
angiotensin system or the cascade of GDNF (Glial cell line derived neurotrophic factor), such
as PAX2, BCL2 or WT1 is present [6, 9]. The MCDK may also occur in a context of
chromosomal or syndromic anomalies, such as the Wiedemann-Beckwitt Syndrome and
Perlman syndrome [5].
PATHOLOGY
Histological specific features for MCDK are the existence of collections of the primitive
ducts with surrounding smooth muscle condensation, foci of cartilage, fetal/primitive
glomeruli, and primitive tubules [10].
In MCDK grossly there is a loss of reniform shape, and microscopically there is a
presence of primitive ducts, mal-developed nephrons, and cartilage in one-third of the cases
[10].
DIAGNOSIS
Prenatal Diagnosis
The determination is made in the antenatal period in 80% of cases [11, 12] during the
second trimester of gestation.
Multicystic Dysplastic Kidney Disease 197
Postnatal Diagnosis
It can be revealed by a painless abdominal mass in the first months of life or, much more
rarely, by an infection of cysts or hypertension. It can also be discovered in the systematic
assessment of a malformation syndrome. In adults, the diagnosis may be discussed at the
discovery of a single kidney, due to the involution of an MCDK.
RADIOLOGICAL FEATURES
Ultrasound
In the Fetus
Prenatal imaging findings include hypoechoic cysts of variable sizes and shapes,
interfaces between cysts, a non-medial location of large cysts, the absence of an identifiable
renal sinus, a lack of communication between cysts, and minimal surrounding parenchyma.
Only 20% of MCDKs have an identifiable reniform shape [13]. Bilateral MCDK may occur
with oligohydramnios as a result of poor urine production. The cysts of MCDK may become
enlarged, may shrink, or may involute during fetal life [13].
If MCDK is indicated on prenatal sonograms, postnatal ultrasound should be completed
before the patient is discharged home from the hospital.
In Newborns
MCKD appears on ultrasound as multiple noncommunicating cysts of various sizes that
look like a cluster of grapes. The cysts on ultrasound appear as numerous anechoic circular
areas of variable size. The MCDK can be either enlarged or atrophic, and there is a loss of the
regular reniform shape and an absence of normal renal parenchyma. The contralateral kidney
frequently undergoes compensatory hypertrophy [14].
Additional Explorations
When MCDK is diagnosed in the prenatal period and cases of associated extrarenal signs,
the karyotype is recommended at birth [3].
Furthermore, after birth, the initial ultrasound is completed by:
 Voiding cystourethrogram (VCUG) to look for vesicoureteral reflux (present on 11%

to 37% of the cases) [15]. VCUG is not systematic. It is only performed when the
ultrasound shows contralateral anomalies [15], or if the child has a urinary tract
infection, regardless of the presence of mild contralateral hydronephrosis [16].
 A renal scintigraphy which confirmed the mute character or the very weak functional
multicystic kidney and quantified the functional value of the contralateral kidney
[14].
ASSOCIATED MALFORMATIONS
Vesicoureteral Reflux
It’s the most common anomaly found. Controlateral VUR occurs in 11% to 37% of cases
[17].
Ureteropelvic Junction Obstruction
Contralateral ureteropelvic junction obstruction can be present in up to 12% of children

with MCDK, which is increased over the risk in the general population [18].
Others Urinary Tract Malformations
MCDK can be associated with ureterovesical junction obstruction, ectopic ureters, and
ipsilateral obstructing ureteroceles.
Genital Abnormalities
Ipsilateral anomalies of the testes and vas may be related to renal anomalies owing to
their embryologic association with the Wolffian duct. Wolffian duct abnormalities associated
with MCDK disease include absence or ectopia of the ipsilateral vas deferens and cystic
dysplasia of the testis [19].
COMPLICATIONS
Infection
There is no proven definitive correlation between MCDK and increased risk of urinary
tract infection [12]. The concern for increased incidence of infection is mainly due to the
higher rate of abnormalities in the contralateral kidney.
Hypertension
Some authors suggested that the mechanism of hypertension was the ischemia induced by
renin secretion in the juxtaglomerular area of the mature glomeruli and interlobular arteries in
the scarred areas of the dysplastic kidney.
The literature on medical causes of hypertension does not report MCDK as a significant
cause of pediatric hypertension. Numerous small series have shown resolution of
hypertension after nephrectomy [20].
Routine surgical treatment of MCDKs based on the risk of hypertension cannot be

substantiated, but when hypertension is diagnosed in a child with an MCDK, prompt surgical
excision is recommended to ensure the best chance of cure [20].
Malignancy
The UK Cancer Study Registry has documented no cases of Wilm’s tumor in MCDK
kidneys, and a systematic review of 26 studies revealed no cases of Wilm’s tumor in 1041
eligible children [21]. Given these risks of 0.03-0.1% it does not seem advisable to remove
every MCDK for prophylactic reasons [22].
Regression
MCDK involutes at the age of 2 years, with the extremes between 36 days and 13 years.
Occasionally, it regresses prenatally, leaving a ureter with a small nubbin of tissue in the renal
fossa [17].
Regression does not imply cure or eliminate the risk of morbidity associated with MCDK
disease. Some studies have shown that the risk of hypertension is not reduced with regression
[17, 19, 20].
MANAGEMENT
All children with MCDK should be referred to urologist pediatric surgeon and
nephrologist. The appropriate subsequent follow-up for MCDK remains controversial and
debated, with a recent trend toward for nonsurgical management and less frequent
observation. Most MCDKs can be managed without surgery [14]. Nephrectomy remains for
cases of respiratory or gastrointestinal compromise (abdominal distension or poor feeding),
suspicious solid renal mass, or hypertension. Some parents may seek nephrectomy due to
parental anxiety or kidneys that fail to involute during follow-up. In one large series,
nephrectomy was required in less than 7% of children with MCDK [17]. Nephrectomy is well
tolerated in children with low risk of complications and short hospital stay.
FOLLOW-UP
The previous surveillance regimens with frequent ultrasound were based on the false
assumption that the development of Wilm’s tumor was common in children with MCDK. The
plan recommended by Nepple et al. is radiographic follow-up every 12-18 months until
kidney involution, after which radiographic follow-up can be discontinued [14].
Others have recommended less frequent surveillance ultrasound at 2 and five years of age
and then every five years [17]. A consensus has also not been reached regarding the length of
follow-up required, with various groups recommending imaging to age 8, adulthood, or
complete involution. One group recently commented that follow-up ultrasound provides no
clinical benefit and increases parental anxiety and recommended no radiographic follow-up
[23].
However, in those children who have contralateral renal pelvic dilation, follow-up
ultrasound should be obtained more frequently due to the concern for the development of
ureteropelvic junction obstruction.
Blood pressure should be measured at clinic visits to assess for hypertension. While
Nepple et al. recommended continued blood pressure follow-up in all children [14], Aslam et
al. recommended that children with complete involution of the kidney, normal blood pressure,
normal creatinine, and normal urinalysis can be discharged from long-term follow-up [17].
Children with MCDK have a solitary functioning contralateral kidney and should be
counseled to avoid activities that would place that organ at risk. This would include
avoidance of contact sports and high-risk activities [14].
CONCLUSION
MCDK is a renal abnormality that presents with multiple cysts within the kidney. Many
imaging modalities are used to analyze and evaluate MCDK; however, ultrasound is the
modality of choice due to the involution rate of the cystic kidney and because of the prenatal
detection. Asymptomatic patients should be managed conservatively, but a long-term
nephrological and urological observation is recommended to assess the MCDK, and the
contralateral kidney and urinary tract.
REFERENCES
[1] Carta M, Cimador M, Giuffre’ M et al. Unilateral multicystic dysplastic kidney in
infants exposed to antiepileptic drugs during pregnancy. Pediatr. Nephrol. 2007;22:
1054-7.
[2] Gordon AC, Thomas DF, Arthur RJ et al. Multicystic dysplastic kidney: is nephrectomy
still appropriate? J. Urol. 1988;140 (5 Pt 2):1231-4.
[3] Bacchetta J, Liutkus A, Dodat H et al. Dysplasie rénale multikystique: mise au point et
information pour les parents lors du diagnostic antenatal [Multi-cystic renal dysplasia:
development and information for parents during prenatal diagnosis]. Archives de
Pédiatrie 2008;15:1107-1115.
[4] Mitsioni A, Jankauskiene A. Cystic dysplasia. In: Cochat P, editor. European Society of
Pediatric Nephrology Handbook. Lyon: Medcom; 2002. p. 179-81.
[5] Woolf AS, Price KL, Scambler PJ et al. Evolving concepts in human renal dysplasia. J.
Am. Soc. Nephrol. 2004;15:998-1007.
[6] Cochat P, Bandin F. Hypoplasies et dysplasies rénales [Hypoplasia and renal
dysplasia]. In: Cochat P, Aigrain Y, editors. Les malformations de l’appareil urinaire
[Malformations of the urinary tract]. Paris; 2002. p. 113-20.
[7] Spencer JR, Maizel M. Inhibition of protein glycosylation causes renal dysplasia in the
chick embryo. J. Urol. 1987; 138:94.
[8] Woolf AS. Unilateral multicystic dysplastic kidney. Kidney Int. 2006;69: 190-3.
[9] Yerkes E, Nishimura H, Miyazaki Y et al. Role of angiotensin in the congenital
anomalies of the kidney and urinary tract in the mouse and the human. Kidney Int.
Suppl. 1998;67:S75-7.
[10] Rukmangadha N, Chowhan AK, Patnayak R et al. Multicystic dysplastic kidney-a
retrospective study with clinicopathological correlation. J. Clin. Sci. Res. 2013;2:88-93.
[11] Rios H, Santos R, Gomes C et al. Multicystic dysplastic kidney: a review of eleven
years (2000-2010). Port. J. Nephrol. Hypert. 2012; 26 (1): 000-000.
[12] Kuwertz-Broeking E, Brinkmann O.A, Von Lengerke H.J et al. Unilateral multicystic
dysplastic kidney: experience in children. BJU International 2004; 93: 388-392.
[13] Whittam BM, Calaway A, Szymanski KM et al. Ultrasound diagnosis of multicystic
dysplastic kidney: is a confirmatory nuclear medicine scan necessary?. J. Pediatr. Urol.
2014 Dec. 10 (6):1059-62.
[14] Nepple K.G. and Cooper C.S. Multicystic Dysplastic Kidney Kenneth G. Pediatric
Urology for the Primary Care Physician, Current Clinical Urology, Springer Science +
Business Media New York 2014.
[15] Eickmeyer AB, Casanova NF, He C et al. The natural history of the multicystic
dysplastic kidney – is limited follow-up warranted? Journal of Pediatric Urology 2014;
10(4):655-661.
[16] Tiryaki S, Alkac AY, Serdaroglu E et al. Involution of multicystic dysplastic kidney: is
it predictable? J. Pediatr. Urol. 2013;9:344-347.
[17] M Aslam, A R Watson, on behalf of the Trent and Anglia MCDK Study Group
Unilateral multicystic dysplastic kidney: long term outcomes Arch. Dis. Child. 2006;91:
820-823.
[18] Glassberg KI. Renal dysgenesis and cystic disease of the kidney. In: Wein AJ, Kavoussi
LR, Novick AC, Partin AW, Peters CA, editors. Campbell-Walsh urology, vol. 4. 9th ed.
Philadelphia: Saunders; 2007. p. 3305-58. Chap. 114.
[19] Gearhart JG, Rink RC, Mouriquand PDE. Pediatric Urology 2nd ed. 2010. P. 228-35.
[20] LaSalle MD, Stock JA, Hanna MK. Insurability of children with congenital urological
anomalies. J. Urol. 1997;158(3 Pt 2):1312-5.
[21] Narchi H. Risk of Wilm’s tumour with multicystic kidney disease: a systematic review.
Arch. Dis. Child. 2005;90:147-9.
[22] Beckwith JB. Should asymptomatic unilateral multicystic dysplastic kidneys be
removed because of future risk of neoplasia? Pediatr. Nephrol. 1992; 6: 511
[23] Onal B, Kogan BA. Natural history of patients with multicystic dysplastic kidney-what
followup.
Chapter 20
PRENATAL UPPER URINARY TRACT DILATATION
Claire Raquillet1, MD, Samer Bostane2,3, MD

and Taieb Chouikh1,4,5, MD
1
Division of Pediatric Surgery, Hopital Robert Ballanger, Aulnay sous Bois, France
2
3
Al Najah National University, Nablus, West Bank, Palestine
4
5
Department of Paediatric Surgery, Hôpital Universitaire Necker-Enfants Malades,
Paris, France
ABSTRACT
In Europe, prenatal uropathy is found in 3,1 over 1000 live birth [1]. This is a
common cause for prenatal consultation for a specialist in fœtal medicine or pediatric
surgeon. The aim of this chapter is to introduce the management of prenatal cases of
upper tract dilation.
Keywords: prenatal uropathy, hydronephrosis, Ureteral Pelvic Junction Obstruction,

megaureter, management, follow up, surgery inidcations
PRENATAL DIAGNOSIS
In theory, early detection of an anomaly represents an opportunity to modify the natural
history of a disease whose diagnosis was classically postnatal. There is not, to date
randomized trial evaluating the impact of prenatal screening on the fetus suffering from
uropathies [2].
With the prenatal diagnosis, management of Upper Urinary Tract Dilation (UUTD)
profoundly changed. The resultant of prenatal diagnosis is the identification of a vast number
of asymptomatic upper tract dilation. Then physicians have developed various tools to
204 Claire Raquillet, Samer Bostane and Taieb Chouikh
understand the significance of hydronephrosis and to better define obstruction. Dilation often
improves or resolves spontaneously, which questions the necessity of surgical treatment.
The benefit of prenatal screening is not clearly understood. However, morbidity related to
urinary tract infections in the new-born and the child can be lower using this screening, and
can be considered as a benefit. Thus, early identification of uropathy also allows: to perform
the most appropriate parental advice, to offer in very rare cases fetal therapy, to consider a
prenatal adapted care courses, to prevent urinary tract infections, and surveilled renal function
[3].
Fetal Ultrasound
Ultrasound has a high sensitivity for the diagnosis of the renal hydronephrosis, and the
goal would be to identify those in utero with a high risk of worsening. Prenatal Upper Urinary
Tract Dilation is the most frequent anomaly seen in the prenatal ultrasound [4].
Ultrasound can diagnose:
 Hydronephrosis, caliceal expansion, ureterohydronephrosis,

 Duplex collecting system, urinoma,
 Unusual number, position, or rotation of the kidneys,
 Abnormal kidney size,
 Increased echogenicity of the renal parenchyma,
 Thin renal parenchyma, cystic parenchyma,
 Megacystis, ureterocele,
 Oligo-hydramnios.
Fetal MRI
The contribution of the fetal magnetic resonance imaging MRI is more iconographic than
helping in the diagnosis. It’s recommended in certain complex cases:
 With duplex collecting system and dilatation on several ureters

 To diagnose genital anomaly associated to uropathy in girls
 To detect kidney cysts and in the diagnosis of megacystis [5].
Hydronephrosis diagnosed on the second trimester have a half chance to disappear, and
less than 5% of them require surgery [6]. The degree of hydronephrosis is strongly linked to
the need for surgery [7].
Congenital uropathy is associated in 17% of cases with other malformations [8]. Among
the syndromic conditions, we can mention some of them:
 Fraser syndrome: renal agenesis, a cryptophthalmos and syndactylies,

 Kabuki syndrome has cardiac anomalies,
 Acronym VACTERL reached several organs,
Prenatal Upper Urinary Tract Dilatation 205
 Syndrome EEC: Ectodermal dysplasia Ectrodactyly and Clefting with facial defects
with ends and slots,
 Syndrome of Schinzel Giedion with heart defects and facial dysmorphia and
malposition of the feet.
Prenatal urinary diversion is exceptional and reserved for cases with massive
hydronephrosis, ascites urinoma even sometimes pleural with a pleural compressive effusion.
Laboratory Tests
Prenatal evaluation of kidney function is indicated only in case of early diagnosis with
bilateral ureteropelvic dilation with megacystis, oligohydramnios or increased echogenicity of
the renal parenchyma, thin renal parenchyma, cystic parenchyma.
Fetal urine sodium greater than 100 mEq/L, osmolarity greater than 210 mOsm, protein
greater than 20 mg/d and or β2-microglobulin greater than 4 mg/L represents bad prognostic
predictor.
To Summarize, causes of prenatal uropathy are in:
 40 to 80% transient pelvic dilatation,

 10 to 30% ureteropelvic junction obstruction (UPJO),
 10 to 20% vesicoureteric reflux,
 5 to 10% megaureter,
 4 to 6% multicystic kidney,
 5 to 7% duplex collecting system,
 1 to 2% posterior urethral valves,
 Other rare conditions: Prune Belly, megalourethra, megacystis.
MANAGEMENT AND NEED FOR SURGERY

Symptomatic and asymptomatic forms are not managed in the same way. In this chapter,
we did not include the symptomatic forms. Making the difference between hydronephrosis
and hydroureteronephrosis is necessary. The explorations will seek to determine which of
these UUTD are obstructive. We develop here the two commonest obstructive uropathies:
Ureteral Pelvic Junction Obstruction (UPJO) and Megaureter.
Ureteral Pelvic Junction Obstruction (UPJO)
Obstruction may be defined as any restriction to urinary flow that, if untreated, will injure
the kidney. This definition is useful clinically, but it requires regular evaluation to look for
improvement or deterioration of renal function.
Need for Post-Natal Evaluation?
A meta-analysis suggests that even the weakest Prenatal Hydronephrosis (>4mm) should
be explored [9].
The Need for Surgery?
The degree of pelvic enlargement correlates with the presence of an obstruction, but
cannot be used to diagnose obstruction. The postnatal Ultrasound is the first performed
imaging tool for identifying and for confirming the prenatal hydronephrosis in infancy. The
Obstruction risk increased with pelvic expansion.
Did the Prenatal Ultrasound Have a Predictive Value?
According to the dilation, we can distinguish between three types of situations:
Mild Moderate Severe

nd
2 trimester 4-7mm 7-10mm >10mm [6]
3nd trimester 7-9mm 9-15mm >15mm
Rate of obstructed UPJO 4,9% 17% 54,3% [9]
Other predictive features can help to hypothesize the evolution of the prenatal
hydronephrosis such as Caliceal dilatation, the thickness of the renal parenchyma, an
increased echogenicity of the renal parenchyma, cystic appearance parenchyma, urinoma.
And the conception age at the moment of the diagnosis (earlier the diagnosis is made, worst
will be the evolution).
After Birth
SFU Description Grade

1. Slight splitting of the central renal complex without calyceal involvement, normal
parenchyma
2. Splitting of the central renal complex with extension to non-dilated calyces
3. Wide splitting of the renal pelvis, dilated outside the renal border, calyces uniformly
dilated, normal parenchyma
4. Large, dilated calyces (may appear convex); thinning of the parenchyma to 50% of the
ipsilateral (normal) kidney
To improve its reliability grade 4 was divided into 2 groups 4A 4B depending on whether thinning
parenchyma is segmental or diffuse. Grades 1 and 2 are considered low-grade 3 and 4 high grade
[12]
The postnatal resolution rate of prenatal hydronephrosis fluctuates between 30 and 60%.
Commonly, low grades hydronephrosis are resolved within 18 months. An increase of the
dilation is reported early after birth [10]. In cases where the hydronephrosis is more than 40
mm of expansion, surgery will mostly be required [3].
Hydronephrosis on postnatal ultrasonography are classified by the “Society for Fetal
Urology” SFU [11]:
Ultrasound is not a reliable tool to prove the obstructive character. Hydronephrosis may
fluctuate especially during the first week of life. Therefore, the only way to use
ultrasonography meaningfully at this age is to perform serial measurements. Progressive
increase of the dilation usually indicates an obstruction, whereas improvement indicates the
opposite [13].
MAG3 Renography
Diuretic renography with MAG3 (mercapto-acetyl-triglycine) isotope is a gold standard

method to diagnose obstruction. In the immature new-born kidney, a delay to washout is
usual even without obstruction caused by a combination of diminished glomerular and tubular
function, which produces an inadequate response to diuretic.
Figure 1. Society of Fetal Urology (SFU) Grading of Hydronephrosis. Renal ultrasound scans
representing the Society for Fetal Urology (SFU) grading schema. A, SFU grade 1 hydronephrosis. B,
SFU grade 2 hydronephrosis. C, SFU grade 3 hydronephrosis. D, SFU grade 4 hydronephrosis
(Courtesy Children’s Hospital of Wisconsin, Milwaukee).
After this period, between 4-6 weeks of life, renal pelvis is very compliant with a marked
increase in volume associated with the sudden fluid load due to diuretic stimulation. This
fluid naturally will necessitate greater time for drainage and thus prolonged “washout curves”
even in the absence of obstruction.
For these reasons a delayed washout pattern on an isolated renogram is invalid as the sole
indicator of obstruction [14].
Standardized technic was published in 1992 [15]. The authors emphasize the importance
of hydration, the emptiness of the bladder, the time of injection of the diuretic and data
acquisition and interpretation, to compare successive renograms. A quick drainage will
exclude obstruction.
The primary role of diuretic renography should be the evaluation of the differential renal
function. For many authors, an initial poor function lower 35 or 40% of differential renal
function is an argument for early pyeloplasty. Serial measurements will help to determine if
renal function is improving or deteriorating. If sequential measurements indicate that renal
function is either declining or failing to improve as expected, then obstruction is likely to
present and should be corrected surgically.
MRI Urography
Urography MRI provides both differential function evaluation and detailed anatomical
information while. Renal toxicity of gadolinium before the age of one year with the risk of
nephrogenic systemic fibrosis encourage to perform this exam more and more [16], but the
MRI is still available only in some centers [17, 18].
The study of the urinary proteome of children with UPJO can identify an obstruction
requiring surgery. This is mainly useful for children under one year. Randomized studies
suggest that 19-25% of children with prenatal renal hydronephrosis will need surgery.
Surgical Management of Ureteral Pelvic Junction Obstruction (UPJO)
Different Anglo-Saxon authors had a non-operative attitude in cases of normal or low

initial function and described less loss in function 3,5-14% [19, 20, 21]. Koff reported a case
of a spontaneous improving in the renal function in case of UPJO with initially decreased
function [21]. These last reports suggest that hydronephrotic kidneys in new-borns tend to
show rapid improvement in differential function during the first year of life. But the price of
this attitude is an increased close follow-up to prevent loss of function reported in 15% of
cases.
In the aim of avoiding this loss of function, others suggest performing an early
pyeloplasty (before the age of one year). This management is accompanied by a significant
recovery of differential renal function [22, 23]. Some propose not to wait until the stage of
renal function worsening before considering the surgical repair. It is well known that
pyeloplasty does not improve renal function. It must be clearly mention that detailed to the
parents. But, when surgery is performed in followed cases after a drop in the renal function,
we can expect a recovery of the renal function to the baseline values and even improve [24,
25].
Consensus begins to emerge for UPJO management [6]. Guidelines for the management
of UPJO are as followed [3]:
 In cases of isolated pelvic dilation < 15mm, asymptomatic cases, cases with normal
renal function: no need for surgery
 The presence of an associated caliceal dilation (2%): surgery
 Pelvic Dilatation > 20mm or SFU 45-55%: surgery
Pyeloplasty can correct UPJO with high rates of success and with minimal morbidity. In
the pediatric population, a dismembered repair as described by Anderson and Hynes is
preferable to a flap-type maintaining the fibrous segment. A posterior approach is indicated in
young children. In older children, pyeloplasty can be performed via either a laparoscopic or
retroperitoneoscopic approach. With these procedures, identical success rates are described to
standard open pyeloplasty. The main disadvantage is the long learning curve necessary to
master technically challenging reconstructive and suturing techniques [26].
The need and type of drainage remain controversial. Complications of pyeloplasty
include extravasation, urinoma, and persistent obstruction. The overall re-operative rate is
quite low at approximately 5%.
In intermittent UPJO related to lower pole aberrant vessels, transposition of the vessels
away from the UPJ and fixation of these vessels to the anterior pelvis without any formal
pyeloplasty being performed [27]. A very accurate selection of patients who could benefit
from this controversial procedure should be conducted. Endopyelotomy was described with a
high rate of success, approaching 100%, after failed open pyeloplasty but few pediatric
surgeon or radiologist can perform this technique [28].
Megaureter
We will develop only the management of obstructive megaureter. As for UPJO, the
management of megaureter changed in the last 20 years. Most of the children with
hydroureteronephrosis had a prenatal diagnosis. The ureter is considered “mega” from the
time its diameter exceeds 5mm. This term is applied to congenital dilated ureter above a
narrow end which connects it to a healthy bladder without obstruction in the bladder [29].
King [30] proposed a classification of hydroureteronephrosis:
Megaureter is four times less common than UPJO. More frequent in male children 4/1
and at the left side, bilateral in 25% cases. There is an ipsilateral kidney dysplasia in 10%
cases.
Prenatal diagnosis is the most frequent mode of revelation, but symptomatic forms are
not uncommon. Infection is more common than in UPJO. Urinary stones may complicate
long-term evolution; hematuria can be associated to megaureter.
Ultrasound and MAG3 renography are the two reference tests to diagnose and monitor
the megaureter. In assessing the megaureter, bladder emptying effect on renal and ureteral
stasis is more important than in UPJO. During the MAG3 renography, we must wait until the
urination occurs which can promote a prompt drainage of the ureter. The uro-MRI is a good
test to assess megaureter. However, the necessary immobility during the acquisition phase
makes this exam difficult between the age of 6 months and six years. VesicoCystoUretero-
Graphy VCUG is recommended in bilateral cases.
Obstruction is defined like UPJO when an impact on the initial kidney function or a
decline of more than 5% of it during follow-up is reported.
Antibio-prophylaxis is required in the first year since the infection is common in cases of
megaureter (48%) [31].
Only 20% of the children will need surgery, indicated in the presence of infections or
worsening of the renal function of increase of the ureteral dilation [32]. When the diameter of
the ureter < 8mm most of the cases will improve spontaneously, over 15 mm the resolution is
less common [31].
Surgical Management
The mainstay of surgical treatment for obstructive megaureter involves an excision of the
stenotic ureteral segment, a reduction of the caliber of the dilated distal ureter (ureteroplasty)
and ureteral reimplantation.
Eight to 10 days stent is necessary in the case of tapering. The multi-perforated ureteral
catheters are preferable.
The first short-term complication is urinary extravasations. This is more likely with an
excisional repair and may be prevented by the placement of a ureteral stent. Long-term
complications include reflux if the detrusor, if the tunnel length was inadequate or if there is a
retraction of the ureteral orifice. A persistent obstruction is due more likely to an angulation
of the ureter at its entrance into the bladder or to an ischemic stricture of the distal ureter.
Some neonatal megaureters are very severe with ureter-pyonephrosis requiring urgent
drainage. Sometimes urethrostomy is a lifesaving solution left to know.
The temporary drainage double J stent is sometimes necessary for the first year of life to
open bladder sometimes by the difficulty of retrograde catheterization [33]. Double J stent
can be left six months.
Figure 2. King’s proposed classification of hydroureteronephrosis.

Expansion techniques using the endoluminal balloon to dilate the fibrous narrowing of
the megaureter are currently described with encouraging results.
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using half-time or pelvic excretion efficiency is not a sign of obstruction in children
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[29] Williams D. I., Hulme-Moir I. Primary obstructive mega-ureter. Br J Urol. 1970
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Feb;123(2):222-3.
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86.
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prenatally diagnosed primary megaureters. J. Urol. 1994; 152(2 Pt 2):614-617.
[33] Castagnetti M., Cimador M., Sergio M. et al. Double-J stent insertion across
vesicoureteral junction - is it a valuable initial approach in neonates and infants with
severe primary non-refluxing megaureter? Urology. 2006 Oct;68(4):870-5.
Chapter 21
VESICOURETERAL REFLUX
Chaima Mrad1, MD, Taieb Chouikh2,*, MD,

1
Sousse School of Medicine Ibn Al Jazzar University Sousse Tunisia
Tunis School of Medicine, University El Manar Tunisia
Department of Paediatric Surgery, Hôpital Universitaire Necker-Enfants malades
Hospital, 149 rue de Sevres, 75015 Paris, France, Hopital Robert Ballanger Bd Robert
Ballanger 936020, Aulnay sous bois France
3
Tunis School of Medicine University El Manar. Tunis –Tunisia
ABSTRACT
Vesicoureteral reflux (VUR) refers to the retrograde passage of urine from the
bladder into the ureter. The aim of the management in this pathology is to prevent from
the acquired part of the reflux nephropathy, and to reduce the morbidity of the repeated
infection of the urinary tract, based on endoscopic or surgical procedures.
Keywords: vesicoureteral reflux, prenatal diagnosis, urinary tract infection, reflux

nephropathy, antibioprophylaxis, surgery, endoscopic injection
PATHOPHYSIOLOGY
Primary Reflux
The normal vesicoureteral junction UVJ is characterized by an oblique entry of the ureter
into the bladder and a length of submucosal ureter providing a high ratio of tunnel length to
ureteral diameter. This anatomic configuration provides passive valve mechanism [4].
Therefore, when the intramural tunnel length is short, urine tends to reflux up into the ureter.
*
Corresponding author: [email protected].
Secondary Reflux
VUR is secondary when high pressure in the bladder causes a breakdown of the normal
antireflux mechanism at the ureterovesicular junction, which may occur in children with
posterior urethral valves or neurogenic bladders [1].
EPIDEMIOLOGY GENETIC
VUR is believed to be present in 1% or less of normal children, although the incidence is
likely to vary depending on the age of screening because VUR often resolves over time. Most
cases of VUR are diagnosed after occurrence of a urinary tract infection (UTI) [2]. In children
with UTIs, the reported frequency of VUR varies from 20% to 40% [3, 4]. The widespread
use of prenatal ultrasound has led to frequent detection of antenatal hydronephrosis,
approximately 10% to 20% of these children have VUR [5–6]. Patients who have prenatally
detected VUR have higher grade VUR than children detected after a UTI. Approximately
80% of these infants are boys, and a significant percentage have associated severe renal
damage [5, 7]. These children are at less risk for developing subsequent UTIs than children
who are diagnosed with VUR after a UTI [8].
Some studies suggest an autosomal dominant inheritance with variable penetrance,
although no specific genetic loci has been defined [7, 9]. This finding is dramatically
illustrated by the high incidence of reflux in siblings and offspring of patients who have VUR
[10-11], which has led according to some authors to the recommendation of screening
children who have a first-degree relative with VUR [12, 13].
CLASSIFICATION
VUR is graded according to the international classification system depicted in Figure 1
[14].
 Grade I: VUR does not reach the renal pelvis.

 Grade II: VUR extends up to the renal pelvis without dilation.
 Grade III: Mild or moderate dilation of the ureter and the renal pelvis. No or slight
blunting of the fornices.
 Grade IV: Moderate dilation of the ureter, renal pelvis, and calyces. Complete
obliteration of the sharp angle of the fornices but maintenance of the papillary
impression in most calyces.
 Grade V: Gross dilation and tortuosity of the ureter. Gross dilation of the renal pelvis
and calyces. The papillary impressions are not visible in most calyces
Vesicoureteral Reflux 217
Figure 1. The international grading system for vesicoureteral reflux [14].
DIAGNOSTIC AND SCREENING PROTOCOLS

Reflux is a silent condition in so far as it rarely gives rise to symptoms unless there is
some complicating factor such as infection or impaired renal function. It cannot be detected
or even suspected by physical examination or by a simple test. Most reflux is detected after
radiological screening tests in infants after a urinary tract infection or when diagnosed with
hydronephrosis antenatally. Older children with recurrent urinary tract infections and renal
scarring also have reflux in a one third of cases [15].
Reflux Nephropathy
Reflux nephropathy refers to the focal renal scarring seen in individuals with recurrent,
acute pyelonephritis and vesicoureteric reflux. Wedge-shaped scars can be seen
macroscopically as depressed, shrunken fibrosed areas with a characteristic histological
appearance. More recently, with the use of antenatal ultrasound scanning, a condition
sometimes named “fetal reflux nephropathy” has been recognised. This refers to the renal
dysplasia associated with vesicoureteric reflux, present from birth and more common in males
[16]. There is ample evidence to demonstrate the development of the classic radiological
wedge-like appearance of scars following recurrent infection during childhood, particularly
when there are delays in making the diagnosis or starting treatment [17]. Reflux is present in
around 50%–80% of these cases [18].
The primary goal of imaging is to identify the retrograde passage of an imaging contrast
material from the bladder to the ureter and renal pelvicalyceal system. Imaging includes an
anatomic evaluation of the kidney and bladder as well as a functional study to identify the
presence of VUR.
Renal and Bladder Ultrasound [RBUS]
RBUS is an ideal screening tool as it is inexpensive, non-invasive and uses no radiation.

Most clinicians use RBUS as a barometer in deciding who should have a Voiding
cystourethrogram. Unfortunately, it is insensitive in the detection of both vesicoureteric reflux
and scarring. Although the clinical significance of minor scars missed on ultrasound scanning
is not known and may not be important, there is anecdotal evidence of significant
vesicoureteric reflux and scarring having been missed in some cases [9]. Ultrasound is most
useful for the exclusion of obstruction and to confirm the presence and normal position of the
kidneys. Size can be easily measured; significantly scarred kidneys tend to be smaller than
normal kidneys but may not always fall outside the centiles [18].
Voiding Cystourethrogram (VCUG)

VCUG is the standard diagnostic approach, which gives information about the anatomy
of the renal tract as well as the severity of the reflux. (Figure 2-3)
VCUG is able to diagnose posterior urethral valves and bladder abnormalities. The
disadvantages include radiation exposure and the need for catheterization. Radionuclide
cystography, which also requires catheterization, has excellent sensitivity for detecting VUR
and a much lower radiation exposure than a VCUG, but direct radionuclide cystography does
not provide precise grading or anatomic detail.
Figure 2. Grade I VUR.
Figure 3. Grade V vesicoureteral reflux.

99mTc DMSA Renal Scintigraphy

This is the preferred test for the detection of renal scarring. Affected areas of cortex are
recognized as areas of poor isotope fixation (Figure 4). Acute pyelonephritis causes transient
changes, which are often indistinguishable from the permanent changes seen with reflux
nephropathy. The test must therefore be carried out at least 3 months after resolution of any
infection if it is used to assess renal scarring.
Permanent renal scarring develops at sites identified during acute infection. It is a very
sensitive test and appears to detect some scars that are not seen at intravenous urography or
on ultrasound [18]. Renal scars develop in about 13% of girls and 5% of boys with
unspecified infection [31], they develop in up to 43% of kidneys involved in acute
pyelonephritis. Pyelonephritic scarring is responsible for 11% of cases of childhood
hypertension. Although hypertension is most common with bilateral scarring, it is also seen
with unilateral scarring. Pyelonephritic scarring is also an important cause of end-stage renal
failure in childhood and may require specific pre-transplantation treatment, especially if
associated with reflux. Additionally, approximately 50% of patients will suffer from recurrent
UTIs [19].
The DMSA scans in neonates with high grade congenital vesicoureteric reflux often show
a reduction in tracer uptake without focal scarring present, sometimes referred to as global
scarring or renal hypoplasia. In clinical practice it is often impossible to distinguish between
congenital renal hypoplasia and acquired focal scarring.
Cysto Sonography
Another modality gaining popularity in some centers is ultrasonic cystography to detect
reflux. Modern transducers coupled with the use of echo-enhancing contrast agents can image
reflux well in older children [20, 21, 22, 23], but the technique remains of limited use in
neonates [24]. Furthermore, while radiation exposure is eliminated, bladder catheterization
remains a necessary feature with this approach.
The 2011 revised American Academy of Pediatrics (AAP) Guidelines on the
management of UTI recommends a VCUG following recurrent febrile UTIs or a renal/bladder
abnormality on ultrasound showing hydronephrosis, hydroureter or evidence of renal scarring
[25].
Figure 4. Renal scars at the DMSA Scintigraphy.

Once the diagnosis of VUR is established on VCUG, VUR is categorized or graded in

severity by the degree of ureteral dilation on VCUG.
As an alternative to the traditional approach of early VCUG testing in the diagnostic
evaluation, some clinicians propose a “top-down” approach. The rationale for the top-down
approach is that only VUR that results in pyelonephritis is clinically relevant. With the
knowledge that only pyelonephritis leads to renal scarring, and referencing to the AUA
guidelines, DMSA imaging is recommended in the setting of an abnormal renal ultrasound
after a febrile UTI or an elevated serum keratinize [26].
Those with a negative exam would require no further evaluation unless recurrent UTI
was noted. However, the VCUG would be performed upon those with confirmed, focal areas
of poor isotope fixation on DMSA.
The advantage of the top-down approach is that the patients with abnormal DMSA
findings would be selectively evaluated, as the majority of those with VUR and a febrile UTI
do not develop renal scarring. By targeting an at risk cohort for a VCUG, a segment of
children with UTI would be shielded from the morbidity of further screening and potential
treatment.
NATURAL HISTORY
VUR spontaneously resolves in most patients, probably secondary to an increase in the
intramural length of the ureter caused by normal growth. The grade of reflux is the most
important predictor of outcome; higher grade reflux is less likely to resolve. The reported rate
of VUR resolution varies. For grades I and II, reflux eventually ceases in more than 80% of
affected ureters, with a resolution rate of 10% to 25% per year [27]. Grade III reflux resolves
in more than 50% of cases, and grade IV VUR resolves in approximately 30% of cases [28].
Grade V reflux is unlikely to resolve spontaneously [29]. In a study from Sweden, 50% of
children with grades I, II, and III–V VUR were free from reflux in 2, 5, and 8 years,
respectively [27]. Given the questionable significance of grade I VUR, this study also
examined the rate of grades II–V VUR reaching the endpoint of either no reflux or grade I
reflux. This endpoint occurred in 83% of children with grade II VUR and in 73% of children
with grades III–V VUR [27].
VUR resolves faster in children diagnosed before 1 year of age, and reflux that is
diagnosed based on an abnormal prenatal ultrasound has an increased likelihood to resolve,
even when it is grade IV or V. One study suggested that VUR is less likely to resolve when
diagnosed after age 7 years [30], and another study argued that the longer VUR has been
present, the less likely it is to resolve [31]. Bilateral reflux resolves at a slower rate than
unilateral reflux. Resolution of reflux is decreased in children with severe scarring [32] or
duplex systems. Children who have bladder dysfunction are at increased risk for UTIs and
persistence of VUR [33]. Traditionally, follow-up imaging for VUR resolution has occurred
yearly. In 2005, an analysis recommended a less aggressive approach, however, with imaging
every 2 years in children with grades I and II VUR and children younger than 2 years old who
have unilateral grade III. Older children with grade III and all children with grade IV VUR
should be imaged every 3 years [34].
MANAGEMENT
Antibiotics: [35]
The principal rationale for antibiotic use in the management of reflux is in the prevention
of urinary infection, principally febrile pyelonephritis, which may lead to permanent post-
infection renal scarring. Driving this rationale in part is the belief that the first febrile UTI, in
the presence of reflux, will create the greater proportion of clinically significant post-infection
scarring, despite the fact that this concern is based on models of post-infection scarring in
experimentally induced reflux in animals with a priori normal renal development [36]. This
belief, in turn, spawned the now routine and widespread sonographic follow-up of prenatal
hydronephrosis for evidence of postnatal hydronephrosis, which, if present, then triggers the
documentation of reflux by cystography in order to prevent the first febrile UTI by instituting
immediate antibiotic prophylaxis if reflux is found.
However, several recent prospective studies have brought into question the ability of
chronic low-dose antibiotic prophylaxis to prevent UTI in children. For example, in children
with grade 2 to 4 reflux, following an initial UTI, randomization of 50 patients each to
antibiotic prophylaxis versus no treatment groups showed no difference in the rate of
subsequent UTI or renal scarring [37]. One multicenter trial of 225 children with reflux aged
1 to 3 years, randomizing subjects to antibiotic prophylaxis versus no treatment, found no
statistical overall reduction in UTI incidence with prophylaxis, although subset analysis did
suggest some benefit in boys with grade 3 reflux [38]. As a corollary, patients with ongoing
reflux in whom prophylactic antibiotics have been withdrawn have not suffered any increased
incidence of UTI when compared with age matched refluxing control patients who remain on
prophylaxis [39]. Similarly, patients who have failed endoscopic reflux correction and remain
uncorrected fail to show any increased incidence of UTI whether they remain on prophylaxis
or not [39].
When added to the underlying concern for the long-term use of antibiotics in general,
studies that bring into question the efficacy of antibiotic prophylaxis are giving rise to reflux
management alternatives. Where low-dose antibiotic prophylaxis may be of questionable
value, the effectiveness of appropriate full-dose antibiotic treatment of UTI by eliminating
fever and symptoms of acute illness, as well as eradicating the infection, is not in question.
Therefore one alternative is close observation for UTI symptoms without prophylaxis,
coupled with precise treatment of culture-proven UTI.
Surgery
The established surgical principles of successful ureteral reimplantation include (1)

adequate ureteral exposure and mobilization, (2) meticulous preservation of the blood supply,
and (3) creation of a valvular mechanism whose submucosal tunnel length to ureteral
diameter ratio exceeds 4:1. These goals can be attained by a variety of procedures.
Any classic vesicoureteral reflux surgery technique shows high efficiency with low
morbidity. The two main approaches differ to whether the bladder is opened (intravesical) or
not (extravesical). The latter (Lich-Gregoir Technique) approach is associated with less
morbidity, but its success depends on the experience of the surgeon.
The refluxing ureter is dissected extravesically and reimplanted in a trough created by
separating the muscularis and exposing the bladder mucosa. The distal portion is advanced
and immobilized toward the bladder neck. The muscularis is then reapproximated over the
ureter. Patients may be discharged 1 or 2 days postoperatively. Lich-Gregoir technique
reports a resolution rate of VUR close to 95% [40], similar to those reported in the large
series in which success rates vary from 95% to 98% in VUR grade I–IV, and is around 80%
in VUR grade V. The success achieved with open technique has been replicated by
laparoscopic approach (with complete resolution of VUR in all cases). This technique is not
contraindicated in patients with double ureters. Patients with double-ureters may be
successfully treated with laparoscopic approach [40]. Moreover, some authors reported that
this is the technique of choice for the conjoint reimplantation of the double ureters in their
common sheath. The advantages of laparoscopic Lich Gregoir reimplantaion includes:
Minimal ureteral manipulation, Lower risk of meatal stenosis, Easy dissection of the tunnel,
Eventual management of meatus size (string) in same position, Eventual ease of endoscopic
tutors techniques [40].
The COHEN procedure is the most common one of the intravesical procedure. This
approach rely on an intravesical ureter dissection, a submucosal tunnel is then made, and the
dissected ureter is pulled through the submucosal tunnel, the ureter is reimplanted across the
trigone toward the contralateral ureter and the ureteral orifice is sutured to the bladder (Figure
5). The success rate approaches 98%. The most serious complication consists of
ureterovesical junction obstruction that may require a reoperation [64].
On a retrospective study [41] compared the results of three surgical procedures for
correction of pediatric vesicoureteral reflux (VUR): open Cohen, laparoscopic Lich-Gregoir
reimplantation (LEVUR), and endoscopic subureteric injection (STING) procedure. Open
Cohen and LEVUR reported a higher success rate than STING procedure. However, Cohen
procedure had a very long and painful hospital stay, more complications, more analgesic
requirements compared to STING and LEVUR. Comparing the three techniques, it seems that
LEVUR presents a high success rate similar to the Cohen procedure, but in addition, it
presents the same advantages of STING procedure with no postoperative pain and a lower
postoperative morbidity.
Endoscopic Injection
The principle is to create a solid support behind the intravesical ureter and elongate the
intramural length of the ureter. Following the initial report by Matouschek in 1981 [42]
O’Donnell and Puri [43] demonstrated the successful the use of ethylene polytetrafluoro paste
(Teflon) injected sub-ureterally to control reflux. However, concerns regarding potential
migration of the substance, the formation of granulomas, and lack of approval by the US
Food and Drug Administration (FDA), hampered the wide spread application of this
treatment outside Ireland and a few other countries [44]. Polydimethylsiloxane paste was
shown not to migrate and was also effective to control reflux. Although it remains the subject
of occasional reports, injection of this substance, which is very viscous, requires a special
pressure syringe a method many find cumbersome. Again, failure to obtain FDA approval
limited its use in the US [45].
The use of cross-linked bovine dermal collagen failed to obtain wide spread acceptance
because of low success rate and durability and the need to perform sensitivity tests prior to the
injection. The landscape of endoscopic injection for the treatment of reflux rapidly changed
with the appearance of hyaluronan/dextranomer copolymer (Deflux®) after the acceptance by
the FDA and in many centers became a first line of treatment for vesicoureteral reflux [46].
Whereas some authors have reported excellent success for HGVUR with up to three
injections [47], others have shown only 41% cure rate for grade IV reflux [48].
The preliminary results from a multicenter study demonstrated an 83.6% elimination of
reflux with a single injection. However in that series the majority of the patients had grades II
and III reflux [49].
De Badiola et al. managed grades IV and V of vesicoureteral reflux in young children
with an endocspic injection, and they reported overall success rate of 83.3%. Persistent
ureteral dilatation was present in 11% associated with high injection volume [50].
MANAGEMENT OF THE CHILD WITH VUR [51]

The goals of management of the child with VUR are to
1. Prevent recurring febrile UTIs

2. Prevent renal injury
3. Minimize the morbidity of treatment and follow-up.
Figure 5. Cohen Procedure.

It should be noted that several recent publications have questioned the efficacy of
continuous antibiotic prophylaxis (CAP) in reducing recurrent UTI and by extension the
importance of identifying VUR following urinary tract infection (UTI) [38, 52]. Until
recently, management of VUR without CAP was considered a deviation from standard care,
limiting the available data to address questions concerning VUR health risks or the use of
CAP. Future studies may identify patient subgroups most likely to benefit from VUR
identification and treatment.
THE CHILD WITH VUR LESS THAN ONE YEAR OF AGE

Continuous antibiotic prophylaxis is recommended for the child less than one year of age
with VUR with a history of a febrile urinary tract infection. This approach is based on the
greater morbidity from recurrent urinary tract infections found in this population.
In the absence of a history of febrile urinary tract infections, continuous antibiotic
prophylaxis is recommended for the child less than one year of age with VUR grades III–V
who is identified through screening.
In the absence of a history of febrile urinary tract infections, the child less than one year
of age with VUR grades I–II who is identified through screening may be offered continuous
antibiotic prophylaxis.
Circumcision of the infant male with VUR may be considered based on an increased risk
of urinary tract infections in boys who are not circumcised compared to those who are
circumcised. Although there are insufficient data to evaluate the degree of this increased risk
and its duration, parents need to be made aware of this association to permit informed
decision-making.
Reflux resolution occurs in about 50% of these children within 24 months.
THE CHILD WITH UTI AND VUR MORE THAN ONE YEAR OF AGE
Guidelines for management of VUR in the child more than one year of age are somewhat
different from those for the child less than one year of age, reflecting several contributing
elements that influence clinical outcomes. These include the greater likelihood of bladder
bowel dysfunction (BBD), the lower probability of spontaneous resolution of VUR, lower
risk of acute morbidity from febrile UTI and the greater ability of the child to verbally
complain of symptoms to indicate acute infection. The management decision should be made
with recognition of the clinical context, including the presence of BBD, patient age, VUR
grade, the presence of scarring, and parental preferences. Given the individuality of each
patient and their parental preferences, there can be no uniform guidelines of management.
If clinical evidence of bladder/bowel dysfunction is present treatment of bladder/bowel
dysfunction is indicated, preferably before any surgical intervention for VUR is undertaken.
Observational management without continuous antibiotic prophylaxis, with prompt
initiation of antibiotic therapy for urinary tract infections, may be considered for the child
with VUR in the absence of bladder/bowel dysfunction, recurrent febrile urinary tract
infections, or renal cortical abnormalities. While this approach is currently under
investigation and therefore no firm recommendation can be made, preliminary data suggest
that some groups of patients with VUR may do as well with this approach as with continuous
antibiotic prophylaxis.
Therapy with the intention to cure, including open or endoscopic surgery, is
recommended for recurrent infections, new renal abnormalities determined by DMSA
scanning, and parental preference.
MANAGEMENT OF THE CHILD WITH VUR AND BBD

Evidence supports the importance of BBD in the natural history and clinical outcomes of
VUR; the presence of BBD has been shown to reduce the rates of reflux resolution and
increase the incidence of UTI in patients managed with CAP, to reduce the cure rate of
endoscopic therapy, and to increase the incidence of UTI after definitive reflux cure. It is
therefore recommended that all children be evaluated for possible BBD based on clinical
history. Although treatment regimens vary and there are no data supporting one approach
over another, the panel recommends treatment of BBD in the child with VUR as an integral
part of reflux management.
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Chapter 22
POSTERIOR URETHRAL VALVES
Claire Raquillet1 MD and Taieb Chouikh2,3,4, MD

1
Pediatric Surgeon, Chief of the Division of Pediatric Surgery,
Hopital Robert Ballanger, Aulnay Sous Bois, France
2
Formely Pediatric Surgery Assistant Professor,
Tunis School of Medicine, University El Manar, Tunis, Tunisia
3
Special Registrar, Department of Paediatric Surgery,
Hôpital Universitaire Necker-Enfants Malades Hospital, Paris, France
4
Hopital Robert Ballanger, Aulnay Sous Bois, France
ABSTRACT
Posterior Urethral Valves (PUV) is the most common cause of lower urinary tract
obstruction. This malformation is one of the rare prenatal surgical newborn life-
threatening conditions. 60 to 80% of patients with PUV have a prenatal diagnostic and
early management.
Keywords: Posterior Urethral Valves, prenatal diagnosis and management, neonatal

emergency, management, renal function failure, long term prognosis, renal
transplantation
ANATOMICAL DESCRIPTION AND PHYSIOPATHOLOGY

Posterior urethral valves are classified according to Young [1] Classification.
Type I: (95% of cases): A thin membrane that originates at the verumontanum and travel
distally to insert in the anterior proximal membranous urethra formed of a connective tissue
coated on both sides with urothelium. This membrane had an eccentric opening present
posteriorly at the verumontanum. The etiology is probably a result of the mesonephric ducts
entering the cloaca more anteriorly than normal and fusing in the midline.
Type II Bicuspid valves as leaflets radiating from the verumontanum proximally to the
bladder neck.
230 Claire Raquillet and Taieb Chouikh
Type III PUV represents the other 5% and consists of a ring-type membrane distal to the
verumontanum with a perforation present centrally.
Most pediatric urologists now regard the existence of type II PUVs as doubtful. PUV
create a low urinary tract obstruction with consequences on the entire urinary tract:
- Detrusor fibrosis and hypertrophy leading in some cases of PUV to bladder valve
syndrome with disorder in the urinary continence
- Hydronephrosis with or without urinary reflux.
- Kidney dysplasia and hypotrophy primary or secondary to early obstruction.
PUV has a large spectrum of presentation, from tragic cases with irreversible renal failure
to cases with nearly normal renal function.
PRENATAL DIAGNOSIS
PUV represented 10% of all prenatally diagnosed uropathy.
Ultrasound (US)
Ultrasound (US) shows:
- Bilateral or unilateral hydronephrosis (Figure 1).

- Distended thick-walled bladder. Bladder diverticula can be observed.
- A keyhole sign concording to the posterior urethral dilation (Figure 2)
- Urinoma or urinary ascitis in can be noted in 5 to 15% of cases,
Prenatal Evaluation of Kidney Function
PUV is not only an obstructive problem; the underlying renal involvement is also vital in
the management. PUV is a perfect example of Congenital Anomalies of Kidney and Urinary
Tract (CAKUT).
One or more of these criteria are highly associated with bad prognostic [2]:
Oligo-hydramnios (more significant if early)

Increased echogenicity of the renal parenchyma.
Thin renal parenchyma, cystic parenchyma.
Term of diagnosis (worth before 22-24SA)
Fetal urine sodium greater than 100 mEq/L,
Posterior Urethral Valves 231
Figure 1. Prenatal US bilateral hydronephrosis (*).
Figure 2. Prenatal US: keyhole sign concordance to the posterior urethral dilation.
Osmolality greater than 210 mOsm,

Protein greater than 20 mg/dL
β2-microglobulin greater than 4 mg/L
The prenatal intervention did not improve the overall long-term renal function when
compared with conventional postnatal therapy. Only a few centers can perform such
intervention.
The aim of this procedure is to reduce the perinatal mortality and to avoid medical
abortion. (Ruano). Only the vesico-amniotic shunt described by Morris or the laser
fulguration fetal cystoscopy reported by QUINTERO seems to be effective. The Prenatal
parental consultation assumes great importance in these cases.
POSTNATAL MANAGEMENT
For an appropriate management of newborns with the prenatal diagnosis of PUV, birth
should occur in a Hospital medical and surgical management can be proposed.
Clinically the newborn presents an absence of urinary stream or drop by drop urination.
Nevertheless, a regular stream does not eliminate diagnosis.
Full Bladder or walnut-sized bladder can be observed.
Respiratory distress threatening vital prognosis can occur in severe cases with pulmonary
hypoplasia which is due to the oligo-amnios.
Urinary sepsis, hydro-electrolytic disorders, possible acidosis, acute kidney failure are no
longer reported as inaugural in cases of PUV since the advent of prenatal diagnosis.
To confirm the diagnosis of PUV, imaging techniques are needed.
Urinary Ultrasound Shows [3]
- Direct sign of PUV: The keyhole sign with posterior urethral dilation at the
exploration of the perineal area.
- Indirect signs of PUV: bilateral hydronephrosis, distended thick-walled bladder, in
rare cases ascites or urinoma
Voiding Cystourethrogram [4]
The use of suprapubic puncture to inject the product is recommended. The patient is
under antibioprohylaxy at the moment of the exam, drop by drop filling without pressure is
performed, and voiding radiographic pictures in profile and ¾ positions to explore the urethra
are mandatory.
The visual appearance of PUV is usually represented with a dilated and often elongated
posterior urethra and abrupt transition to a narrower distal urethra (Figure 3).
A thickened bladder wall, bladder diverticula, hypertrophic bladder neck and
vesicoureteral reflux (VUR) or seminal vesicles reflux may also be present.
Figure 3. Micturating cystouretrogram confirming the diagnosis of PUV.
TREATMENT
Immediate PUV Section
In cases of newborns weighing more than 2500g, without hydro-electrolytic disorders, or

infection.
The Ideal treatment is imminent endoscopic PUV section in the first day of life without
previous drainage. Urethrocystoscopy confirms the diagnosis, and then an endoscopic section
of the PUV is performed with appropriate tools. The resection of the PUV used a cold knife
or diathermic fulguration, the incision of PUV is made at the 5, 7, and 12 o’clock positions.
Several attempts are often necessary, with replacing every time the endoscope in the
bladder to empty it. Bladder emptying is required before removing the endoscope. No
drainage is needed at the end of procedure.
Some authors have advocated a percutaneous antegrade approach [5]. Others report a
PUV stripping with Fogarty catheter under radiological control [6].
Some authors suggest incision of bladder neck when hypertrophic to prevent the valve
bladder syndrome [7]. Circumcision could reduce the risk of infection, and are widely
performed [8].
Delayed PUV Section
Usually, it can be accomplished with a small, soft 4- 6 or 8-Fr feeding tube or Bruziere
tube. Care must be taken to ensure that the tube did not coil in the dilated posterior urethra.
Bladder ultrasound can help to confirm the proper placement of the tube. Gradual increase in
diameter tube can be achieved after one or two days. Foley catheters should be avoided for
initial drainage because the balloon may cause bladder spasm in the thick bladder wall and
affect urine drainage.
Also, the balloon may slip into the dilated posterior urethra. In the rare cases when the
urethra can not be cannulated, percutaneous suprapubic access can be used.
After a good drainage and often after one week PUV section is performed like described
above.
FOLLOW-UP
Immediate follow Up
Fluid and electrolyte management are critical in the first 24-48 hours. An essential
Postobstructive diuresis may occur and causes hydro-electrolytic disorders and acid-base
disturbances, which requires aggressive fluid and electrolyte replacement.
Serum creatinine level is monitored closely, with keeping in mind the fact that for the
first few days of life the patient creatinine level value reflects the maternal renal function.
Antibioprophylaxis is prescribed, especially in those patients presenting with hydronephrosis
or vesicoureteral reflux (VUR).
Immediate Complications
Anuria is the most common one: it can be due to delay electrolytic hydro compensation,
or to a full bladder requiring drainage.
Anuria can occur with a tube in place. If the bladder is full, the catheter can be coiled in
posterior urethra, if the bladder is empty, it can be due to the delay of the hydro-electrolytic
compensation or due to detrusor spasm. The tube has to be removed, and if there is a poor
outcome, nephrostomy may be necessary [9].
Secondary Monitoring
Based on
- Clinical features: weight curve, diuresis, and urination, blood pressure, febrile
urinary tract infection (UTI).
- Kidney function: creatinine, blood, and urinary electrolyte levels
- Upper urinary tract dilation.
The Rythm of monitoring depends on the original situation. In the first year of life, the
rate of decay and minimum rate of creatinine (nadir) are the major known prognostic factors
of kidney function [10].
Regression of dilation, confirms the absence of a residual obstruction.
Prophylactic antibiotic are maintained if VUR persists.
Complications in the First Year
Persistent obstruction:
- An Iterative endoscopic section can be performed.

- Medical treatment (alpha blocker) or surgical treatment of bladder neck hypertrophy
can be prescribed.
- Iatrogenic urethral stenosis may require urethrotomy.
Dilatation without urethral obstruction:
- Persistant reflux
- Valve bladder syndrome caused by bladder dysfunction
- Vesicoureteral junction obstruction caused by detrusor hypertrophy
- Tubulopathy is responsible for polyuria.
Long Term Follow Up
Renal Impact of PUV is well documented but not the voiding disorders induced by
them.PUV is a frequent obstructive uropathy, the low urinary tract obstruction (LUTO)
causes early consequences at two levels: kidneys and bladder.
PUV is one of the most severe CAKUT: with a renal failure rate of about 30% in
adolescence and 50% in adulthood. PUV represents the half of the causes of terminal renal
failure in the pediatric population. Disorders of continence named Valve Bladder Syndrom
(VBS) make the upper tract lesions worse. Valve bladder syndrome:
The term ‘valve bladder syndrome’ was introduced as a concept to encompass the
abnormal voiding patterns and symptoms of voiding dysfunction, the persistent thick walled
bladder, incomplete bladder emptying and associated upper tract dilatation seen in many boys
with posterior urethral valves [11].
It results from sustained bladder overdistention due to a combination of polyuria,

impaired bladder sensation, and residual urine volume, which represent sequelae of prenatal
valve injury.
These factors synergize to prevent bladder normalization after valve ablation and
progressively reduce functional bladder capacity to maintain bladder overdistention. Bladder
decompensation, upper tract dilation, and renal injury develop and characterize the valve
bladder syndrome [12].
80% of the children with PUV would be having VBS, and only 20% of these children
will have normal urodynamic patterns at the teenage period.
Voiding diary and flow measurement are essential to diagnose VBS. Urodynamic
evaluation and residual urine volume measure help to clarify the mechanism of dilatation and
allow distinguishing three forms:
- The small compliant hypertonic bladder.

- the hyporeflexic bladder with uninhibited detrusor contraction,
- the decompensated bladder with detrusor insufficance, distended bladder and
overflow incontinence.
Treatment aimed to prevent or reverse the deterioration of renal function and decrease the
hydro uretero nephrosis. To Get a low-pressure bladder, anticholinergics to treat bladder
instability and hypercontractility may be prescribed: surgical method by expansion
cystoplasty can be performed. Intermittent catheterization to Improve bladder emptying,
family education, behavioral treatment and alpha blockers helps to have a regular bladder
emptying.
In the Prenatal period, the information of the long-term prognosis has to be detailed to the
parents. The prenatal features did not predict the clinical outcome of the cases.
Obstruction begins between the seventh and the eleventh week of intrauterine life, from
the beginning of diuresis (12th week), the entire urinary tract must fight against the
obstruction, which creates the irreversible lesions. The urethral wall and the end of the
ejaculatory ducts are distended. The fibers of smooth sphincter are forced. The bladder neck
is hypertrophied. Bladder capacity, muscle activity, mictional pressures increases and wall
bladder became thick. Ureters are dilated, and reflux is common. Early impairment, important
and irreversible renal parenchymal makes the gravity of PUV and can lead to end-stage
kidney failure. Lesions start early and are evolutive, and they impact all the urinary tract.
Prenatal diagnosis does not improve the prognosis and late in utero treatments are
disappointing [13]. Mortality is not to be overlooked; a study finds 6.4% mortality between 3
and 12 years linked to kidney failure. There are two frequency peaks of renal failure: at birth
and in adolescence. About 50% of the cases have chronic renal failure, and 20.8% of cases
have terminal kidney failure at 18 years, and 37.5% of the cases have high blood pressure at
this age [14].
In the neonatal period, the renal failure reflects the irreversible damage that appears in
utero. In the first months of life, the kidney failure regresses and about 60% of children find
themselves in the medium term normal kidney function.
When approaching the adolescence, worsening of the renal function reappears due to the
nephrogenic loss, with inadequate bladder function, polyuria, and febrile urinary tract
infections with or without reflux.
The Predictors of Renal Failure
Prenatal criteria:
Based on the Ultrasound appearance of the kidneys, the importance of the distension, the
echogenicity of parenchyma, the amount of amniotic fluid and amniotic fluid biochemistry.
If these criteria are normal, the renal function is normal but this does not predict the long-
term renal function.
Postnatal criteria:
A creatinine nadir over 1ng /dl [10], with a dysfunctioning bladder after five years of
evolution. The presence of renal dysplasia [15], a Grade 3 or more reflux [16] and abnormal
kidney function, repetitive febrile urinary infection at diagnosis are correlated with worse
diagnosis The first two criteria being the most important.
Renal Transplantation after PUV
The transplant must be received by a patient whose urinary system is compliant,

continent, barren and utterly drained.
A secondary deterioration of the graft function is feared by the deleterious effects of
continuous high pressure. The pre-transplant assessment must be particularly rigorous. To
avoid this high-pressure conditions, the expansion cystoplasty or Intermittent catheterization
must be discussed before the transplantation.
After transplantation the prognosis is good. However, short term urological complications
are frequent with infections and ureteral stenosis. In a long-term period, there is a decline in
the renal function more frequently and faster than other cases of renal transplantation mainly
due to the impact of bladder dysfunction on renal function [17].
CONCLUSION
Long-term prognosis of PUV is cloudy since there is a 50% risk of kidney failure. Renal
lesions are irreversible, but valve bladder syndrome can be improved with early treatment.
The repetition of urodynamics investigations allows specifying the functional outcome of
adjusting and monitoring therapeutic management. Resection of PUV at birth is essential
however it does not abstract to the multidisciplinary management of this pathology [18].
REFERENCES
[1] Young H. H., Fronz W. A., Baldwin J. C. Congenital obstruction of the posterior
urethra. J. Urol., 1919. 3:289.
[2] J. Patrick Murphy and John M. Gatti. Abnormalities of the Urethra, Penis, and Scrotum
in Coran Pediatric surgery 7th edition, Elsevier (2012), p1555-57.
[3] Good C. D., Vinnicombe S. J., Minty I. L., King A. D., Mather S. J., Dicks-Mireaux C.
Posterior urethral valves in male infants and newborns: detection with US of the urethra
before and during voiding. Radiology, 1996 Feb.;198(2):387-91.
[4] Blanc T., Aigrain Y., Lortat-Jacob S. Prise en charge précoce des valves de l’urètre
postérieur. XXXème séminaire de chirurgie pédiatrique Société Française de chiurrgie
pédiatrique. Section Française d’urologie pédiatrique. Les uropathies congénitales de
diagnostic anténatal. P 113-130. Sauramps medical 2011.
[5] Zaontz M. R., Firlit C. F. Percutaneous antegrade ablation of posterior urethral valves
in infants with small caliber urethras: an alternative to urinary diversion. J. Urol., 1986
Jul;136(1 Pt 2):247-8. J. Urol., 1986 136 (1pt2): 247-8.
[6] Chertin B. Cozzi D., Puri P. Long-term results of primary avulsion of posterior urethral
valves using a Fogarty balloon catheter. J. Urol., 2002 Oct.;168(4 Pt 2):1841-3.
[7] Kajbafzadeh A. M., Payabvash S., Karimian G. The effects of bladder neck incision on
urodynamic abnormalities of children with posterior urethral valves. J. Urol., 2007
Nov.; 178(5):2142-7; discussion 2147-9. Epub 2007.
[8] S. Mukherjee, A. Joshi, D. Carroll, H. Chandran, K. Parashar, L. McCarthy What is the
effect of circumcision on risk of urinary tract infection in boys with posterior urethral
valves? Journal of Pediatric Surgery, Volume 44, Issue 2, February 2009, Pages 417-
421.
[9] Noe H. N., Jerkins G. R. Oliguria and renal failure following decompression of the
bladder in children with posterior urethral valves. J. Urol., 1983 Mar.; 129(3):595-7.
[10] Sarhan O. M., El-Ghoneimi A. A., Helmy T. E., Dawaba M. S., Ghali A. M., Ibrahiem
el-HIPosterior urethral valves: multivariate analysis of factors affecting the final renal
outcome. J. Urol., 2011 Jun.; 185 (6Suppl):2491-5.
[11] Steven, Divehysh Desai: Posterior Urethral Valves, Pediatric Urology book
5http://www.pediatricurologybook.com/).
[12] Stephen A. koff, Khaled H. mutabagani and Venkata R. jayanthi, the valve bladder
syndrome: pathophysiology and treatment with nocturnal bladder emptying. the journal
of urology, vol. 167, 291–297, january 2002).
[13] El-Ghoneimi A., Desgrippes A., Luton D., Macher M. A., Guibourdenche J., Garel C.,
Muller F., Vuillard E., Lottmann H., Nessmann C., Oury J. F., Aigrain Y. Outcome of
posterior urethral valves: to what extent is it improved by prenatal diagnosis? J. Urol.,
1999 Sep.; 162(3 Pt 1):849-53.
[14] Caione P., Nappo S. G. Posterior urethral valves: long-term outcome. Pediatr. Surg.
Int., 2011 Oct.; 27(10):1027-35.
[15] Bajpai M., Pratap A., Tripathi M., Bal C. S. Posterior urethral valves: preliminary
observations on the significance of plasma Renin activity as a prognostic marker. J.
Urol., 2005 Feb.; 173(2):592-4.
[16] Cozzi D. A., Morgante D., Frediani S., Iaconelli R., Ceccanti S., Mele E., Cozzi F.
Posterior urethral valves: relationship between vesicoureteral reflux and renal function.
Urology, 2011 May; 77(5): 1209-12.
[17] Grapin-Dagorno C., Boubnova J., Ulinski T., Audry G., Bensman A. Renal
transplantation in children with lower urinary tract dysfunction. Bull. Acad. Natl. Med.,
2007 Mar.; 191(3):569-81.
[18] Grapin dagorno C., Raquillet C., Boubnova J., Pronostic à long terme des enfants
porteurs de valves de l’urètre postérieur XXXème séminaire de chirurgie pédiatrique
Société Française de chiurrgie pédiatrique. Section Française d’urologie pédiatrique.
Les uropathies congénitales de diagnostic anténatal. P 113-130. Sauramps medical
2011.
Chapter 23
HYPOSPADIAS
Habib Bouthour1, MD, Samer Bostame2, MD,

and Nejib Kaabar3, MD, PhD
1
Pediatric Surgery assistant Professor, Tunis School of Medecine University El Manar,
Pediatric Surgeon Pediatric Surgery Department, Habib Thameur Hospital, Tunis Tunisia
2
3
Pediatric Surgery Professor, Tunis School of Medecine University El Manar
Pediatric Surgeon Chief of the department of Pediatric Surgery,
ABSTRACT
Hypospadias is a developmental anomaly characterized by a urethral meatus that
opens onto the ventral surface of the penis, proximal to the end of the glans. The meatus
may be located anywhere along the shaft of the penis, from the glans to the perineum [1].
Three associated anomalies are classically found in the hypospadiac penis: (1) an
ectopic opening of the urethral meatus located at any place between the glans and the
base of the penis, (2) a ventral curvature of the penis (chordee), and (3) a hooded foreskin
with a marked excess of skin on the dorsum of the penis and a lack of skin on the
ventrum. In fact, the chordee and the hooded foreskin are not constant, and a hypospadiac
meatus may be found under a normally formed prepuce.
Keywords: hypospadias, penile curvature, hooded foreskin, associated malformation, causes,

urethroplasty techniques
242 Habib Bouthour, Samer Bostame and Nejib Kaabar
INTRODUCTION
Hypospadias is a developmental anomaly characterized by a urethral meatus that opens
onto the ventral surface of the penis, proximal to the end of the glans. The meatus may be
located anywhere along the shaft of the penis, from the glans to the perineum [1].
Three associated anomalies are classically found in the hypospadiac penis: (1) an ectopic
opening of the urethral meatus located at any place between the glans and the base of the
penis, (2) a ventral curvature of the penis (chordee), and (3) a hooded foreskin with a marked
excess of skin on the dorsum of the penis and a lack of skin on the ventrum. In fact, the
chordee and the hooded foreskin are not constant, and a hypospadiac meatus may be found
under a normally formed prepuce.
Common classification system that refers to the meatal location after the chordeehas been
released (Table 1).
Table 1. Hypospadias Classification According to Meatal Location

after Release of chordee [2]
Anterior (65%-70% of cases)

Glanular
Coronal
Distal penile shaft
Middle (10%-15% of cases)
Middle penile shaft
Posterior (20% of cases)
Proximal penile shaft
Penoscrotal
Scrotal
Perineal
PATHOPHYSIOLOGY
Hypospadias is a congenital defect that is thought to occur embryologically during
urethral development, between 8 and 20 weeks’ gestation. The external genital structures are
identical in males and females until 8 weeks’ gestation; the genitals develop a masculine
phenotype in males primarily under the influence of testosterone. As the phallus grows, the
open urethral groove extends from its base to the level of the corona.
The classic theory is that the urethral folds coalesce in the midline from base to tip,
forming a tubularized penile urethra and median scrotal raphe. This accounts for the posterior
and middle urethra. The anterior or glanular urethra is thought to develop in a proximal
direction, with an ectodermal core forming at the tip of the glans penis, which canalizes to
join with the more proximal urethra at the level of the corona. The higher incidence of
subcoronal hypospadias supports the vulnerable final step in this theory of development [3].
Hypospadias 243
INCIDENCE
The incidence of hypospadias has been estimated to be between 0.8 and 8.2 per 1000 live
male births [1]. The wide variation probably represents some geographic and racial
differences, but of more significance is the exclusion of the more minor degrees of
hypospadias in some reports. If all degrees of hypospadias, even the most minor, are included,
then the incidence is probably 1 in 125 live male births. With the most quoted figure of 1 per
250 live male births, it can be assumed that more than 6000 boys are born with hypospadias
each year in the United States [1].
CAUSES
Several etiologies for hypospadias have been suggested, including genetic, endocrine,
and environmental factors.
Figure 1. Causes of hypospadias [2].

Genetic Factors
A genetic predisposition has been suggested by the eightfold increase in incidence of

hypospadias among monozygotic twins compared with singletons. This finding may relate to
the demand of two fetuses for human chorionic gonadotropin (HCG) produced by a single
placenta, with an inadequate supply during critical periods of urethral development.
A familial trend has been noted with hypospadias. The prevalence of hypospadias in male
children of fathers with hypospadias has been reported as 8%, and 14% of brothers of
children with hypospadias are also affected [4]. The inheritance is likely polygenic.
Endocrine Factors
A decrease in available androgen or an inability to use available androgen appropriately

may result in hypospadias. In a 1997 report by Aaronson et al., 66% of boys with mild
hypospadias and 40% with severe hypospadias were found to have a defect in testicular
testosterone biosynthesis [5].
Mutations in the 5-alpha reductase enzyme, which converts testosterone (T) to the more
potent dihydrotestosterone (DHT), have been associated with hypospadias. A 1999 report by
Silver et al., found nearly 10% of boys with isolated hypospadias had at least one affected
allele with a 5-alpha reductase mutation. Although androgen receptor deficits, quantitative or
qualitative, have been shown to result in hypospadias, this is thought to be relatively
uncommon, and other factors are more commonly implicated [6].
A higher incidence of hypospadias in winter conceptions has also been proposed.
Theoretically, this may be related to the effect of daylight on pituitary function, which, in
turn, affects the maternal and fetal hormonal milieu; however, other authors have not noticed
this association.
A fivefold increased risk of hypospadias appears to exist in males born through IVF in
comparison with a control group. This may reflect maternal exposure to progesterone, which
is commonly administered in IVF protocols. Progesterone is a substrate for 5-alpha reductase
and acts as a competitive inhibitor of the T-to-DHT conversion [7].
Other factors that contribute to infertility, such as underlying endocrinopathies or fetal
endocrine abnormalities, may play a role.
Environmental Factors
Endocrine disruption by environmental agents is gaining popularity as a possible etiology

for hypospadias and as an explanation for its increasing incidence.
Estrogens have been implicated in abnormal penile development in many animal models.
Environmental substances with significant estrogenic activity are ubiquitous in industrialized
society and are ingested as pesticides on fruits and vegetables, endogenous plant estrogens, in
milk from lactating pregnant dairy cows, from plastic linings in metal cans, and in
pharmaceuticals [8].
A study by Hadziselimovic reported increased estradiol concentration in placental basal
syncytiotrophoblasts of boys with undescended testes as compared with a control population.
Hypospadias 245
Undescended testes and hypospadias have been associated, but increased estradiol
concentration has not been implicated in hypospadias per se. This may support the association
of hypospadias with increasing parity, increasing maternal age, and low birth weight noted in
some studies in relation to lifelong exposure to environmental disruptors and a possible
cumulative effect [5].
Combination Theory
A growing body of evidence suggests that the development of hypospadias has a two-hit
etiology involving a genetic predisposition coupled with fetal exposure to an environmental
disruptor.
The clinical significance of the hypospadias anomaly is related to several factors. The
abnormal location of the meatus and the tendency toward meatal stenosis result in a ventrally
deflected and splayed stream. This fact makes the stream difficult to control and often makes
it difficult for the patient to void while standing. The ventral curvature associated with
chordee can lead to painful erections, especially with severe chordee.
Impaired copulation and thus inadequate insemination is a further consequence of
significant chordee. In addition, the unusual cosmetic appearance associated with the hooded
foreskin, flattened glans, and ventral skin deficiency frequently has an adverse effect on the
psychosexual development of the adolescent with hypospadias.
All of these factors are evidence that early surgical correction should be offered to all
boys with hypospadias, regardless of the severity of the defect.
At times, the distally located meatus may be associated with significant chordee,
sometimes of a severe degree (Figure 2). The release of the chordee places the meatus in a
much more proximal location, requiring more complicated transfers of tissue to bridge the
gap between the proximal meatus and the tip of the glans.
Figure 2. Hypospadias with severe chordee [2].

ASSOCIATED ANOMALIES
Inguinal hernia and undescended testes are the most common anomalies associated with
hypospadias. They occur from 7% to 13% of the time, with a greater incidence when the
meatus is more proximal [10].
An enlarged prostatic utricle also is more common in posterior hypospadias, with an
incidence of about 11% [10]. Infection is the most common complication of a utricle, but
surgical excision is rarely necessary.
Several reports have emphasized significantly high numbers of upper urinary tract
anomalies associated with hypospadias, suggesting that routine upper tract screening is
necessary. However, when the association is studied selectively, it can be shown that the
types of hypospadias that are at risk for surgically significant upper tract anomalies are the
penoscrotal and perineal forms and those associated with other organ system abnormalities.
When one, two, or three other organ system anomalies occur, the incidence of significant
upper tract anomalies is 7%, 13%, and 37%, respectively. Associated myelomeningocele and
imperforate anus carry a 33% and 46% incidence, respectively, of upper urinary tract
malformations. In isolated posterior hypospadias, the incidence of associated upper tract
anomalies is 5% [10].
Surgical Care
The goals of surgical treatment of hypospadias are as follows:
 To create a straight penis by repairing any curvature (orthoplasty)

 To create a urethra with its meatus at the tip of the penis (urethroplasty)
 To re-form the glans into a more natural conical configuration (glansplasty)
 To achieve cosmetically acceptable penile skin coverage
 To create a normal-appearing scrotum
The resulting penis should be suitable for future sexual intercourse, should enable the
patient to void while standing, and should present an acceptable cosmetic appearance [11].
Timing of Surgery
Before 1980, hypospadias repair was performed in children older than 3 years because of
the larger size of the phallus and a technically easier procedure; however, genital surgery at
this age (genital awareness occurs at about age 18 months) can be associated with significant
psychological morbidity, including abnormal behavior, guilt, and gender identity confusion.
Currently, most physicians attempt to repair hypospadias when the child is aged 4-18
months, with a trend toward earlier intervention. This has been associated with an improved
emotional and psychological result. A benefit in wound healing with earlier repair has also
been perceived and may have a basis in the reduced proinflammatory cytokine production
noted at younger ages.
Hypospadias 247
Late hypospadias repair, in the pubertal and postpubertal period, is associated with
complications, primarily urethrocutaneous fistula, in nearly half of patients.Some reports cite
a higher rate of complication in 5-year-old patients than in 1-year-old patients, suggesting that
earlier repair is generally better [12].
TREATMENT
The advent of safe anesthesia, fine suture material, delicate instruments, and good optical
magnification has allowed virtually all types of hypospadias to be repaired in infancy.
Surgical Procedures
Because of the wide variation in the anatomic presentation of hypospadias, no single

urethroplasty is applicable for every patient. At times, a final decision regarding the degree of
curvature and the ultimate location of the meatus cannot be made until the operation has
started and an artificial erection is performed. The surgeon who repairs hypospadias must be
adaptable and experienced to deal with all variants of the defect.
Figure 3. Flow diagram for types of repair in variants of hypospadias. MAGPI, meatal advancement
and glansplasty. TIP, tubularized incised plate urethroplasty [2].
Figure 4. The MAGPI procedure. A, Circumferential subcoronal incision to deglove the penile shaft
skin. B, Longitudinal incision through the ventral groove of glans (arrow). C, Transverse closure of
glans groove incision to advance dorsal urethral plate and to open stenotic meatus. D, Glans tissue
approximated ventrally in the midline to restore conical configuration to glans. E, Completion of the
skin closure [2].
Versatility and experience with all options of surgical treatment are the keys to successful
management. By recognizing the sometimes subtle nuances of meatal variation, glans
configuration, and curvature character, the experienced surgeon can make the best choice as
to the type of repair to use [11].
Distal Variants
Meatal Advancement and Glanuloplasty Incorporated

The MAGPI procedure involves not an advancement of the meatus but a reshaping of the
glans, giving the illusion that the urethral meatus has been moved to the tip of the penis.
The incision line is drawn 5 mm behind the ectopic meatus and following the
cutaneomucosal junction of the prepuce [13].
A deep vertical incision into the glanular groove for a distance of about 1 cm opens the
dorsal meatus generously. Transverse closure of the diamond-shaped defect that is created
flattens out the glanular groove and allows a straight stream to emerge. The ventral lip of the
urethra is fixed with a holding stitch and brought forward. This allows the lateral wings of the
glans to rotate to the ventrum. A sleeve approximation of the penile skin is done, excising all
redundant tissue and leaving a circumcised appearance. It seems that the MAGPI procedure is
particularly well indicated when the glans isbroad and flat.
Hypospadias 249
The Tubularized Incised Plate Urethroplasty (TIP)

The tubularized incised plate urethroplasty (TIP) is a modification of the Thiersch-
Duplay tubularization, which involves a deep longitudinal incision of the urethral plate in the
midline [14]. This allows the lateral skin flaps to be mobilized and closed in the midline
without tension. This procedurealso allows the wide-mouthed meatus variant with a flat,
shallow ventral groove to be repaired without the need for additional flaps. The TIP
urethroplasty has gained wide acceptance in recent years. Its durability and long-term success
have been demonstrated even in some of the more proximal variants [15].
Figure 5. TIP procedure A, Urethral plate is incised longitudinally. B, Glans incisions are made
longitudinally, wide enough to leave two strips of epithelium for 10-Fr size neourethra. C, Neourethra
is tabularized in the midline with multiple layers and dartos flap to reinforce.D, Glans wings are closed
in the midline. E, Skin closure is completed and the urethral stent is in place (optional) [2].
Middle Variants
The amount of ventral curvature generally dictates the type of repair in middle- and
distal-shaft hypospadias. When no significant chordee is present, the TIP repair or the meatal-
based flap can sometimes be performed.
Mathieu Procedure
In the Mathieu procedure, two parallel incisions are made on either side of the urethral
plate, up to the tip of the glans and deep down to the corpora cavernosa. The incision line
delimits a perimeatal-based skin flap that is folded over and sutured to the edges of the
urethral plate. The lateral wings of the glans are generously dissected from the corpora
cavernosa. The rest of the procedure follows the recommendations given earlier [16].
Figure 6. Mathieu procedure. A, Parallel incisions along ventral groove distal to the meatus and
formation of meatal- based flap proximal to meatus. B, Glans wings developed on either side of the
urethral plate (arrow) to close over the neourethra later. Meatal-based flap is mobilized distally
maintaining good vascular and tissue support. C, Flap is anastomosed to bilateral edges of the urethral
plate to form neourethra. D, Glans wings are closed over the neourethra in the midline, giving conical
glans configuration. Penile shaft is covered with dorsal foreskin advanced ventrally [2].
Distal strictures are rare (1%), and fistulas are met in 4% of the cases (0.5% meatal
retraction and 1% urethrocutaneous fistulas). The half-moon–shaped meatus is sometimes
disappointing, but an extensive dissection of the two wings of the glans allows a nice
glanuloplasty. The overall results remain satisfactory.
The Onlay Island Flap Repair

This procedure involves mobilizing an inner preputial flap on its pedicle and rotating it
ventrally to lay on the well-developed ventral urethral plate to complete the tubularization of
the neourethra. This technique is applicable to many forms of penile shaft hypospadias.
In milder degrees of chordee, the curvature can be corrected without dividing the urethral
plate by taking down tethering bands lateral to the urethral plate or by dorsal plication
techniques. This allows the onlay island flap technique to be used instead of the tubularized
pedicle flap or free graft, which have a higher incidence of complications. If significant
chordee is present, division of the urethral plate may be necessary. This moves the meatus
more proximal and requires treatment as described for proximal variants [17].
Hypospadias 251
Figure 7. The onlay island flap repair A, Outline of incisions along the well-developed urethral plate
with no chordee. B, Mobilization of glans wings and shaft skin with urethral plate intact distal to
meatus. Outline of inner preputial island flap that will be transposed ventrally for onlay completion of
neourethra. C, Island flap transposed ventrally on pedicle. The first part of the anastomosis is
completed. D, Remainder of anastomosis to complete neourethra to tip of glans. E, Glans wings are
approximated over the neourethra in the ventral midline. The penile shaft is covered with the ventral
advancement of dorsal foreskin [2].
Figure 8. Two-stage Durham Smith repair. A, Release of chordee. B, Splitting of dorsal preputium. C,
Denuded ventral glans before transposing preputial skin to ventrum. D, Transposition of dorsal foreskin
to ventrum completes the first stage. E, “U”-shaped incision around the meatus and out onto glans. F,
Tubularization of Duplay-type tube to form the neourethra. G, Second layer of soft tissue to reinforce
suture line. H-J, Overlapping skin closure with de- epithelialization of inner flap gives a “double-
breasted” closure of the skin [2].
Proximal Variants
Many of the scrotal and perineal forms of hypospadias are associated with significant
chordee, which requires division of the urethral plate and results in a gap to be bridged
between the proximal native urethra and the tip of the glans [18]. This can be done with
staged procedures in which coverage of the ventral penile shaft is attained by rotation of
dorsal flaps to the ventrum, with later tubularization to form the neourethra.
The Tubularized Free Graft

The tubularized free graft is anastomosed to the native urethra proximally and extended
to the end of the glans by a tunneling or splitting technique [19]. The most commonly used
free grafts are full-thickness skin, bladder mucosa, or buccal mucosa. Preputial skin is much
preferred to extragenital skin. If genital skin is not available, buccal mucosa may be the next
best tissue. Vascularized flaps are a more physiologically sound alternative to free grafts. The
transverse inner preputial island flap that is tubularized and transposed ventrally to form the
neourethra is the preferred type of vascularized flap. In contrast to free grafts, it provides
good preputial skin with a reliable blood supply that does not rely on neovascularization for
healing of the neourethra. Occasionally, the length of the prepuce alone may not be adequate
to bridge the defect to a very proximal meatus. In this case, the shiny non–hair-bearing skin
around the meatus can be tubularized, moving the proximal urethra to the penoscrotal
junction. The preputial vascularized tube graft can then be used to bridge the remaining
distance to the end of the penis.
Figure 9. Transverse preputial island flap tube repair. A and B, Release of chordee and degloving of
penile shaft skin. B, Outline of inner preputial island flap. C, Tubularization of inner preputial island
flap. D, Transposition of the tubularized island flap to the ventrum, maintaining pedicle blood supply.
E, Creation of a channel through glans tissue with sharp incisional and excisional technique. F, Island
tube anastomosed to proximal native urethra, brought through glans channel and anastomosed to
epithelium at tip of glans. G, Penile shaft covered with dorsal foreskin advanced ventrally. Skin closure
is completed [2].
Hypospadias 253
Alternatives for reconstruction of severe proximal hypospadias include the Koyanagi

repair and its modifications. The urethral plate and the adjacent tissues are mobilized with the
tissues forming the inner aspect of the preputial hood [20]. A long and wide strip of well-
vascularized tissue is mobilized with its blood supply down to the base of the penis. The
whole graft is transferred to the ventral aspect of the penis and detached from the anterior
surface of the corpora cavernosa. The tissues brought ventrally form the prolonged urethral
plate, which is then tubularized from the ectopic meatus up to the glans. Koyanagi and
colleagues reported a 47% complication rate but good cosmetic and functional results [20]. A
variant of the Koyanagi technique has been reported by Hayashi and colleagues, who avoid
the midline division of the preputial hood providing a better blood supply to the substitutive
urethra. Both techniques were compared with similar outcome and an overall reoperation rate
of approximately 60% of cases. Fistulae, urethral dehiscence, stenosis of the glanular urethra,
and urethroceles were the most common complications reported with these two techniques.
Technical Perspectives
Optical Magnification
Most surgeons agree that optical magnification is indispensable in hypospadias surgery.
Standard operating loupes, ranging from 2.5× power to 4.5×, are generally thought to be ideal
for the magnification needed for this type of surgery. Some workers advocate the use of the
operating microscope and suggest an improved result with this technique. Most surgeons have
not believed that this degree of magnification is necessary for obtaining excellent results. The
microscope may be overly cumbersome for the small improvement in visualization it may
provide.
Sutures and Instruments

Fine absorbable suture is chosen by most surgeons to close the neourethra. Polyglycolic
or polyglactin material is probably the most common suture choice. However, some surgeons
prefer the longer-lasting polydioxanone suture. Permanent sutures of nylon or polypropylene,
in a continuous stitch that is pulled out 10 to 14 days after surgery, are recommended by
some.
The type of optical magnification also determines the size of the suture. Generally, 6-0 or
7-0 suture is preferred. With the microscope, 8-0 or 9-0 may be used. Skin closure is usually
accomplished with either fine chromic (6-0 or 7-0) or plain catgut suture. Small suture-sinus
tracts may occur along these suture lines as they dissolve.
The delicate instruments of ophthalmologic surgery are well designed for the precise
tissue handling required in hypospadias repair. Small, single-toothed forceps or fine skin
hooks allow tissue handling with minimal trauma. Standard microscopic tools are necessary
for those who prefer the microscope over loupe magnification.
Urinary Diversion
The goal of the surgeon in any urinary diversion procedure in hypospadias repair is to
protect the neourethra from the urinary stream for the initial healing phase. In theory, this
diversion should decrease the complication rate, particularly fistula formation. The more
traditional perineal urethrostomy and suprapubic cystostomy are uncomfortable and

cumbersome to manage in the postoperative period. Small indwelling 6- or 8-Fr polymeric
silicone (Silastic) tubes left through the repair and just into the bladder allow drainage of the
urine into the diaper in infants. This technique greatly facilitates the outpatient care of these
patients. These stents are well tolerated by the babies. Problems with the stents becoming
plugged or dislodged are uncommon.
Some surgeons favor a stent that traverses the repair but is not indwelling in the bladder.
The patient is allowed to void, but the stent protects the repair. In older children who would
not tolerate wearing a diaper, a 6- or 8-Fr Foley catheter may be used in the simpler distal
repairs and a suprapubic cystostomy is used in the more complex repairs. Suprapubic
drainage should be used in complex reoperations or in any repairs requiring a free graft.
Studies have suggested that no diversion is required for simpler distal procedures, such as
MAGPI, meatal-based flap, or distal Duplay tubes. Simple small fistula repairs can be
accomplished without diversion.
COMPLICATIONS
Complications are common and should be treated at least 6 months after the initial
procedure, to allow the tissues to heal properly.
Unsatisfactory Cosmetic Result
Unsatisfactory cosmetic results are common and may include irregular suture lines, skin
blobs, or redundant ventral skin forming a jabot. If the ventral aspect of the glans is short and
there is no mucosal collar around the glans, the cosmetic result is disappointing. The
surgeon’s and the patient’s views on the cosmetic result are often very different.
Bleeding
Intraoperative bleeding can, at times, be troublesome. However, with the judicious use of
the point tip cautery, it can be generally be kept to a minimum. Tourniquets or cutaneous
infiltrations with dilute concentrations of epinephrine can be helpful, but they should not
replace careful technique. Postoperative bleeding is generally prevented by mildly
compressive dressings. Subcutaneous hematomas may occur but generally do not need to be
drained.
Fistulas
Fistulas are the second most common complication of hypospadias repair. The patient
presents with an abnormal stream or drops coming from the under surface of the penis.
Although late fistulas exist, this is usually an early complication (first month postoperatively)
[21]. A fistula that is small and not associated with a urethral stricture can heal spontaneously.
If it persists after 6 months, another procedure is required. The fistula rate varies with the
Hypospadias 255
technique used: 4% for the Mathieu procedure but 15% for the onlay procedures in, going up
to 20% in cripple hypospadias [21]. This complication is more common with free graft
urethroplasties than with vascularized grafts. The location of the fistula varies, but it is often
found proximal to the glans corona in a lateral position. If the fistula persists longer than 6
months after the initial procedure, the fistula tract should be excised and sutured and covered
by several layers of tissue. Large fistulas are unusual and attest that the original urethroplasty
was not satisfactory. They usually require a full reconstruction of the urethra. A combination
of fistula and urethral stenosis is common, and therefore the urethroplasty needs to be
checked cautiously before deciding on a simple fistula closure. Fistulas located just behind
the corona are not easy to close and tend to recur if the usual excision-and-coverage
procedure is performed. For this reason, it is often recommended in these cases to redo the
distal urethroplasty using a Mathieu flap.
Multiple layer closure has a major role in lowering the incidence of fistula formation. The
introduction of a protective intermediate layer is the most important single factor in reducing
the incidence of fistula and other complications of hypospadias repair. One or more layers
was essential as a protective intermediate layer between the neo urethra and the skin layer.
Types of protective intermediate layer including the following as summarized below:
 Buck’s fascia,
 Smith’s de-epithelialised skin,
 Snow’s tunica vaginalis wrap from the testicular coverings,
 Retik’s dorsal - subcutaneous preputial flap from the foreskin,
 Motiwala’s dartos flap from the scrotum
 Dorsal dartos fascia flap, and
 The external spermatic fascia flap.
Nowadays the use of spongioplasty is important to be added as an intermediate layer and

is helpful to protect the urethroplasty. Another point is the two layers closure of the glans as
additional support as proved statistically in hypospadias surgery whether primary or
complicated cas.
Strictures
Narrowing of the neourethra may occur anywhere along its course. However, the most
common sites of stricture formation are at the meatus and at the proximal anastomosis. Most
cases of meatal narrowing can be managed as an office procedure by gentle dilation in the
first few postoperative weeks. Occasionally, meatotomy or meatoplasty is needed, especially
when associated with a proximal fistula or neourethral diverticulum. More proximal strictures
can generally be treated with dilation or a visual internal urethrotomy. However, open
urethroplasty may sometimes be required, with excision of the stricture and primary urethral
anastomosis or patch graft urethroplasty [21].
Persistent Chordee
Persistent chordee is quite rare. The long-term outcomes of plication of the tunica
albuginea of the corpora are unknown, and dorsal plication of the corpora at an early age may
predispose the patient to secondary penile deformities as the penis grows considerably in the
adolescent period. One should therefore be very cautious with these dorsal-shortening
procedures, and patients should be followed up through puberty.
Diverticulum
Saccular dilation of the neourethra may result from distal stenosis causing progressive
dilation, contained urinary extravasation from the breakdown of the repair, or initial creation
of an oversized segment of the neourethra. Classic bulging of the urethra ventrally with
voiding is evident with significant diverticulum formation. Urinary stasis with chronic
inflammation is common. Obstruction can result from kinking of the urethra when the
diverticulum distends\ with voiding. Repair requires excision of the redundant neourethra
with primary closure to restore a uniform caliber to the urethra. Special attention should be
paid to any narrowing of the neourethra distally, just as in fistula repair.
REFERENCES
[1] Paulozzi L, Erickson d, et al.: hypospadias trends in tow US surveillance systems.
Pediatrics 1997; 100:831-834.
[2] J. Patrick Murphy, MD. Hypospadias, George Whitfield Holcomb III, J. Patrick
Murphy; associate editor, Daniel J. Ostlie. — Ashcraft’s pediatric surgery/5th ed,
Philadelphia, Saunders Elsevier, 2010, pp. 775-790.
[3] Baskin LS. Hypospadias and urethral development. J Urol. 2000 Mar. 163(3):951-6.
[4] Kallen B, Bertollini R, Castilla E, et al. A joint international study on the epidemiology
of hypospadias. Acta Paediatr Scand Suppl. 1986. 324:1-52.
[5] Aaronson IA, Cakmak MA, Key LL. Defects of the testosterone biosynthetic pathway
in boys with hypospadias. J Urol. 1997 May. 157(5):1884-8.
[6] Homles NM, Miller WL, et al. :Lack of defect in androgen production in children with
hypospadias. J Clin endocrinol Metab 2004;89:2811-2816.
[7] Kim KS, Torres CR, et al.: induction of hypospadias in a murine model by maternal
exposure to synthetic estrogens. Enveron Res 2004;94:267-275.
[8] Baskin LS, Colborn T, et al.: hypospadias and endocrine disruption: IS there a
conneection environ health perspect 2001;109:1175-1183.
[9] Hadziselimovic F. Placental estradiol: An ostensible etiologic factor of human
cryptorchidism. Kirsch AJ, ed. Dialogues in Pediatric Urology: The impact of the
environment and endocrine disruptors on pediatric urology. 2000. 1-8.
[10] Khuri F, hardy B, ET AL.: Urologic anomalies associated with hypospadias. U rol clin
North Am 1981;125 :395-397.
[11] .Barbagli G, palminteri E, et al.: penile urethral reconstruction: Concepts and concerns.
Arch Esp Urol 2003; 56:549-556.
[12] Bermudez DM, Canning DA, Liechty KW. Age and pro-inflammatory cytokine
production: Wound-healing implications for scar-formation and the timing of genital
surgery in boys. J Pediatr Urol. 2011 Jun. 7(3):324-31.
[13] Duckett JW: MAGPI (meatal advancment and glanuloplasty): A procedure for
subcoronal hypospadias. Urol Clin north am 1981; 8:513-520.
[14] Snodgrass W, Koyle M, et al.: tabularized incised plate hypospadias repair for proximal
hypospadias. J Urol 1998;159:2192-2131.
Hypospadias 257
[15] Jayanthi VR: The modified Snodgrass hypospadias repair: Reducing the risk of fistula
and meatal stenosis. J Urol 2003:170:1603-1605.
[16] Maatieu P: traitment en un temps de l hypospadias balanique et juxatabalanique. Jchir
1932;39 :481.
[17] Baskin LS, Duckett JW, et al.: Changing concepts of hypospadias curvature lead to
more onlay island flap procedures. J Urol 1994;151:191-196.
[18] Albers N, Ulrichs c, et al.: etiologic classification of severe hypospadias: Implications
for prognosis and management. J Pediatr 1997;131:386-392.
[19] Duckett JW: transverse prepurtiuale island flap trchnique for repair of severe
hypospadis. Urol Clin North AM 1980:7:423-431.
[20] Koyanagi T, Nonomura K, Kakizaki H, et al. Experience with one-stage repair of
severe proximal hypospadias: operative technique and results. Eur Urol. 1993.
24(1):106-10.
[21] Retik AB, Keating M, et al.: complication of hypospadias repair. Urol Clin north Am
1988;15:223-236.
[22] Scherz Hc kaplan GW, et al.: post-hypospadias repair urethral strictures: A review of 30
cases. J Urol 1988;140;1253-1255.
Chapter 24
UNDESCENDED TESTICLES
Taieb Chouikh, MD1,, Chaima Mrad2, MD,

1
Formerly Pediatric Surgery assistant Professor, Tunis School of Medecine,
University El Manar Tunisia;
2
Pediatric Surgery Resident, Sousse School of Medecine Ibn Al Jazzar
University Sousse Tunisia;
3
Formerly Pediatric Surgery Professor Tunis School of Medecine,
University El Manar. Tunis –Tunisia
ABSTRACT
The undescended testis represents one of the common referrals to a pediatric
surgeon, but the presentation varies considerably. The management differs widely
depending on the age of the child and the location of the testis.
An undescended testis is found in 3–5% of full-term male newborns and bilateral in
nearly 2%. In premature neonates, the incidence of undescended testes is reported to be
30%, reflecting the continued descent of the testes throughout the third trimester [1].
A testis may be high in the retroperitoneum or retractile, migrating into and out of
the scrotum. The testis may be also absent or vanishing, and the clinician must be
proficient in performing an abdominal exploration to confirm it.
Recent studies demonstrate that birth weight rather than gestational age is the
primary determinant of undescended testes. Postnatal testicular descent may be possible
and usually occurs prior to 6 months of age [2].
Keywords: undescended testicle, classification, management, fertility, malignancy risk
 Corresponding author: [email protected], Special Registrar. Formely Pediatric Surgery assistant Professor
Tunis School of Medecine University El Manar Tunisia; Department of Paediatric Surgery, Hôpital
Universitaire Necker-Enfants malades Hospital, 149 rue de Sevres, 75015 Paris, France; Hopital Robert
Ballanger Bd Robert Ballanger 936020, Aulnay sous bois France.
260 Taieb Chouikh, Chaima Mrad and Sofien Ghorbel
CLASSIFICATION
Testicular descent begins in the retroperitoneum and continues until the testis reaches its
position in the scrotum. The testis can be found in any location along this path of descent
(cryptorchidism) or in an ectopic location.
Classification of the undescended testis includes all of these locations, most commonly
they are described as either palpable or non-palpable.
A palpable testis has descended to the level of the external ring whereas a non-palpable
testis remains intra-abdominal.
This description depends on the clinician’s examination. Accepting this degree of
inconsistency, approximately 80% of undescended testes are palpable.
A testis might be non-palpable due to testicular agenesis or atrophy, or a difficult
physical examination. At the time of surgery for a non-palpable testis, a surgeon can
anticipate approximately 40% of non-palpable testes to be distal to the external inguinal ring,
another 40% to be atrophic or absent, and 20% to be truly intra-abdominal.
Most ectopic testes are found in a superficial pouch between the external oblique fascia
and Scarpa’s fascia.
A retractile testis is one that migrates in and out of the scrotum with movement of the
cremasteric muscles. The vast majority of retractile testes do not require intervention, though
a small proportion can become “ascending testes,” which will require surgery. Therefore,
surveillance in these cases untli the testis became no longer retractile is mandatory. In
addition, because of the higher risk of malignant degeneration in undescended testes
regardless of whether or not they have been surgically corrected, boys with undescended
testes should be counseled to perform systematic testicular examination after puberty.
EMBRYOLOGY
The undescended testis results from abnormal testicular development and descent. Many
theories exist regarding the etiology of testicular maldescent.
Up to the time of sexual differentiation in the human fetus at 7 to 8 weeks’ gestation, the
fetal testis and ovary occupy similar positions and are held by the cranial suspensory ligament
(upper pole) and the gubernaculum (lower pole). The gonadal positions then diverge; the
testis remains close to the future inguinal canal, whereas the ovary moves away from the
groin.
The cranial suspensory ligament, which persists in girls, regresses in boys while the
gubernaculum enlarges, especially at its distal end where it is embedded in the inguinal
abdominal wall. The inguinal canal forms by condensation of mesenchyme around the
gubernaculum to form the inguinal musculature. The mesenchyme of the gubernaculum
persists to form a solid cord; wich later becomes hollowed out by a diverticulum of
peritoneum, the processus vaginalis [4]. The proximal gubernaculum, which is initially
attached to the gonad, becomes expanded by growth of the caudal epididymis. The processus
vaginalis grows caudal into the gubernacular mesenchyme, partialy hollowing out the
gubernaculum.
Undescended Testicles 261
The caudal end of the gubernaculum remains solid, but the proximal part is divided into a
central column attached to the epididymis and an annular parietal layer within which the
cremaster muscle develops. At the start of the third trimester, the caudal end of the
gubernaculum bulges beyond the inguinal abdominal wall (Figure 1) and migrates across the
pubic region to the scrotum [5]. The processus vaginal is elongates proportionally inside the
gubernaculum so that the testis can leave the peritoneal cavity within it. Migration of the
gubernaculum and the testis to the scrotum is complete by 35 weeks [5, 6]. During migration,
the gubernaculum is loose within the inguinoscrotal mesenchyme, suggesting enzymatic
digestion of the adjacent tissues. After migration is complete, the processus vaginalis
becomes secondarily attached to the bottom of the scrotum.
In the first (“transab-dominal”) phase at 8 to 15 weeks the testis (T) is held near the
inguinal abdominal wall during embryonic growth by enlargement of the guberna-culum (G).
This relative change in testicular position compared with the ovary is controlled by testicular
hormones, with insulin-like factor 3 the primary hormone possibly augmented by mullerian-
inhibiting substance (MIS)/antimullerian hormone. The cranial ligament regresses under the
action of testosterone.
Figure 1. Gubernacular development in the two phases of testicular descent in the human fetus [3].
In the second (“inguinoscrotal”) phase at 28 to 35 weeks, the gubernaculum migrates by

elongation toward the scrotum. This is controlled indirectly by testosterone acting on the
genitofemoral nerve (GFN) in the dorsal root ganglia to differentiate the sensory fibers to
release calcitonin gene-related peptide (CGRP). CGRP controls growth and direction of
migration of the rat gubernaculum, and it is hypothesized that it does the same in humans.
CSL, cranial suspensory ligament [3].
Regulation of normal testicular descent into the protected environment of the scrotum is
likely multifactorial and may be affected by androgen stimulation, somatic fetal growth,
gubernacular development and intra-abdominal pressure. In addition, abnormal testicular
development can result in abnormal testicular descent.
The different phases of testicular descent are hormonally regulated. The hormones
controlling descent and their mechanism of action remain controversial [6]. The early phase
of abdominal testicular descent is regulated separately from the migratory inguinoscrotal
phase [4, 7]. Androgen controls regression of the cranial suspensory ligament of the testis, but
regression of this ligament is not essential for testicular descent [8]. Enlargement of the
gubernaculum testis is primarily controlled by insulin -like factor 3 (Ins. l3), [9] which is an
analogue of insulin and relaxin produced by Leydig cells. [10, 11].
Normal spermatogenesis requires a temperature that is 2–3° cooler than normal intra-
abdominal temperature. Therefore, testes remaining in the intra-abdominal cavity are at
continued risk for abnormal spermatogenesis. Boys with bilateral undescended testes are at
much greater risk of low sperm concentration and abnormal morphology than boys with a
unilateral undescended testis. Men with a history of bilateral undescended testes have
uniformly poor semen parameters and have a significantly decreased paternity rate when
compared with men with unilateral undescended testis and the general population. On the
other hand, 43% of men with a unilateral undescended testis have a paternity rates that do not
differ from that of the general population.
Undescended testes have abnormal germ cell morphology, varying degrees of gonadal
dysgenesis, and are exposed to elevated intra-abdominal temperatures. This abnormal
development can progress to fibrosis, basement membrane degeneration. The relative risk of
testicular cancer in patients with a clinical history of an undescended testis is up to 14 times
higher than for boys with normal testicular descent [1].
DIAGNOSIS
Evaluation of the child with undescended testes begins with a comprehensive history,
which should include a maternal and gestational history with clear documentation of the
neonatal physical examination, medical and surgical history, and a family history to assess a
potential genetic predisposition.
The physical examination is of great importance and directs further interventions. A
complete examination should include the penis, scrotum, perineum, inguinal canal, and
potential sites of testicular ectopia. Detection of a nonpalpable testis can be improved by
placing the child supine, allowing the clinician to palpate along the expected path of testicular
descent using a sweeping movement after wetting his/her hands with water.
During the history and physical examination, signs and symptoms of an inguinal hernia
or hydrocele should also be documented. Over 90% of children with undescended testes have
a patent processus vaginalis that must be ligated at the time of orchidopexy. The clinician
must also be attuned to potential characteristics of congenital syndromes that are associated
with undescended testes, including disorders of sexual differentiation, prune belly syndrome,
and Prader-Willi syndrome.
In the evaluation of the undescended testis, radiographic testing is hindered by a
significant rate of false-negative results. Hrebinko and Bellinger (12) reported that
ultrasonography, computerized tomography, and magnetic resonance imaging for
undescended testes correlated with operative findings in 58, 33, and 0% respectively, with an
overall accuracy of 44%. Given this high false negative rate, radiographic imaging is not
routinely performed in the evaluation of undescended testes.
Laboratory evaluation is utilized in the evaluation of bilateral undescended testes.
Determination of the levels of follicle stimulating hormone (FSH), luteinizing hormone (LH),
and testosterone can verify the presence or absence of testicular tissue.
Elevated FSH in a prepubertal boy indicates anorchia.
A child with bilateral undescended testes and normal gonadotropin levels can be further
assessed with a human chorionic gonadotropin stimulation test prior to operative exploration
[1].
It is also critically important to promptly rule out the diagnosis of congenital adrenal
hyperplasia, the work up of which should include an electrolyte panel, 17-hydroxy-
progesterone level, testosterone level, pelvic ultrasound and karyotype.
TREATMENT
The goal of surgical repair is to remove the testis from the abdominal position or inguinal
canal and relocate it in the scrotum. Placing the testis in the scrotum allows:
 Proper examination (suspected neoplasia or torsion.

 Prevents further deterioration of spermatogenesis.
Definitive surgical therapy is recommended between 9 months and one year of age.
Operative planning depends primarily on the preoperative location of the testis.
Examination of the inguinal and scrotal region under general anesthesia sometimes
allows to palpate a previously nonpalpable testis.
The essential steps of standard orchidopexy for palpable testis include:
(1) Mobilization of the spermatic cord and testis,

(2) Division of the gubernaculum,
(3) High ligation of the patent processus vaginalis,
(4) Dissection of the internal spermatic fascial layers,
(5) Ffixation of the testis in a superficial sub-dartos pouch in the ipsilateral hemiscrotum.
The testis can be secured in a sutureless subdartos pouch, sutured at the tunica vaginalis,
or sutured at the tunica albuginea.
In the 1980s, a prescrotal approach to the palpable testis was described by Bianchi et al.
[13]. This technique is especially useful for the testis that can be brought into the scrotum by
caudal traction, a scrotal incision is created to form a sub-dartos pouch. After formation of the
sub-dartos pouch, the incision is deepened to the level of the tunica vag-inalis and the testis is
delivered into the field. As in a standard inguinal orchidopexy, the spermatic cord and testis
are mobilized. In contrast to the standard approach, the gubernaculum does not need to be
divided. If a patent processus vaginalis is present it is ligated near the level of the internal.
The testis is then secured in the subdartos pouch.
Non Palpable Testis
Diagnostic laparoscopy for assessment of the nonpalpable testis allows an easy

distinction between a vanishing testis, the intracanalicular nonpalpable testis, and the intra-
abdominal testis. A testicular remnant (“nubbin”) can usually be distinguished by its reddish-
brown discoloration due to hemosiderin deposition. If a blind-ending vas deferens is

visualized first, the spermatic vessels must be located prior to completion of the exploration.
If blind ending vessels are identified, no further surgical exploration is indicated, if a remnant
is present it must be resected.
High undescended testes require further mobilization to achieve adequate length for
tension-free placement into the scrotum. There are many techniques described to provide
additional mobilization and length.
The Prentiss maneuver [14] involves division of the inferior epigastric vessels and
opening of the transversalis fascia to allow the testis to reach the ipsilateral hemiscrotum via
the most direct course. As a modification, the testis and spermatic cord can be passed under
the inferior epigastric vessels thereby removing the need for ligation while still providing a
direct route of descent into the scrotum.
The spermatic vessels are often the limiting factor in obtaining additional length. The
Fowler–Stephens orchidopexy describes the division of the internal spermatic artery to
provide additional length [15]. After this procedure, the testis is entirely dependent upon
blood supply from the deferential artery and the cremasteric attachments. Therefore, division
of the internal spermatic artery may only be used prior to extensive dissection of the vas
deferens and spermatic cord. The Fowler–Stephens orchidopexy, although initially described
as a one-stage procedure, can be performed in two stages.
As an alternative to a Fowler–Stephens procedure, testicular auto-transplantation via
microvascular anastomosis of the testis to the ipsilateral inferior epigastric artery and vein
may be used. Although this technique has been reported to have success rates of 95% [15],
the dependence upon microvascular surgical techniques has limited its general applicability.
More recently, laparoscopic techniques have been development for the diagnosis and
treatment of the nonpalpable and intraabdominal testis. Shehata [16] reports a new technique
where the gubernaculum and the lower pole of the testis were attached with a stitch which
exited above the contralateral anterior superior spine. Gradual traction on the tension stitch
was achieved over 14 days. A laparoscopy was performed after 14 days to check the new
position of the testis and to locate the testis intrascrotally.
POSTOPERATIVE CARE
Operative complications include damage to the ilioinguinal nerve, injury to the vas
deferens, hematoma, wound infection, and testicular retraction.
The most serious of these complications is testicular atrophy resulting in loss of a testis.
Devascularization and testicular ischemia are usually a result of excessive skeletonization of
the spermatic cord and use of too forceful electrocautery. The analysis of the available
literature reveals an atrophy rate of up to 8% for palpable and of up to 25% for non-palpable
testes [17, 18].
Success of the operative treatment is defined as scrotal position and lack of atrophy of the
testis. It depends on the type of the undescended testis (palpable and non-palpable), the
operative procedure performed and the age at time of surgery. The result of the treatment
should be evaluated at least 1 year postoperatively.
In the 2000s, success of orchiopexy reported in the literature was [19, 20]: over 95% for
inguinal testes, 85–90% for abdominal testes, with one- or two stage Fowler-Stephens
orchiopexy, both with open surgical or laparoscopic technique.
However, having a palpable testis in the scrotum does not ensure its normal function,
which means normal hormone production and normal spermatogenesis [21, 22].
As the patient continues to grow and develop through puberty, routine testicular exams
should be performed. Upon transition into adulthood, all boys must be counselled regarding
the performance of testicular self-examination.
REFERENCES
[1] Pasquale Casale and Sarah M. Lambert: Undescended Testis in Fundamentals of
Pediatric Surgery (Peter Mattei) Springer, 2011, 673-677.
[2] Wenzler DL, Bloom DA, Park JM. What is the rate of spontaneous testicular descent in
infants with cryptorchidism? J. Urol. 2004; 171 (2 Pt 1): 849–51.
[3] John M. Hutson Undescended Testis, Torsion, and Varicocele in Pediatric surgery. —
7th ed. / editor in chief, Arnold G. Coran by Saunders, an imprint of Elsevier Inc 2012,
1003-1019.
[4] Backhouse KM. Embryology of testicular descent and maldescent. Urol. Clin. North
Am. 1982 Oct; 9(3):315-25.
[5] Ahlberg NE, Bartley O., Chidekel N. Right and left gonadal veins. An anatomical and
statistical study. Acta Radiol. Diagn. (Stockh). 1966 Nov; 4(6):593-601.
[6] Attah AA, Hutson JM. The role of intra-abdominal pressure in cryptorchidism. J. Urol.
1993 Sep; 150(3):994-6.
[7] Baker BA, Morley R., Lucas A. Plasma testosterone in preterm infants with
cryptorchidism. Arch. Dis. Child. 1988 Oct; 63(10):1198-200.
[8] Baker LA, Nef S., Nguyen MT, Stapleton Rand al. The insulin-3 gene: lack of a genetic
basis for human cryptorchidism. J. Urol. 2002 Jun; 167(6):2534-7.
[9] Barthold JS, González R. The epidemiology of congenital cryptorchidism, testicular
ascent and orchiopexy. J. Urol. 2003 Dec; 170(6 Pt 1):2396-401.
[10] Beasley SW, Bettenay F., Hutson JM: The anterior urethra provides clues to the
aetiology of prune belly syndrome. Pediatr. Surg. Int. 1988; 3:169.
[11] Behringer RR, Finegold MJ, Cate RL. Müllerian-inhibiting substance function during
mammalian sexual development. Cell. 1994 Nov 4; 79(3):415-25.
[12] Hrebinko RL, Bellinger MF. The limited role of imaging techniques in managing
chidren with undescended testes. J. Urol. 1993;150 (2 Pt 1):458–60.
[13] Bianchi A., Squire BR. Trans-scrotal orchidopexy: orchidopexy revised. Pediatr. Surg.
Int. 1989; 4:189.
[14] Prentiss RJ, Weickgenant CJ, Moses JJ, Frazier DB. Undescended testis: surgical
anatomy of spermatic vessels, spermatic surgical triangles and lateral spermatic
ligament. J. Urol. 1960; 83: 686–92.
[15] Elder JS. Two-stage Fowler–Stephens orchiopexy in the management of intra-
abdominal testes. J. Urol. 1992; 148(4):1239–41.
[16] Shehata SM. Laparoscopically assisted gradual controlled traction on the testicular
vessels: a new concept in the management of abdominal testis. A preliminary report.
Eur. J. Pediatr. Surg. 2008 Dec; 18(6):402-6. doi: 10.1055/s-2008-1039028. Epub 2008
Nov 14.
[17] Kucharski P., Niedzielski J. Neoadjuvant human Chorionic Gonadotropin (hCG)
therapy may improve the position of undescended testis: a preliminary report. Cent.
Eur. J. Urol. 2013; 66: 224-8.
[18] Docimo SG. The results of surgical therapy for cryptorchidism: a literature review and
analysis. J. Urol. 1995; 154:1148–52.
[19] Papparella A., Parmeggiani P., Cobellis G., et al. Laparoscopic management of non
palpable testes: a multicenter study of the Italian society of videosurgery in infancy. J.
Pediatr. Surg. 2005; 40: 696-700.
[20] Thorup J., Haugen S., Kollin C., et al. Surgical treatment of undescended testes. Acta
Paediatr. 2007; 96: 631-7.
[21] Ritzen EM, Bergh A., Bjerknes R., et al. Nordic consensus on treatment of undescended
testes. Acta Paediatr. 2007; 96: 638-43.
[22] Tekgül S., Dogan HS, Hoebeke P., et al. Pediatric Urology. European Society for
Paediatric Urology, European Association of Urology. Guidelines on Paediatric
Urology 2014.
PART FOUR
TUMORS
Chapter 25
MEDIASTINAL MASSES
Taieb Chouikh, MD1,*, Chaima Mrad2, MD,

1
Special Registrar; Formely Pediatric Surgery Assistant Professor,
Department of Paediatric Surgery, Hôpital Universitaire,
Necker-Enfants Malades Hospital, Paris, France
Hopital Robert Ballanger, Aulnay sous bois, France
2
Pediatric Surgery Resident, Sousse School of Medecine
Ibn Al Jazzar University, Sousse, Tunisia
3
Formely Pediatric Surgery Professor,
ABSTRACT
Mediastinal masses are defined by a combination of clinical and radiological features
caused by the existence of abnormal structures in the mediastinum.
The mediastinum is the body compartment limited by the sternum, the spine, the
diaphragm and the lungs. It is divided into three parts.
Anterior Mediastinum is limited anteriorly by the posterior surface of the sternum,
posteriorly by the anterior face of the great vessels, trachea, and pericardial sac, and on
each side of the pleura and lungs. It contains the thymus, great vessels and a network of
lymphatic structures.
Middle Mediastinum is circumscribed in the classical anatomic description by the
pericardium. It includes the trachea, main stern bronchi the heart, the great vessels, and
the hilar lymph.
Posterior Mediastinum lies behind a line passing in front of the tracheal bifurcation
and extending to the paravertebral space. It contains the thoracic esophagus, the
sympathetic nerves chain and a part of the great vessels (Aorta, Azygos Vein).
* Corresponding
author: [email protected].
Keywords: anterior mediastinum, posterior mediastinum, thymic masses, teratomas,

lymphomas, bronchogenic cysts, neuroblastomas, management, surgery
CLINICAL FEATURES
Prenatal diagnosis of mediastinal masses is possible [1]. The fetus which develops
progressive nonimmune hydrops, cardiac failure, or mediastinal shift with compression of
developing lung tissue. Some of these cases may benefit from in utero decompression or
resection of a cystic mediastinal lesion. However, most of the cases are diagnosed after birth
or later in life.
The clinical symptoms of mediastinal lesions are the result of mass effects and are
influenced by the location of the lesion. Many are asymptomatic, although the most
prominent symptom of anterior and middle mediastinal masses is respiratory distress,
particularly in infants when noisy stridorous breathing or cyanosis while feeding is observed.
In older children, cough, chest pain, dyspnea, orthopnea or rarely hemoptysis occurs. Rapid
onset of respiratory distress or symptoms of superior vena cava obstruction suggests
lymphoma [2]. Although rare, infected teratomas have been reported to rupture into the
bronchus, pleura, and pericardium. Posterior mediastinal masses can be large and remains
asymptomatic, often discovered incidentally on a chest radiograph taken for other indications.
Less frequently pain or symptoms of spinal cord compression lead to the diagnosis.
Symptoms of gastrointestinal obstruction due to the compression of the esophagus can be
reported in cases of posterior mediastinal masses. Finally, secretion of catecholamine, alpha-
fetoprotein or gonadotropins may also uncover the mass.
DIAGNOSTIC METHODS
Imaging
Anteroposterior and lateral chest X-ray are helpful to localize the mediastinal mass. It can
show widening of the mediastinal shadow, masses in the hemithorax or calcifications.
Ultrasound remains useful.
Chest computed tomography (CT) is now mostly performed, it helps to locate the mass,
to give more information about its nature (cystic, solid) and to reveal calcifications. Several
studies comparing contrast medium enhanced CT with MRI suggest that CT is superior given
its ability to define a calcification within a mass [3]. CT is helpful to reveals extrinsic mass
effect on the esophagus.
Magnetic resonance imaging (MRI) is useful in cases of vascular lesion and when an
evaluation of intraspinal space is needed.
Mediastinal Masses 271
Laboratory Test
If the nature of a mediastinal mass is unclear or if the potential of malignancy is present,

a serum sample should be drawn for determination of Alfa foeto protein or beta human
chorionic gonadotropin levels (especially in cases of anterior mediastinal mass) Urinary
catecholamines catabolites should be obtained in cases of posterior mediastinal masses.
In some tumors especially when the surgery is not the primary treatment, histology
molecular features should be ascertained before therapy. Cells can be obtained by biopsy of
the mass by a fine needle aspiration guided by ultrasonography or CT or by a sample from a
distant lymph node.
ANTERIOR MEDIASTINUM MASSES

Usually, anterior abdominal masses are thymic masses or Teratoma. Lymphoma is the
most frequent malignant tumor of the anterior mediastinum.
Thymic Masses
 Thymic Cyst
They derived from the thymopharyngal duct and may appear in the anterior mediastinum
or the neck [4]. They are usually asymptomatic, but when they increased in size, they became
palpable or are detected by mediastinum imagery.
Infection, hemorrhage can occur. Symptoms due to mass effects are responsible for
respiratory symptoms. Thymic cysts can also be found in rare instances of malignant
lymphoma and in patients with human immunodeficiency (HIV) infection in whom they can
be multilocular [5]. These cysts require surgical excision.
 Thymomas
Malignant Thymic Neoplasia is exceedingly rare in children [6], accounting for less than
1% of mediastinal tumors with only 20 well-documented cases of malignant thymomas in
children [7]. Treatment is multimodal, but outcome is poor.
 Benign Thymic Hyperplasia

Thymus have a role in the development of the immune system in infancy. Its size is large
early in life and regresses later.
Thymic hyperplasia is an enlargement of the gland no longer believed to cause
respiratory embarrassment. Treatment with corticosteroids is usually enough to induce a
regression of the enlarged thymus [8] although rapid increase of its size has led some authors
to recommend resection [3].
 Thymolipoma, Hamartoma are begign tumors. Surgical resection results in diagnosis

and cure.
Germinal Cell Tumors
 Teratomas
These tumors comprise only 8% to 16% of the tumors in this region at all ages and are
uncommon in children [6, 9]. They consist of solid or organoid masses with tissues derived
from all three blastodermic layers (ectoderm, endoderm, and mesoderm). Their histologic
features are heterogeneous and may have cystic or solid areas as well as mature and immature
components.
Mediastinal teratomas are located almost invariably in the anterior compartment of the
mediastinum. These masses can be diagnosed prenatally. They develop relatively early in
fetal life and may cause hydrops and fetal demise [10].
In most cases, they are detected after birth because of respiratory distress or later in life
because of vague symptoms. The diagnosis is often an incidental finding from chest
radiographs performed for other causes. Mediastinal teratomas should be suspected whenever
a mass with or without calcifications is seen in the anterior mediastinal compartment.
Most mediastinal teratomas are benign in children, and the prognosis is worse if they
contain elements of other germ cell tumors. Surgical excision is the treatment of choice for
mediastinal teratomas. α- Fetoprotein is an excellent tumor marker because it is usually
elevated in malignant and immature tumors and very seldom in mature ones [11].
 Nonteratomatous Germ Cell Tumors:

As yolk sac, embryonal carcinoma, seminoma, germinoma, or choriocarcinoma [11, 12].
 Choriocarcinoma:
It occurs more often in preadolescent and adolescent. These tumors induce a feminization
state with breast hypertrophy, testicular atrophy, and precocious puberty.
Beta human chorionic gonadotropin is a useful tumor marker in these cases.
Chemotherapy which is very active in malignant germ cell tumors may allow subsequent
surgery after tumor shrinkage.
 Seminomas:
This tumor had a better prognosis and is more sensitive to radiotherapy.
Lymphomas
 Non Hodgkin Lymphoma (NHL)

In this disease, several lymph nodes and structures are involved in a massive proliferation
of lymphoblasts. Lymphoblasts can divide into:
B cells: related to humoral immunity and produced in the bone marrow. In children B
cells give rise to undifferentiated Burkitt or non-Burkitt Lymphomas, which represent about
50% of all lymphomas and that more often locate in abdominal organs.
T cells: involved in cellular immunity that is processed in the Thymus. T cells cause
lymphoblastic lymphoma (40% of all lymphoma) and are located in the Thymus or lymph
nodes of the anterior mediastinum.
In 10% of the cases, undifferentiated tumors are noted, it may be of T or B origin [8].
All these tumors behave like systemic diseases and are extended beyond the original site.
Regional nodes, distant organs (the bone marrow, the liver, the pleural and pericardial spaces)
can be involved by the disease. Symptoms of mediastinal lymphoma are caused by rapid size
increase with compression effects on the airway (respiratory distress, wheezing…) or vascular
structure like vena cava (edema of the face, jugular ingurgitation). Hematologic disturbances
may appear when the bone marrow is invaded. Large lymph nodes may be palpable in the
neck, axillae, sub-clavicular and substernal areas. Imaging depicts (Plain X-ray of the chest,
CT scan) define the extent of the disease and the involvement of the airway. Cellular
diagnosis can be performed from a fluid analysis (pleural or pericardial space). When lymph
nodes or fluid are not available for review and when the bone marrow is healthy, fine needle
guided aspiration or biopsy are required. These tumors are a good responder to chemotherapy;
surgery is not the primary treatment of mediastinal NHL [8].
 Hodgkin Lymphoma (HL)

Hodgkin’s lymphoma is less frequent in this location and occurs more often in
preadolescent and adolescent individuals. Hodgkin’s lymphoma originates in one group of
lymph nodes but extends to adjacent or distant nodes after lymphatic pathways. Confirmation
of the diagnosis and a detailed histology assessment require biopsies. The extent of the
disease determines the modality of the treatment.
Accurate staging is important before selection of the treatment protocol. The Ann Arbor
classification of four stages with subgroups remains the most widely used system [8].
Hodgkin’s lymphoma may be localized primarily in the anterior and middle mediastinum in
children and may cause compressive effects as NHL. Biopsies are sometimes possible from
extrathoracic nodes. If not, the Chamberlain operation or thoracoscopy usually allow retrieval
of enough tissue for diagnosis.
Like NHL, surgery is not the primary treatment of Hodgkin’s lymphoma, except in very
localized cases. However, it may occasionally be performed in children in whom unusual
imaging pictures are suggestive of other diagnoses.
MEDIUM MEDIASTINAL MASSES

Bronchogenic Cysts
The generic term foregut duplication cyst is a more accurate. Embryologic description
with subdivision into bronchogenic or enteric cysts determined by the histology of the
mucosa lining the cyst wall [3]. In fact, all three endodermal structures may be found in the
occasional foregut duplication, supporting a common embryologic derivation for foregut
duplication cysts.
Bronchogenic cysts develop from an abnormal budding of the tracheal diverticulum or
ventral portion of the foregut. These cysts can be found in a variety of locations depending on
the level at which the abnormal budding occurred in the development of the foregut or
tracheo bronchial tree. It has been reported that about two-thirds of bronchogenic cysts are
located within the lung parenchyma, with the remainder in the mediastinum, but this
distribution varies between different reports. Rarely, they can be found in remote locations,
such as the tongue, neck, back, and even below the diaphragm [3].
Although they do not usually communicate with the tracheobronchial tree, they may do
so from inception or the contact may be acquired from infection.
Bronchogenic cysts have been reported on the antenatal ultrasonography. Diagnosis in
Older children frequently results from identification of an incidental mass on chest radiograph
obtained for an unrelated reason. Or in Infants usually present with gastrointestinal or
respiratory symptoms, the mass may be obscured on plain film by associated atelectasis and
infection. In this case, the diagnosis can be delayed, but CT usually confirms the diagnosis.
Bronchogenic cysts should be excised to avoid the complications of infection, hemorrhage, or
sudden death from rapid expansion under tension.
The differential diagnosis includes foreign body, lobar emphysema, pneumonia,
bronchial stenosis and pneumothorax.
A risk of malignant transformation does exist, as malignancy has been reported in two
adult patients with bronchogenic cysts and mucoepidermoid carcinoma or adenocarcinoma
has been reported arising from a bronchogenic cyst [13]. Cyst Resection is usually
straightforward, but a parenchymal lung resection or lobectomy may be required. In the
majority of patients, bronchogenic cysts are amenable to thoracoscopic resection. Complete
excision is recommended; recurrence 15 years after incomplete resection has been reported
[14].
Vascular Masses
Vascular Tumors
Most hemangiomas located in the anterior mediastinum are in continuity with
cervicofacial components. They may be asymptomatic or cause respiratory compromise when
they extend into the airway. If they are asymptomatic, they should not be treated because they
tend to regress over time. However, if airway involvement is present, active anti-angiogenic
treatment with corticosteroids and/or interferon 2α or 2β must be promptly used (interferon
2α has been found to cause severe neurologic complications) [15].
Vascular Malformations
These lymphatic venous masses may be located anywhere in the body but particularly
near the confluences of large venous and lymphatic collectors. The mediastinum is one of
these locations [16, 17].
Prenatal diagnosis is possible in some cases; The tumor may extend into either
hemithorax and eventually to the neck and the base of the mouth. Lymphangiomas are
multicystic and infiltrate the anatomical structures making their resection extremely
complicated. The tissue reacts like other lymphatic structures to local infections, and the
volume of the mass may change due to the infection, intracystic bleeding or inflammation.
Respiratory or intestinal compression symptoms may arise.
Treatment of mediastinal lymphangiomas must take into account that it is a benign mass,
that total removal is often impossible, and that a too radical surgery may endanger nervous
trunks or other structures. Sclerosis with OK-432 or other agents is an alternative or a
complement in cases in which partial removal has already reduced the volume of the tumor.
The result of the sclerosing procedures is satisfying only in cases of single cysts. For masses
with multiple infiltrating cysts of small size, partial debulking may be enough [18].
POSTERIOR MEDIASTINUM MASSES

Neuroblastomas
Neuroblastomas is a diagnosed association of clinical features with laboratory tests,

imaging studies, and histological study.
Clinical Features
Approximately 20% of neuroblastomas are diagnosed either antenatally or in the first 3
months of life [19, 20]. More than 90% are of adrenal origin and cystic in nature.
Mediastinal Neuroblastoma is diagnosed incidentally in 20%-50% of the cases and
children are asymptomatic at the diagnosis [8].
Symptoms include cough dyspnea, chest pain, radicular pain and respiratory distress.
Claude Bernard Horner’s syndrome (meiosis, ipsilateral ptosis, enophthalmos and anhydrosis
of the face) is induced by tumor infiltration of cervical and thoracic sympathetic chain.
Hypertension due to catecholamine secretion is present in 25% of the cases. Pleural effusion
may be present and may lead to a mistaken diagnosis of empyema. Tumor extension into the
spinal canal may induce pressure on nerves and cause spinal cord compression with back pain
weakness of limbs and incontinence or retention of urine. Preneoplasia syndrome results in
Ospso myoclonus syndrome (dancing eyes) that thought to be immunologically mediated; and
watery diarrhea caused by vasoactive intestinal peptide secretion [21]. Metastases give rise to
specific symptoms like Hutchinson’s Syndrome where orbit metastasis cause proptosis and
panda eyes. The most frequent locations of metastasis are bone marrow and cortex (60%),
lymph nodes (45%), liver (15%), and skin [8].
Imaging
Chest Pain Film

Usually, the first performed in patients with respiratory symptoms.
This exam shows an apical or a paravertebral lesion. Calcifications are present in 30% of
the cases of children with mediastinal neuroblastoma [8]. A widening of the paraspinal line or
the intercostal space can be observed. Osteolytic images due to an erosion of pedicles are
noted when an intraspinal extension of the neuroblastoma is present.
Ultrasonography (US)
Used to estimate pleural effusion and empyemas, but this exam cannot visualize the
mediastinum. Ultrasound is helpful in the extension statement of the disease (looking for liver
disease).
Computerized Tomography (CT)

The Imaging modality of choice in thoracic neuroblastoma. It shows the primary tumor
with the territory of low attenuation related to necrotic and hemorrhage areas.
Magnetic Resonnance Imagery (MRI)

MRI is equivalent to or better than CT at defining anatomical detail of the primary tumor
including related blood vessels. MRI is mandatory if there is concern about the intraspinal
extension and in cervicothoracic neuroblastoma. Also, there is no ionizing radiation which is
an advantage for long-term follow-up.
MRI may be useful for assessing residual disease, tumor recurrence, and remaining
fibrous tissue following chemotherapy or radiotherapy and postoperative scarring.
The main disadvantage of MR is the impact of movement artefact; this makes it difficult
to use in young children without anesthesia.
Meta Iodo Benzyl Guanidine Scintigraphy (MIBG)

MIBG is similar to catecholamine and is taken up by 90%-95% of neuroblastomas
(primary tumor and metastases) as well as by ganglioneuroma, pheochromocytoma.
MIBG scintigraphy usually identifies the primary tumor and all metastases especially
bone marrow disease. It is an essential tool for making the initial diagnosis and as a staging
investigation for neuroblastoma. It is also very useful for follow-up.
Laboratory Tests
Determination of urinary catecholamines level is essential for the diagnosis and the
monitoring of the impact of the treatment. It concerns Measurement of Dopamine
Vanillylmandelic Acid (VMA) and Homovanillic Acid (HVA)
For this test, the urine is collected in a special bag or container for a 24-hour period.
Other laboratory tests are useful: Lactate dehydrogenase test, Neuron-specific Enolase
(NSE) and ferritin test.
The International Neuroblastoma Staging System (INSS)

This staging system (Table 1) [22] is based on surgical as well as pathological findings.
The main disadvantage of the INSS is that it describes the post-surgical stage. Thus the same
tumor could be stage 1 or 3 depending on the surgeon involved. This incongruity lead a recent
conference (Whistler, Canada, September 2005) to propose a new staging system - the
International Neuroblastoma Risk Group Staging System (INRGSS) based on age, N-myc
status, histology and pre-treatment imaging criteria (imaging-derived risk factors – IDRFs
(Table 2) [23].
Children less than one year have a favorable prognosis. They present with lower stage
disease, and N-Myc amplification is rare [24]. Less than 5% of all neuroblastomas present in
adolescents (aged 10–18 years at diagnosis). Although the primary tumor site and disease
stage are similar to younger children, adolescents may present with metastases to unusual
sites including the brain, lungs, and pleura. N-myc amplification is relatively uncommon, but
survival rates are worse when teens are treated with the standard childhood protocols,
suggesting that other biological factors are important in this age group.
The INRGSS is a real pre-treatment stage and more objective than the previous INSS
which relied on the surgical assessment of respectability [23].
Table 1. International neuroblastoma Staging System [22]
Stage 1 Localized tumor is confined to the organ of origin; complete resection with or
without microscopic residual tumor; ipsilateral and contralateral lymph nodes
are microscopically negative
Stage 2a This involved a localized tumor with incomplete gross resection; ipsilateral and
contralateral lymph nodes are microscopically negative
Stage 2b This involves a unilateral tumor with incomplete or complete gross resection;
ipsilateral lympth nodes are positive; contralateral lymph nodes are
microscopically negative
Stage 3 In this stage, tumor crosses the midline with or without regional lymph node
involvement, unilateral tumor is associated with positive contralateral lymph
nodes, or a midline tumor is found with positive bilateral lymph nodes
Stage 4 Distant metastases are present
Stage 4s This occurs in infants with a localized tumor that does not cross midline, with
metastatic disease confined to the liver, skin, and bone marrow 9<10% tumor
cells in bone marrow)
Table 2. Image defined risk factors associated with cervical and thoracic tumors [23]
Neck Tumor encasing vertebral or carotid artery

Tumor encasing brachial plexus roots
Tumor crossing the midline
Thorax Tumor encasing the trachea or principle bronchus
Trumor encasing the origin and branches of the subclavian vessels
Thoraco-abdominal tumor encasing the thoracic aorta
Tumour-stage at diagnosis is an important independent prognostic factor. One exception

to this rule is the strange clinical presentation of stage 4s disease first described by D’Angio
in 1971 [25]. Stage 4s disease occurs, by definition, in an infant less than 1 year of age, with a
small localized primary and metastases to the liver, skin and bone marrow. Virtually all of
these tumors may eventually regress without treatment. However, the rapid progression of
hepatic metastases can compromise breathing and thus treatment may be required either in the
form of abdominal decompression with a patch or chemotherapy. Stage 4s thoracic tumors
occasionally need chemotherapy to reduce pressure symptoms caused by compression of the
surrounding structures.
Biopsy
Biopsy is not always mandatory. Stage 1 and 2 tumors can be treated immediately by
surgery. All children with stage 3 and 4 disease should have a tumor biopsy and bone marrow
aspirates and trephines. Sufficient tissue should be obtained at biopsy to permit histological
assessment of the tumor, cytogenetic studies and allow storage of a specimen for research
purposes
Traditionally tumor biopsies have been taken from the primary site. Sometimes it may be
simpler to biopsy an accessible metastasis. If a biopsy is to be taken thoracoscopically, the
same principles should be used as an open biopsy. The laparoscopic procedure must be
performed carefully to prevent crushing or to coagulate the biopsy specimen. Percutaneous
Biopsies are best done with image-guidance (ultrasound / CT guidance), depending on the
skill of the radiology department. Regardless of the approach or technique, the biopsy site
should be located within the field of any future surgical exploration.
Management
The aim in the management of these patients is to achieve a cure or long-term survival
with the minimum morbidity. Using age, stage and biological characteristics both the North
American Cancer Observation Group (COG) and European Societé Internationale
d’Oncologie Pédiatrique (SIOP) categorize disease as low, intermediate or high risk (Table 3)
and this forms the basis for management.
Table 3. Risk Stratifications used by SIOP
Patient/tumor characteristics
Low risk  Infants below 1 year of age
 Stage 1 or 2 tumors that can be treated with complete resection alone
 Stage 4s
Intermediate  Children over the age of 1 year with unresectable stage 2 and 3 without
risk adverse biological features
High risk  Children over the age of 1 year with stage 2 and 3 disease with N-myc
amplification
 Stage 4 disease
Surgery plays a central in the management of neuroblastoma both for biopsy and for
definitive treatment. However, there are instances where chemotherapy, radiotherapy, and
even observation are more appropriate than surgery. Resection of extensive tumors is
technically challenging and may be associated with significant morbidity [26].
The role and timing of surgery are dependant on the patient's risk group. The role of
surgery in high-risk disease, in particular, remains controversial.
Low Risk Group

Surgical excision is considered for stage 1 or 2 tumors providing this can be achieved
without causing unnecessary morbidity. An observational approach for 4 s disease is
sufficient in most cases. Chemotherapy may be performed for symptomatic spinal cord
compression as well as stage 4s patients with respiratory compromise.
Intermediate Risk Group

After confirmation of the diagnosis by biopsy, intermediate risk patients receive standard
chemotherapy (12–24 weeks) followed by surgery. The aim of surgery is or subtotals
resection without sacrifice of vital structures. Decisions about post-operative chemotherapy
depend on the histology of the resected tumor and the extent of any residual disease.
High Risk Group

High-risk patients currently undergo biopsy, initial intensive chemotherapy and an
attempt at surgical resection followed by bone marrow ablation with a peripheral blood stem-
cell rescue. This may be followed by radiotherapy and cis-retinoic acid therapy. Irradiating
the chest has consequences for skeletal growth and lung function. The decision to administer
radio therapy is only made after extensive discussion by the multidisciplinary team.
Primary resection is the treatment of choice in stage 1 and 2 [27]. Kushner showed that
surgery alone can be sufficient for stage 1 disease even in the presence of positive resection
margins and unfavorable biology [27].
Patients with high-risk disease are a major challenge. Currently, they are treated much
more aggressively because of the poor prognosis. There are, however, differing opinions on
the role of surgery for stage 3 and 4 tumors. As these tumors encircle major vessels, it is
technically impossible to remove the entire tumor. Tumor removal is piecemeal, and the
microscopic resection margins are invariably positive.
The general access for open surgical excision of a thoracic neuroblastoma is a
posterolateral thoracotomy. Tumors extending across the midline into the opposite
paravertebral space may require bilateral thoracotomies either under the same anesthetic or at
a later stage. Stage 3 and 4 tumors frequently encase major blood vessels. Experience has
shown that these tumors do not usually invade the vessel wall but remain outside the sub
adventitial layer. In the abdomen, the principle is to identify the major vessels early before
they enter the tumor and then follow them by careful dissection. Once the vessels are free, the
tumor can be removed piecemeal [26]. All relevant lymph nodes should be sampled at
thoracotomy if possible. The Pediatric Oncology Group study reported that although lymph
node biopsies were only obtained in 41% of patients undergoing thoracotomy, 36% of those
biopsied contained tumor [8].
Minimally Invasive Resection

Successful thoracoscopic resection of apical and supradiaphragmatic mediastinal
neuroblastomas has been reported. Small (≤ 6 cm), stage 1 lesions with a favourable histology
have been resected with no complications other than minor tumor spillage, resulting in
disease-free survival without the need for adjuvant therapy [28]. A retrospective comparison
of thoracoscopic and open approaches to resection found similar local control and disease-
free survival at a mean follow-up of 25 months, but the former was associated with a
significantly shorter hospital stay [29].
Survival
The overall survival for thoracic neuroblastomas is much better than for abdominal or
pelvic disease, Survival rates of 77% [30], 88% [31] and 100% [32]. By way of comparison,
the current survival rate for children with high risk non-thoracic neuroblastoma is
approximately 15% [21].
Other Neural Tumors
Neurilemmoma (Schwannoma)
Neurilemmoma is a benign tumor of the Schwann cells. In childhood, they occur mainly
in the upper extremities and head and neck but can present in the posterior mediastinum [33].
They are frequently reported in patients with neurofibromatosis type II. Although usually
benign, mitotically active tumors are encountered [34]. Surgical excision is the rule for these
cases.
Neurofibroma
The commonest benign pediatric neurogenic tumor [35]. They are usually solitary lesions
but may be multiple in neurofibromatosis type I. Neurofibromatosis type 1 affects
approximately 1 in 2500 general population and is associated with Recklinghausen disease,
peripheral neurofibromas, plexiform neurofibromas, and pheochromocytoma [35]. Although
surgical excision will be curative for solitary lesions if resection is complete, this is frequently
not possible. Debulking surgery is performed for symptomatic tumors, and multiple
interventions are often required.
Neurofibrosarcoma
Rare, in 50% of the cases the tumor is associated with NF1 [36]. Malignant
transformation can occur in a previously benign neurofibroma. The treatment of choice is
surgical excision although the overall prognosis is poor, with a 70% recurrence rate including
local recurrence and distant metastases; most commonly to the lungs [36]. Complete the
resection conferred a slightly better survival rate (34% vs 27%).
Enteric Duplication Cysts Esophageal Duplications
Enteric cysts arise from a failure of coalescence of vacuoles early in the development of
the foregut. They are lined by esophageal or gastric epithelium surrounded by smooth muscle.
Gastric mucosa is often present. Although commonly integral to the wall of the esophagus,
they may communicate with the esophagus or can be completely separate from it. A large
number of thoracoabdominal enteric cysts have been reported, either ending blindly in the
abdomen or connecting with the lumen of the stomach, jejunum, ileum, or pancreatic duct.
Biliary reflux during bronchoscopy was reported in a case of an enteric duplication cyst that
penetrated the diaphragm and connected the carina with the biliary tree [8]. There is a 12%
incidence of associated malformations. Most of these are additional enteric duplications. Two
cases of prenatally diagnosed intrathoracic enteric duplication cyst associated with hydrops
have been treated with placement of a thoracoamniotic shunt in utero [8].
In most series, enteric cysts are asymptomatic at presentation. Chest radiograph and CT
allow the diagnosis. Treatment consists of complete surgical excision either by thoracotomy
or thoracoscopy. Esophageal integrity should be preserved.
Neurenteric Cysts (Meningocele)
Neurenteric cysts are unusual Foregut duplications that have connections to the spinal
canal, sometimes with the dura. The coexistence of a posterior cystic mediastinal mass and an
adjacent hemivertebrae should raise suspicion of a neurenteric cyst as well as anterior
myelomeningocele. Neurenteric cysts are thought to form early in development when the
notochord and foregut are in apposition, either by a failure of complete separation or by the
herniation of foregut endoderm into the dorsal ectoderm. Gastric mucosa can be present, so
features of inflammation and ulceration may occur.
Symptoms include pain or neurologic findings (or both). MRI is indicated when a
posterior mediastinal mass is associated with vertebral anomalies. Prompt excision is
mandatory. Paraplegia and death due to meningitis have been reported.
Although some authors report leaving the neural connections intact, most recommend
total excision with simultaneous laminectomy if necessary [8].
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[3] N. Scott Adzick and Diana L. Farmer Cysts of the Lungs and Mediastinum. Pediatric
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[4] Samuel M, Spitz L, Deleval M, et al. Mediastinal thymic cysts in children. Pediatr Surg
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[5] Wagner CW, Vinocur CD, Weintraub WH, et al. Respiratory complications in cervical
thymic cysts. J Pediatr Surg 1988;23:657-60.
[6] Takeda S, Miyoshi S, Akashi A, et al. Clinical spectrum of primary mediastinal tumors:
a comparison of adult and pediatric populations at a single Japanese institution. J Surg
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[7] Kaplinsky C, Mor C, Cohen IJ, Goshen Y, Yaniv I, Tamary H, Jaber L, Stark B, Stern
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[8] Juan A. Tovar, Anterior Mediastinal Tumors, Pediatric Thoracic Surgery, Dakshesh H.
Parikh, David C.G. Crabbe Alexander W. Auldist, Steven S. Rothenberg Editors
Spinger 2009.
[9] Weidner N, Germ Celltumors of the mediastinum. Semin Diagn Path 1999;16:42-50.
[10] Shragia L, Paek BW, Feldstein VA, et al. Outcome of prenatally diagnosed solid fetal
tumors. J Pediatr Surg 2001;36:1244-7.
[11] Dehner LP. Germ cell tumors of the mediastinum. Semin Diagn Pathol 1990;7:266-84.
[12] Billmire D, Fernandez CV, Cummings E, et al. Mediastinal germ cell tumors: An
intergroup study. J Pediatr Surg 2001;36:18-24.
[13] Brassesco MS1, Valera ET, Lira RC, Torres LA, Scrideli CA, Elias J Jr, Teixeira SR,
Tone LG Mucoepidermoid carcinoma of the lung arising at the primary site of a
bronchogenic cyst: clinical, cytogenetic, and molecular findings. Pediatr Blood Cancer.
2011 Feb;56(2):311-3. doi: 10.1002/pbc.22872.
[14] Konobu T, Saitoh Y, Umemoto M, Nakao Y, Imamura H, Okamura A. A case of
recurrent bronchogenic cyst 15 years after initial operation. Nihon Kyobu Geka Gakkai
Zasshi. 1997 Sep;45(9):1557-61.
[15] Fishman SJ. Vascular anomalies of the mediastinum. Sem Pedi Surg 1999;8:92–8.
[16] Lee AC, Kwong YI, Fu KH, Chan GC, Ma L, Lau YL. Disseminated mediastinal
carcinoma with chromosomal translocation (15;19). A distinctive clinicopathologic
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[17] Brown LR, Reiman HM, Rosenow EC, 3rd, Gloviczki PM, Divertie MB. Intrathoracic
lymphangioma. Mayo Clin Proc 1986; 61:882–92.
[18] Alqahtani A, Nguyen LT, Flageole H, Shaw K, Laberge JM. 25 years’ experience with
lymphangiomas in children. J Pediatr Surg 1999; 34:1164–8.
[19] Granata C, Fagnani AM, Gambini C, et al. Features and outcome of neuroblastoma
detected before birth. J Pediatr Surg 2000; 35: 88–91.
[20] Acharya S, Jayabose S, Kogan SJ, et al. Prenatally diagnosed neuroblastoma. Cancer
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[21] Brodeur GM, Maris JM. Neuroblastoma. In: Pizzo PA, Poplack DG, editors. Principles
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2006:933–970.
[22] Brodeur GM, Pritchard J, Berthold F, et al. Revisions of the international criteria for
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[23] Cecchetto G, Mosseri V, De Bernardi B, et al. Surgical risk factors in primary surgery
for localized neuroblastoma: the LNESG1 study of the European International Society
of Pediatric Oncology Neuroblastoma Group. J Clin Oncol 2005; 23: 8483–8489.
[24] Suita S, Tajiri T, Higashi M, et al. Insights into infant neuroblastomas based on an
analysis of neuroblastomas detected by mass screening at 6 months of age in Japan. Eur
J Pediatr Surg 2007; 17: 23–28.
[25] D’Angio GJ, Evans AE, Koop CE. Special pattern of widespread neuroblastoma with a
favorable prognosis. Lancet 1971; 1(7708): 1046–1049.
[26] Kiely E. A technique for excision of abdominal and pelvic neuroblastomas. Ann Royal
Col Surg Engl 2007; 89: 342–348.
[27] Kushner BH, Cheung NK, LaQuaglia MP, et al. International neuroblastoma staging
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[28] De Cou JM, Schlatter MG, Mitchell DS, Abrams RS. Primary thoracoscopic gross total
resection of neuroblastoma. J Laparoend Adv Surg Tech Pt A 2005;15: 470–473.
[29] Petty JK, Bensard DD, Partrick DA, et al. Resection of neurogenic tumors in children:is
thoracoscopy superior to thoracotomy? J Am Col Surg 2006;203: 699–703.
[30] Haberle B, Hero B, Berthold F, von Schweinitz D. Characteristics and outcome of
thoracic neuroblastoma. Eur J Pediatr Surg 2002; 12: 145–150.
[31] Adams GA, Shochat SJ, Smith EI, et al. Thoracic neuroblastoma: a Pediatric Oncology
Group study. J Pediatr Surg 1993; 28: 372–377.
[32] Horiuchi A, Muraji T, Tsugawa C, et al. Thoracic neuroblastoma: outcome of
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[33] Das Gupta TK, Brasfield RD, Strong EW, Hajdu SI. Benign solitary Schwannomas
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Surg 2003; 38: 343–346.
Chapter 26
LIVER TUMORS

and Sofien Ghorbel3, MD, PHD
1
2
Formely Pediatric Surgery Assistant Professor, Tunis School of Medecine,
University El Manar Tunisia Special Registrar,
Hospital Robert Ballanger, Aulnay sous bois France
3
Formely Pediatric Surgery Professor, Tunis School of Medecine,
University El Manar, Tunis, Tunisia
Keywords: Hepatoblastoma, Hepatocarcinoma, Benign liver tumors, management, prognosis
INTRODUCTION
Liver tumors constitute less than 3% of tumors seen in the pediatric population, they
comprise a large variety of different entities. Hepatoblastoma is the most frequent, other liver
malignancies in children include sarcomas, germ cell tumors, and rhabdoid tumors, as well as
the more familiar hepatocellular carcinoma. Benign tumors of the liver in children include
vascular tumors, hamartomas, adenomas, and focal nodular hyperplasia.
The histology and anatomy of a pediatric liver tumor guides the treatment and the
prognosis.
Epidemiology
Primary liver tumors have an annual rate of 0.5% to 2.5% per million population in
Western countries [1, 2].
Approximately 70% of them are malignant. Primary malignant liver tumors constitute
about 1.1% of childhood malignancies and are the tenth most common pediatric cancer [3].
Entities
Different entities are included, tumors can be malignant or benign. The following table
summarizes the different etiologies of liver tumors in children. (Figure 1)
Figure 1. Different pediatric liver tumors.
MALIGNANT LIVER TUMORS

Hepatoblastoma
Hepatoblastoma accounts for about 80% of the malignant liver tumors in children, it
comprises 1% of all pediatric malignancies [4]. The annual incidence is 0.05–0.15 patients
per 100 000 population in subjects aged <15 years [5, 6].
Most hepatoblastomas develop before the age of 3 years, with a median age of 18
months. About 4% are present at birth and 69% by the end of 2 years of age [7].
Hepatoblastoma is associated with a number of syndromes, malformations and clinical
conditions, which are summarized in Table 1.
Table 1. Conditions associated with hepatoblastoma [7]
Beckwith-Wiedemann syndrome Isosexual precocity

Budd-Chiari syndrome Polyposis coli families
Gardner’s syndrome Trisomy 18
Hemihypertrophy Type 1a glycogen storage disease
Heterozygous α1 antitrypsin deficiency Very low birth weight
Liver Tumors 287
Pathology
Hepatoblastoma can be variably differentiated and present either as a purely epithelial or
as a mixed epithelial and mesenchymal neoplasm characteristically containing hematopoietic
foci.
The epithelial components can be highly differentiated as fetal hepatoblastoma with well
organized cellular cords or poorly differentiated and more aggressively growing embryonal
hepatoblastoma, resembling the corresponding stages of the developing liver.
The 6 histologic subtypes of the tumor are summarized in Table 2.
Table 2. Histologic subtypes of hepatoblastoma [7]
Pure fetal
Embryonal
Macrotrabecular
Small cell undifferentiated
Mixed epithelial and mesenchymal pattern
With teratoid features
Without teratoid features
Children with hepatoblastoma most commonly present with an asymptomatic abdominal
mass that is noted by the parents or the pediatrician. Rarely a tumor rupture can occur leading
to significant hemorrhage and hypovolemia.
Sexual precocity can reveal the tumor, it is secondary to human chorionic gonadotrophin
produced by the tumor.
Laboratory Studies
Anemia and throbocytosis are often found in patients with hepatoblastoma.
The most important tumor marker is the alpha-fetoprotein (AFP), it is highly elevated in
80% to 90% of hepatoblastomas. It is important to consider wide range of AFP during the
first years of life, with normal levels exceeding 500,000 ng/mL in neonates and 300 ng/mL in
3-year-old children.
Recently, a new marker for hepatoblastoma has been found: Glypican 3 (GPC3), which is
expressed by fetal, embryonal, and small cell undifferentiated hepatoblastomas.
Imaging
The first diagnostic test for suspected tumor in the liver is ultrasound: the tumor can be
clearly localized to the liver and its internal structure can be detected. Adding Doppler
technique, the tumor’s relationship to neighboring vessels and probable vascular invasion or
thrombi can be visualized.
The size and borders of a liver tumor and its resectability can be better determined by CT
(Figure 2) or MRI scan, the latter giving better contrast between normal liver and neoplastic
tissue. With these techniques, the lesion can be identified as either solitary or multifocal, solid
or cystic, with homogeneous or rather inhomogeneous internal structure, with or without
sharp margins to the surrounding liver, invasion into vessels or extrahepatic structures, a
characteristic uptake of contrast medium, and possible enlargement of lymph nodes.
Figure 2. CT scan hepatoblastoma in the left liver.
Staging
Two staging systems are currently used. A combined histologic and surgical staging
system is used by the Children’s Oncology Group (COG). (Table 3)
Table 3. The Children’s Oncology Group COG
Traditional COG (Evans) staging system Current COG Risk Stradification

Stage I: complete gross resection at diagnosis with clear Very low risk: pure fetal histology, resected at
margins. diagnosis (stage I/II).
Stage II: complete gross resection at diagnosis with Low risk: any histology resected at diagnosis (stage
microscopic residual disease at the margins of I/II).
resection.
Stage III: biopsy only at diagnosis, or gross total Intermediate risk: stage III tumors (includes SCU
resection with nodal involvement, or tumor spill or histology).
incomplete resection with gross intrahepatic disease.
Stage IV: metastatic disease at diagnosis. High risk: stage IV tumors, AFP<100 at diagnosis.
The second staging system, used by the International Society of Pediatric Oncology
(SIOP), is based on the radiologic location of the tumor before treatment, and called the
PRETEXT (Pretreatment extent of disease) grouping system (Figure 3).
Figure 3. PRETEXT staging system [8] (M : metastases, V : Ingrowth vena cava, P: Ingrowth vena
porta, E: extrahepatic extension).
Liver Tumors 289
Management
In the United States, primary resections are recommended whenever the imaging studies
indicate the potential for complete excision without endangering the patient. This avoids the
toxicity of chemotherapy.
A completely resected tumor, without the presence of metastatic disease, is deemed stage
I. If after resection pathology shows pure fetal histology, close observation is recommended.
For all other histologies and for stage 2 disease (microscopic residual after surgery), 4
cycles of a combination of cisplatin, 5-fluorouracil, and vincristine (C5V) are given. For a
tumor deemed unresectable at diagnosis (stage III) or a patient with metastatic disease (stage
IV), current therapy in the United States consists of 4 cycles of chemotherapy, with either
resection or liver transplantation after cycle 4, followed by 2 more cycles.
The current recommendations of the Children’s Oncology Group are to start with C5V
for 2 cycles. If there is poor response (little or no tumor shrinkage or an inadequate drop in
serum alpha-fetoprotein), doxorubicin should be added to the regimen.
SIOPEL recommends that all patients get at least 2 courses of chemotherapy prior to
surgery.
Chemotherapy generally includes cisplatin alone or in combination with doxorubicin
(PLADO) for standard-risk tumors and cisplatin, doxorubicin, and carboplatin for highrisk
tumors.
Patients are reevaluated after 2 cycles for surgical planning, with resection or
transplantation occurring after cycle 4 if possible.
Postoperative chemotherapy is dependent on the number of cycles given prior to the
surgery.
Liver transplantation is recommended when complete tumor excision by partial
hepatectomy is unlikely,
Another therapy being used with variable success in children whose tumors are
unresponsive to systemic chemotherapy is direct arterial chemotherapy and/or
chemoembolization.
Nonanatomic wedge resections with a satisfactory margin may be feasible in the
uncommon instance of a small peripheral or pedunculated lesion.
More frequently, a major anatomic resection is required. The major hepatic resections
include* left lateral lobectomy with removal of segments II and III,
* Left hepatic lobectomy (II, III, IV),
* extended left hepatectomy (II, III, IV, V, VIII),
* right hepatic lobectomy (V, VI, VII, VIII),
* extended right hepatectomy or right trisegmentectomy (IV, V, VI, VII, VIII)
* central hepatic resection (IV, V, VIII).
Segment I can also be resected during extended right or left hepatectomy to achieve
tumor clearance.
Hepatocellular Carcinoma
Hepatocellular carcinoma is the second most common pediatric liver tumor, occurring
about 19% of the time and represents less than 0.5% of all pediatric malignancies.
Its relative frequency is 0.5 to 1.0 cases per million children [10, 11].
The peak incidence is between 10 and 15 years [7].
Hepatocellular carcinoma in children is associated with a variety of metabolic, familial
and infectious disorders. These disorders are summarized in Table 4.
Table 4. Conditions associated with hepatocellular carcinoma in children
α 1 antitrypsin deficiency
Anomalies of abdominal venous drainage
Alagille syndrome
Biliary atresia
Congenital hepatic fibrosis
Familial hepatocellular carcinoma
Familial polyposis
Focal nodular hyperplasia of the liver
Gardener’s syndrome
Hepatic adenoma
Hepatitis B infection
Hepatitis C infection
Hereditary tyrosinemia
Pathology
HCC presents grossly as solitary or multiple (multifocal) lesions. The size can vary from
2 to 25 cm.
Microscopically, tumors exhibit a trabecular growth pattern with intervening sinusoidlike
vascular channels and a reduced reticulin network.
Clinical presentation
Abdominal mass or abdominal pain are the most common symptoms, nausea, vomiting,
anorexia or a significant weight loss can be associated.
Tumor rupture and hemoperitoneum are seen primarily in 10% of the cases [7].
Laboratory tests
A mild elevation in glutamic oxaloacetic transaminase (SGOT) and lactic dehydrogenase
(LDH) can be seen.
The AFP is elevated in about 85% of patients.
Imaging
Ultrasound is insensitive for the diagnosis of HCC in the cirrhotic liver and should not be
used for the detection of focal liver lesions.
CT scan and MRI are sensitive, they can delineate the mass and determine its
respectability.
Interval growth is probably the best indicator of malignancy.
Liver Tumors 291
Management
Hepatocellular carcinoma is relatively chemotherapy resistant and therefore carries a poor
prognosis.
Complete surgical resection or hepatectomy and transplantation for tumor localized to the
liver is often the only hope.
Unfortunately, HCC is most often advanced at diagnosis, and cure is rarely possible in
case of metastatic disease. Even with aggressive attempts at surgical resection, tumor relapse
is common.
Hepatic Sarcoma
Sarcoma of the liver (undifferentiated sarcoma) or of the biliary tree

(rhabdomyosarcoma) represent the third most common malignant liver tumor in children.
Undifferentiated (mesenchymal or embryonal) sarcomas are heterogenous (solid and
cystic) tumors usually seen in older children; spontaneous hemorrhage and/or necrosis may be
seen.
Rhabdomyosarcoma of the bile ducts arises from major bile ducts in or near the porta
hepatis and is seen in younger children. Grossly, it presents as a botryoid, gelatinous mass
occluding the lumen of the major bile ducts with dilatation of the intrahepatic bile ducts.
Clinical presentation of hepatic sarcoma is usually with weight loss and abdominal
dilation, while biliary rhabdomyosarcoma usually presents with obstructive jaundice.
The outcome depends primarily on tumor histology, sensitivity to chemotherapy and/or
radiotherapy, and the ability to achieve complete tumor resection.
BENIGN LIVER TUMORS

Hepatic Hemangioma
Hepatic hemangiomas are the most common benign liver tumor in children comprising
about 16% of all pediatric liver tumors [7]. It is also the most common liver tumor in the first
year of life, and most of the lesions are identified in the newborn period or during prenatal
ultrasound screening.
The presentation, treatment and prognosis differ depending on the type of hemangioma:
focal, multiple or diffuse.
Focal Hepatic Hemangioma

They are usually asymptomatic. Some of the children will have cutaneous hemangiomas
as well.
Many focal lesions can be detected antenatally on routine prenatal ultrasonography.
CT scan shows contrast enhancing in the periphery of the mass with little contrast in the
center.
On MRI, there is a solitary liver lesion that is hypodense on T1-weighted sequences and
hyperintense on T2-weighted sequences compared with normal liver.
These lesions usually do not need treatment, and generally regress spontaneously by
1 year of age.
Multiple Hepatic Hemangioma

Many multifocal lesions are asymptomatic and are only detected upon postnatal
screening imaging (because of the presence of multiple cutaneous hemangiomas), while some
are associated with highoutput cardiac failure secondary to arteriovenous or portovenous
shunting.
Multifocal hepatic hemangiomas demonstrate Glut-1 immunoreactivity
On computed tomography, they are hypodense lesions with uniform or centripetal
enhancement.
MRI shows widely dispersed, homogeneously enhancing spherical tumors, hypointense
relative to the liver on T1 sequencing and hyperintense on T2-weighted sequencing [12].
Flow voids may be present in the lesions and may indicate the presence of arteriovenous
shunts.
Treatment by corticosteroids of patients with multifocal hepatic hemangioma is highly
successful, but if steroids fail embolization of the shunts may be necessary [13].
Diffuse Hepatic Hemangioma

This form is rare.
Diffuse lesions frequently replace nearly all of the hepatic parenchyma with innumerable
lesions showing centripetal enhancement on MRI or CT.
The clinical course is more complicated and potentially lethal.
Massive hepatomegaly causes compression of the inferior vena cava and thoracic cavity,
resulting in respiratory compromise.
This mass effect can be so marked as to cause abdominal compartment syndrome and
multiorgan system failure.
Severe hypothyroidism may develop because of overproduction of type III iodothyronine
deiodinase. Hypothyroidism of this degree can cause cardiac failure (poor contractility with
low output) and profound mental retardation in the developing infant.
If corticosteroid therapy does not result in rapid improvement, then liver transplantation
should be considered early, because the prognosis is otherwise poor. Medical therapy with
vincristine has shown some success, but this option is often limited by the rapid clinical
deterioration of children with diffuse lesions.
Interferon therapy has been abandoned because of the risk of spastic diplegia in infants
[12, 13].
Mesenchymal Hamartoma
After hemangiomas, mesenchymal hamartoma is the second commonest benign hepatic

tumor in childhood. Most hamartomas are large benign multicystic masses that present in the
first 2 years of life [14, 15].
Mesenchymal hamartoma of the liver can be detected by prenatal ultrasound (US), most
often in the last trimester of pregnancy [16]. Maternal serum a-fetoprotein (aFP) and/or b
human chorionic gonadotrophin may be elevated [17, 18], and there may be polyhydramnios.
Liver Tumors 293
The tumor can cause respiratory distress or apnea in newborns. High-output cardiac
failure has been reported in several infants.
There are isolated case reports of mesenchymal hamartoma causing pulmonary
hypertension, vascular steal and thrombocytopenia, perinatal tumor rupture with ascites,
obstructive jaundice, and fatal bleeding into the tumor after birth trauma. In the newborn, the
tumor may expand rapidly to cause life-threatening abdominal distension [19].
Typically, the mesenchymal hamartoma of the liver is found incidentally on physical
examination or imaging, or with abdominal distension and/or an upper abdominal mass.
Examination reveals a large, nontender, firm, and smooth liver tumor. There may be
visibly engorged veins over the anterior abdominal wall and, rarely, lower limb edema from
inferior vena cava compression.
Abdominal sonography and CT demonstrate a single, usually large, fluid-filled mass with
fine internal septations and no calcifications.
Mesenchymal hamartoma usually follows a benign course, although there have been
reports of malignant transformation.
In general, complete operative resection is the procedure of choice, if it can be
accomplished safely. Huge lesions or those that involve both lobes may be treated by
unroofing and marsupializing the cysts, although the lesion may recur after incomplete
resection.
Focal Nodular Hyperplasia
Focal nodular hyperplasia accounts for about 10% of pediatric hepatic tumors, with a
maximum frequency at 7 years of age [7].
The majority of these tumors are discovered incidentally, but the most common
symptoms are abdominal pain or abdominal mass.
Hepatomegaly is a common finding, and liver function test abnormalities are possible.
Focal nodular hyperplasia can be associated with a variety of conditions, including
previous trauma to the liver, other liver tumors, hemochromatosis, Klinefelter’s syndrome or
the use of itraconazole.
On CT scan, the classic findings are early enhancement of the lesion and the presence of
a central scar.
MRI can help delineate the lesion by specifically looking for this central scar.
If the patient is asymptomatic, the lesion must be followed with serial ultrasonography.
But if the patient is symptomatic, the lesion is greater that 5cm, a progression of the mass is
seen, or the diagnosis is not clear, a biopsy or a resection of the lesion should be performed.
Hepatocellular Adenoma
Hepatocellular adenoma is a very rare hepatic tumor in children.

Often asymptomatic, the lesions are discovered incidentally. Occasionally, they can
produce intermittent abdominal pain, and rarely a spontaneous rupture resulting in
hemoperitoneum and acute volume depletion.
On ultrasonography, the lesions can have a hyperechoic, hypoechoic, or a mixed echoic

pattern depending on whether it is a simple adenoma, an adenoma with fatty metamorphosis,
or an adenoma with hemorrhagic necrosis.
If the adenoma is larger than 5 cm, or the diagnosis uncertain, surgical excision is
recommended.
In case of ruptured adenoma, non-operative monitoring is recommended if the patient is
hemodynamically stable, then elective resection is performed. If the patient is unstable,
hepatic arterial embolization is performed.
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flow cytometric analysis of eight cases. Cancer 1994; 74:1237- 42.
Liver Tumors 295
[16] Foucar E, Williamson RA, Yiu-Chiu V, et al. Mesenchymal hamartoma of the liver
identified by fetal sonography. AJR Am J Roentgenol 1983;140:970- 2.
[17] Dickinson JE, Knowles S, Phillips JM. Prenatal diagnosis of hepatic mesenchymal
hamartoma. Prenat Diagn 1999;19:81- 4.
[18] Kitano Y, Ruchelli E, Weiner S, et al. Hepatic mesenchymal hamartoma associated
with mesenchymal stem villous hyperplasia of the placenta. Fetal Diagn Ther
2000;15:134- 8.
[19] Mesenchymal hamartoma of the liver: A systematic review Mark D. Stringer*, Naved
K. Alizai.
Chapter 27
LYMPHOMA
Chaima Mrad1, MD, Taieb Chouikh2,3,4, MD

1
Sousse School of Medecine, Ibn Al Jazzar University, Sousse, Tunisia
2
Tunis School of Medecine, University El Manar, Tunisia
3
Department of Paediatric Surgery, Hôpital Universitaire,Necker Enfants Malades,
Paris, France
4
ABSTRACT
Lymphoma is the most common small bowel tumor in the pediatric population. The
diagnosis is suspected on abdominal mass on the clinical exam and cytopenia on the
laboratory tests. Chemotherapy is the therapeutic of choice of this tumor. The diagnosis
can be made during the surgical exploration of an acute abdomen with non-specific
features.
Keywords: abdominal masse, acute pain, small intestine, Burkitt lymphoma
INTRODUCTION
Lymphoma is the most common small bowel malignancy in children, with high-grade
non-Hodgkin lymphoma comprising 74% of these tumors.
Burkitt lymphoma constitutes the most common histologic subtype.
The different histologic subtypes of Hodgkin’s and non-Hodgkin’s lymphoma located in
the abdomen are summarized in Tables 1 and 2.
The majority of patients (50% to 93%) present with lymphoma localized to the distal
small bowel, but tumor may occur anywhere from the stomach to the rectum [1].
Abdominal primary non-Hodgkin lymphoma occur more often in children younger than
10 years.
Table 1. Subtypes of Hodgkin’s lymphoma in abdominal location
Nodular sclerosis Mixed cellularity Lymphocyte predominant

Upper abdomen 13% 18% 5%
Lower abdomen 8% 17% 8%
Table 2. Subtypes of non-Hodgkin’s lymphoma in abdominal location
Small non-cleaved cell Lymphoblastic Large cell lymphoma

lymphoma lymphoma
Abdomen 74% 3% 23%
These lesions are usually located near the ileocaecal valve, where the density of gut-
associated lymphoid tissue is higher.
Epstein-Barr virus is sometimes an aetiological factor, particularly in immunosuppressed
patients.
Children with primary abdominal location of lymphoma may present with nausea,
vomiting, abdominal pain, changes in bowel habits, or an abdominal mass.
They may also present with an acute abdomen due to either intussusceptions in 46% of
the cases (due to infiltration of Peyer’s patches), or small bowel obstruction (8%), perforation
of an involved bowel wall (11%), or an ileocecal mass mimicking acute appendicitis(22%)
[2].
LABORATORY TESTS
Generally, patients have an elevated C-reactive protein (CRP) level. If there is a large
tumor, LDH levels can be high, as well as uric acid, phosphorus and potassium level, which
are indicators of tumor lysis. Some patients may be in renal failure and have elevated
creatinine. Hematologic values are nonspecific, and the presence of cytopenia should raise the
suspicion of marrow involvement.
IMAGING
Radiologic evaluation with ultrasonography or CT scan reveals a homogeneous mass
arising either from the retroperitoneum or from the bowel wall.
Accompanying adenopathy and metastatic dissemination to the liver and spleen is often
seen. The bowel loops may be shifted away from the mass, or may show evidence of
intussusception or obstruction.
Lymphoma 299
DIAGNOSIS AND PATHOLOGY [3]

No clinical findings are pathognomonic for Hodgkin’s or non- Hodgkin’s lymphoma.
The biopsy, most commonly an excision of lymph node or percutaneous needle biopsy
will make the diagnosis. In the Burkitt lymphoma the neoplastic cells are uniform and
medium-sized (their nuclei are no larger than the nuclei of admixed histiocytes), with round
nuclei and several or multiple small basophilic nucleoli. Cytoplasm is moderately abundant,
and with formalin fixation there may be slight cytoplasmic retraction, leading to squared-off
edges between neighboring cells. The RNA-rich cytoplasm is deep blue on Giemsa or Wright
stain and usually shows multiple vacuoles because of the presence of lipid, when marrow
aspirates or Wright-stained touch preps are available. The mitotic rate is unusually high.
Characteristically there are numerous admixed tingible body macrophages, phagocytosing
abundant apoptotic debris, creating a starry-sky pattern.
Most cells express surface immunoglobulin M (either kappa or lambda light chain) but
they do not express terminal deoxynucleotidyl transferase (TdT). Almost all tumors are CD10
positive. Chromosomal translocation (usually t(8;14), sometimes t(8;22) or t(2;8)) are
characteristic of these tumors. The translocation places the c-myc gene, a cellular
proliferation gene, near the immunoglobulin regulatory locus, which often results in
inappropriate expression of c-myc.
CLASSIFICATION
The most widely used clinical staging system was developed at the St. Jude Children’s
Research Hospital in Memphis, USA: Table 3.
TREATMENT
Chemotherapy is the therapeutic backbone for children with Hodgkin’s and non-
Hodgkin’s lymphoma.
A large number of chemotherapy combinations can be used depending on the stage of the
disease.
Although lymphomas are very radiosensitive neoplasms, the recent focus is to eliminate
irradiation completely in the treatment of children with Hodgkin’s and non- Hodgkin’s
lymphoma.
There are no indications for performing major tumour resections or debulking
procedures, since chemotherapy is so effective and major surgery delays may complicate
chemotherapy.
Complete resection should be done only, if possible and without any risk or functional
loss for the patient.
Only in children with ileocecal intussusceptions due to Burkitt’s lymphoma complete
resection of the involved bowel segment is advised.
When operating for a complication of intraperitoneal disease, the extent of the procedure
should be limited to resolution of the complication and resection of sufficient tissue to ensure
an accurate diagnosis.
If limited disease is encountered, complete resection and an evaluation of mesenteric,
perihepatic, and periaortic nodes should be undertaken to assess for regional metastatic
spread.
RESULTS [4]
Children with Stage I non-Hodgkin disease have 90-95% long-term survival with
multiple drug chemotherapy with or without radiation therapy.
Stage II patients have a 75% survival rate.
In advanced cases, a multiple drug program offers about 70% relapse-free survival.
Patients with refractory disease or relapses are treated by autologous or allogeneic bone
marrow transplantation.
The overall five-year survival in children with Hodgkin lymphoma is close to 90%.
Figure 1. St. Jude Children’s Research Hospital staging system for non-Hodgkin lymphoma.
Lymphoma 301
REFERENCES
[1] Murphy, Joseph T. and Foglia, Robert P. “Pediatric Gastrointestinal Tumors,” in
Coran, A. G., Caldamone, A., Adzick, N. S., Krummel, T. M., Laberge, J. M. and
Shamberger, R. Pediatric surgery (Vol. 2). Elsevier Health Sciences. 2012, pp. 483-490.
[2] Lewing, Karen B., Gamis, Alan S., “Lymphomas” in George W. Holcomb, J. Patrick
Murphy. Pediatric surgery. Philadelphia: Saunders, (2005).
[3] Ehrlich, Peter F., “Hodgkin Lymphoma and Non-Hodgkin Lymphoma” in Coran, A. G.,
Caldamone, A., Adzick, N. S., Krummel, T. M., Laberge, J. M. and Shamberger, R.
Pediatric surgery (Vol. 2). Elsevier Health Sciences. 2012, pp. 517-527.
[4] Friberg, Lars Göran and Bambini, Daniel A., “Non-Hodgkin’s Lymphoma” in Robert
M. Aresman, Daniel A. Bambini, P. Stephen Almond, Pediatric surgery. Georgetown,
Texas USA: LANDES BIOSCIENCE, 2000. pp. 215-219.
Chapter 28
PELVIC TUMORS

1
Pediatric Surgery Resident, Sousse School of Medecine, Ibn Al Jazzar University,
Sousse, Tunisia
2
Department of Paediatric Surgery, Hôpital Universitaire Necker Enfants Malades,
Paris, France
3
Formely Pediatric Surgery Professor, Tunis School of Medecine, University El Manar,
Tunis, Tunisia
ABSTRACT
The most common pelvic tumors in the pediatric population are
rhabdomyosarcomas, sacrococcygeal teratoma, teratomas, and ovarian tumors. Genetic,
identification, histology type, location, and extension of the tumors represent the most
important prognosis factors in the management of the pelvic tumor. The chemo
sensibility of most of these lesions changed their surgical approach. The survival rates
have improved during the last decades with the most current protocol therapy.
Keywords: ovarian tumors, teratomas, acute pain, rhabdomyosacoma, abdominal extension
OVARIAN TUMORS
Ovarian tumors include a heterogeneous group of benign and malignant lesions. Their
clinical presentation can vary based on age of the patient, size of the tumor, hormonal
activity, histology and local spread or metastasis. Thus, the diagnostic methods and surgical
treatments for these tumors are heterogeneous.
Epidemiology
Ovarian masses are uncommon in children, with an estimated annual incidence of

2.6/100,000 girls [1]. The majority of these tumors are benign neoplasms or non-neoplastic
cysts [2, 3]. Approximately 10–20% of ovarian masses are malignant, accounting for less
than 1% of all pediatric cancers [4, 5].
The most significant risk factor for ovarian cancer is the genetic predisposition. The
tumor suppressor genes BRCA1 and BRCA2 are responsible for 70–90% of familial cases of
ovarian malignancy [6].
Some syndromes can be associated with ovarian tumors, including Basal cell nevus
syndrome, Chediak-Higashi syndrome, Maffucci’s syndrome, Muir-Torre Syndrome,
McCune-Albright syndrome, Ollier’s syndrome, Peutz-Jeghers syndrome (Figure 1).
The clinical signs are nonspecific. The most common complaint is a vague abdominal
pain. The pain may be subacute, abdominal and pelvic, sometimes recurrent, and may or may
not be accompanied by gastrointestinal signs such as nausea or vomiting or urinary signs such
as pollakiuria or dysuria.
Acute abdominal or pelvic pain can occur due to tumor torsion, hemorrhage or rupture.
Large tumors can cause compression of adjacent organs causing cramping pain,
constipation, or urinary symptoms. Abdominal distention can also be due to ascites; vaginal
bleeding is uncommon.
The physical examination is usually revealing for an abdominal mass in children or
pelvic mass in adolescents.
HNPCC – Hereditary non-polyposis colorectal cancer.

a
Figure 1. Syndromes associated with ovarian tumors.

Pelvic Tumors 305
Marker Associated tumor

CA 125 Epithelial tumors (especially serious)
Immature teratoma (rare)
a-Fetoprotein Endodermal sinus tumors
Embryonal carcinomas
Mixed germ cell tumors
Immature teratoma (rare)
Polyembryoma (rare)
Human chorionic gonadotropin Choriocarcinoma
Embryonal carcinomas
Polyembryoma
Dysgerminoma (rare)
Carcinoembryonic antigen Serious tumors
Mucous tumors
Lactate dehydrogenase Dysgerminoma
Estradiol Thecomas
Adult granulosa cell tumors
Testosterone Sertoli cell tumors
Leydig (hilus) cell tumors
F9 embryoglycan Embryonal carcinoma
Immature teratoma
Inhibin Granulosa-theca cell tumor
Müllerian inhibiting substance Granulosa-theca cell tumor
Figure 2. Tumor markers and associated tumors [7].
A fluid shift may be detected in the presence of ascites. Pelvic examination is reserved
for sexually active patients. Endocrine manifestations can occur, and feminization, and
estrogen-producing ovarian tumors are more common than virilization.
Abnormal estrogen secretion leads to isosexual precocity in young pubertal girls: rapid
breast development with vaginal bleeding and enlargement of the uterus are the most
common initial manifestations.
Virilizing tumors are associated with rapid hirsutism, male-type muscular development,
clitoral enlargement, amenorrhea or irregular menses and breast regression.
Laboratory Tests
The first specific tumor markers for ovarian neoplasms are β-HCG, alpha-fetoprotein
(AFP), lactic dehydrogenase (LDH) and CA-125. These tumor markers can aid in the
diagnosis of certain ovarian pathologies, although they can also be elevated with other
nongynecological tumors or medical conditions. Figure 2 summarizes the different tumors
markers and their association with ovarian tumors.
Approximately 10% of ovarian masses can produce hormones. Elevated estrogen levels
from ovarian cysts or sex stromal tumors can cause precocious puberty. Sertoli-Leydig
tumors, yolk sac tumors, and polycystic ovaries can produce high levels of androgens leading
to virilization.
Imaging
Ultrasonography: [7]
Ovarian masses can be detected prenatally. Prenatal ultrasounds commonly identify fetal
abdominal cysts and are helpful in distinguishing ovarian cysts from intestinal, uterine or
genitourinary abnormalities. The US can be repeated postnatally, and it represents the first
imaging modality in abdominal and pelvic masses. Ultrasonography will be precise the nature
of the mass (fluid, solid, homogeneous or otherwise), its size and borders, its location and
relations with adjacent organs and any possible repercussions on the upper urinary tract.
Some signs may be useful in evaluating the likely benign or malignant nature of the ovarian
mass. These signs have a varying predictive value, which is increased when several elements
are found together (poorly defined borders, a thick irregular wall, thick rigid septations with
angulated junctions, growths, mainly solid component, size, local spread).
Computed Tomography
CT of the abdomen and pelvis is a valuable imaging study and useful in determining the
anatomic location and origin of the mass, extent of local involvement and possibility of
metastases.
Predictive signs of malignancy include large mass size, solid nature of the tumor,
peritoneal implants, ascites or suspicious calcifications.
Magnetic Resonance Imaging

MRI avoids radiation exposure. It is a useful adjunct in differentiating uterine tumors
from ovarian masses. It can further identify specific ovarian pathology such as dermoid cysts,
endometriomas and ovarian torsion.
Similar characteristics seen on CT can aid in distinguishing benign versus malignant
conditions.
Figure 3 summarizes the different imaging findings in ovarian tumors.
Disease Classification and Staging
Ovarian lesions are divided into nonneoplastic and neoplastic entities; the former
category includes functioning cysts, and the latter includes benign and malignant tumors.
Figures 4 and 5 show the World Health Organization classifications of non-neoplastic
and neoplastic ovarian masses.
Precise staging is based on clinical examination, surgical exploration, tissue histology,
and fluid cytology. The stage of epithelial ovarian cancer is performed at the time of surgery
using the International Federation of Gynecology and Obstetrics (FIGO) staging system of
1988 (Figure 6).
Pelvic Tumors 307
Figure 3. Radiologic findings for the most common benign and malignant ovarian lesions [6].
Figure 4. classification of non neoplastic ovarian masses [8].

Figure 5. classification of neoplastic ovarian masses [9].
Management
Benign Tumors
Ovarian Cysts
The treatment of these lesions is based on symptomatology, endocrine activity and size.
Pelvic Tumors 309
As ovarian cysts enlarge beyond 5 cm, they have an increased risk for torsion, rupture or
hemorrhage. Some cysts have an endocrine activity that can cause early isosexual
development or premature thelarche.
These lesions should be excised with preservation of adjacent ovarian tissue. The
operative approach can be through a midline laparotomy, Pfannenstiel incision or via
laparoscopy. Other indications for cyst excision include persistence or size increase over 2-3
months of surveillance or concern for malignancy.
Mature Cystic Teratomas

An ovarian preservation with cyst removal via laparoscopy or laparotomy and
postoperative surveillance is the preferred treatment.
The postoperative follow-up consists of annual pelvic ultrasound in prepubertal children
to evaluate any disease in the contralateral ovary or early signs of recurrent lesions, and
annual pelvic exam or pelvic ultrasound in postmenarchal adolescents.
Figure 6. Staging of carcinoma of the ovary.

Malignant Tumors
Malignant Germ Cell Tumors

The surgical therapy for germ cell tumors is similar regardless of the tumor type.
Operative management includes - surgical resection: unilateral oophorectomy or
salpingo-oophorectomy for optimal cure,
 intraoperative evaluation of potential tumor involvement in the contralateral ovary,

adjacent structures, regional and retroperitoneal lymph nodes, all peritoneal surfaces,
diaphragm, and liver,
 a collection of peritoneal washings for cytology,
 omentectomy.
Any suspicious lesions on the contralateral ovary are biopsied.

Preservation of fertility is considered and is dependent on extent of disease.
Chemotherapy for germ cell tumors is predominantly platinum-based. The most common
regimen consists of bleomycin, etoposide, and platinol.
Immature stage I or II teratomas can be treated with surgery only whereas higher stage
tumors will require adjuvant chemotherapy such as vincristine, actinomycin D,
cyclophosphamide with or without cisplatin.
Sex Stromal Tumors

Most patients diagnosed with juvenile granulosa-theca cell tumors present with Stage I
malignancies and have a favorable prognosis.
They are treated with a unilateral oophorectomy or salpingo-oophorectomy.
However, those with more advanced disease (stage III) require hysterectomy with
bilateral salpingo-oophorectomy, radiotherapy and multi-drug chemotherapy (carboplatin and
etoposide).
Concerning Sertoli-Leydig cell tumors, Unilateral oophorectomy or adnexal resection is
adequate therapy. Advanced stages, bilateral disease, ruptured and/or poorly differentiated
tumors require more aggressive surgical resection (similar to granulosa cell tumors) and
chemotherapy.
Gonadotropin-releasing hormone agonists and oral contraceptives can aid in treatment
during and after chemotherapy.
Epithelial Tumors
Treatment of epithelial tumors is based on the FIGO staging system.
Stage 1A disease is amenable to ovarian preservation with unilateral salpingo-
oophorectomy.
Stage IB tumors require bilateral salpingo-oophorectomy, with preservation of the uterus
for potential in-vitro fertilization.
The more advanced disease requires surgical cytoreduction, total abdominal
hysterectomy, bilateral salpingo-oophorectomy and omentectomy.
Pelvic Tumors 311
Adjuvant chemotherapy has proved to have a 60–70% response rate, but the overall 5-
year survival is only 20%. Radiation therapy for advanced epithelial tumors currently remains
controversial [6].
SACROCOCCYGEAL TERATOMA
Teratomas are unusual tumors comprised of mixed dermal elements derived from the
three germ cell layers (endoderm, mesoderm, and ectoderm). Sacrococcygeal teratoma is the
commonest teratoma (45-65%) [10] seen in children, with an incidence of 1 in 40,000 live
births [11]. They are congenital and arise from the coccygeal region and can grow into the
pelvis or externally into the caudal part or both these areas. Though the majority are benign,
malignancy is reported in some resected specimens.
Embryology and Pathology
The commonly accepted Embryonic (Blastomeric) Cell Theory suggests that these
teratomas arise from pluripotent cells from Hensen’s node, which have eluded the influence
of the primary organizer during early embryonic development. Primordial germ cells appear
during the third week of gestation in the wall of the yolk sac near the allantois. They move
along the dorsal mesentery of the hindgut, reaching the genital ridges by about the sixth week
of gestation. Germ cells that do not complete this journey can develop into teratomas.
Extragonadal teratomas tend to occur in midline structures such as the anterior
mediastinum, retroperitoneum, sacrococcygeal region, and pineal gland. They are composed
of mixed dermal elements derived from the three germ cell layers and are known to contain
virtually any tissue type including skin, teeth, endocrine structures, central nervous tissue,
respiratory mucosa and alimentary mucosa.
The tumor may comprise of cells that are entirely benign (mature teratoma) to that are
frankly malignant. A third group of cells appears malignant (usually described as
‘immature’).
The prenatal discovery by ultrasound is becoming standard. Fetal hydrops is usually the
result of a vascular steal syndrome leading to the shunting of blood away from the placenta
and causing high-output cardiac failure, the earliest signs of which are polyhydramnios and
placental thickening leading inexorably to preterm labor. Polyhydramnios, placentomegaly,
and gestational age less than 30 weeks are associated with a poor prognosis. Abdominal
delivery should be considered if the external mass is greater than 5 cm, to avoid dystocia and
rupture.
Postnatally, sacrococcygeal teratomas present in two distinct fashions: neonates with
large predominantly external lesions, which are rarely malignant; and older infants and
children who present with primarily hidden pelvic tumors with a higher rate of malignancy.
Figure 7. Declining serum alpha fetoprotein levels in normal infants [13].
Figure 8. Altman’s Classification [14].
The most common neonatal presentation is a large sacral mass that is evident at birth. The
mass may be in the midline or paramedian. The overlying skin is usually normal, but there
may be evidence of a haemangioma or necrosis with ulceration. When there is an intrapelvic
extension of tumor, the anus and vagina are pushed anteriorly. Intrapelvic tumors are often
not diagnosed until later in life when they may present with symptoms due to pressure on the
rectum or bladder.
Associated congenital anomalies are found in 20% of cases and include vertebral, renal,
cardiac and gastrointestinal abnormalities [11].
A well-recognized association is the Currarino triad of anorectal malformation, sacral
anomaly, and a presacral mass. The presacral mass is usually a teratoma or an anterior
meningocele, hamartoma, duplication cyst or a dermoid cyst [12].
Pelvic Tumors 313
Imaging
Plain X-ray of the pelvis and spine may show calcification or structures such as teeth and
bones or there may be a bony defect as in neural tube defect. Abdominal ultrasonography is
useful to determine the size and consistency of any pelvic or abdominal component.
Computed tomography (CT) scan and Magnetic resonance imaging (MRI) both will
provide more details regarding tumor size, extension, and even vascular anatomy.
Laboratory Tests
Alpha-Fetoprotein levels, which can be normally elevated in newborns, should be

obtained and then followed to ensure that they return to normal by 9 months of age (Figure
7).
Classification
Altman et al. have classified sacrococcygeal teratomas into four groups in 1974 (Figure
8).
Type I tumors are almost exclusively exterior with a minimal pelvic component.
Type II tumors have a significant pelvic component (‘hour-glass pattern’).
Type III tumors have a larger proportion of intra-abdominal and intrapelvic component
than the external component.
Type IV tumors are exclusively presacral with no external component.
Furthermore, Altman et al. also reported that type I tumors were rarely malignant (0% in
the American Academy of Pediatric Surgical Section Survey), while 6% of type II and 20%
of type III and 8% of type IV tumors were malignant. It is also well documented that most
tumors that are benign at birth can become malignant after about 2 months.
Surgical Management
The neonatal type I and II lesions can usually be approached with the child in the prone
position. The external portion of the mass is typically excised using a chevron or inverted
“v”-type incision, and circumferential dissection around the capsule is performed. The
sacrococcygeal junction is divided with the coccyx being included in the specimen, and the
middle sacral vessels being ligated.
After the mass has been separated from the rectum and the sample removed, the levator
ani muscles are attached to the presacral fascia with following skin closure.
Removal of the coccyx is an essential step (reports of a 37% recurrence rate if it was not
removed).
Given the anterior displacement caused by the large mass, the rectum is often brought
back to a more posterior location at the time of closure.
The operative approach in older infants and children is similar.
However, due to the presence of malignancy in many of these cases with an invasion of
adjacent structures or massive size, initial resection is not possible, and an initial biopsy
followed by neoadjuvant chemotherapy (cisplatin, bleomycin, and vinblastine) is the best
mode of management. Abdominal exploration is indicated when there is a large abdominal
component of tumor or when there is significant bleeding either due to tumor rupture or
vascular injury during the perineal approach.
Post-Operative Management
The infant is followed up with three monthly checks of Alpha-Fetoprotein and

examinations for 1 year to detect any recurrence.
Long-term bowel and bladder dysfunction in children following sacrococcygeal tumor
resection is also well recognized. Routine ultrasound monitoring of the renal tracts annually is
recommended by some authors. Urodynamics, anorectal manometry, and sphincter-mapping
stimulation studies must be performed as dictated by clinical symptoms.
RHABDOMYOSARCOMA
Rhabdomyosarcoma is a malignant soft tissue tumor originating from immature
mesenchymal cells that form any tissue except bone. It can arise at any site and in any tissue
except bone. The most common sites are the head and neck region and the genitourinary tract,
less frequently the extremities.
Rhabdomyosarcoma falls under the greater category of small, blue, round cell tumors of
childhood that includes neuroblastoma, lymphoma, and primitive neuroectodermal tumors.
The two major histologic subtypes of rhabdomyosarcoma are embryonal and alveolar. The
outcome is heavily dependent on age at diagnosis, the primary anatomic site, the extent of
disease (tumor size, invasion, nodal status, metastatic disease), and the completeness of
surgical excision.
Epidemiology
Rhabdomyosarcoma (RMS) is the most common type of soft tissue sarcoma in children
(more than 50%) [15], accounting for 4.5% of all cases of childhood cancer [16]. It is the
third most common extracranial solid tumor of childhood after Wilms’ tumor and
neuroblastoma. The annual incidence is of 4.6 cases per million children aged 20 years or
younger. Age at presentation follows a bimodal distribution, with peak rates between 2 and 6
years and again between 10 and 18 years of age. This distribution reflects the incidences of
the two major histologic subtypes of Rhabdomyosarcoma.
The incidence of embryonal RMS is highest at birth and extends through childhood
before declining, while alveolar RMS peaks during childhood and adolescence.The male-
female ratio is 1:1.4.
Pelvic Tumors 315
The head and neck (40%), genitourinary tract (20%), extremities (18%) and trunk (7%)
are the most common sites. The retroperitoneum (7%), perineum and other locations (8%)
have also been involved [17].
Figure 9. Histologic variants of childhood rhabdomyosarcoma: International Rhabdomyo-sarcoma

Pathologic Classification [18].
Pathology
Immunohistochemical staining can identify the presence of rhabdomyoblasts or skeletal

muscle and muscle-specific proteins.
Embryonal rhabdomyosarcoma (ERMS) is the most common type, affecting two-thirds
of all patients with RMS.
In addition to occurring in younger patients, ERMS has a favorable survival rate. ERMS
can be further broken down into spindle-cell and botryoid subtypes. Tumors occur more
frequently in the head and neck region as compared with the extremities. Spindle-cell
histology is characteristic in para-testicular lesions, whereas botryoid lesions are polypoid
masses filling the lumen of a hollow viscus, such as the vagina, bladder, and extrahepatic bile
ducts.
Alveolar rhabdomyosarcoma (ARMS) occurs in older children, and tumors are most
commonly located on the trunk or extremities. These lesions are composed of small, round,
densely packed cells arranged around spaces resembling pulmonary alveoli.
The prognosis can differ with the different histologic subtypes, as shown in Figure 9.
The clinical presentation of RMS depends on the site of origin of the primary tumor, the
age of the patient, and the presence or absence of metastatic disease. There are no classic
paraneoplastic syndromes associated with RMS. In the current chapter, we will consider the
pelvic location of rhabdomyosarcoma: RMS of the genitourinary system.
The sites that are affected include the bladder, prostate and para-testicular region in the
male and the bladder, vagina, uterus and vulva in the female.
Paratesticular RMS may present as a painless swelling in the scrotum or inguinal canal
and may initially be thought to be a hernia, hydrocele, or varicocele. Bladder tumors produce
hematuria and urinary obstruction. Prostate tumors can produce large pelvic masses resulting
in urinary frequency or constipation if significant compression of the bladder or intestinal

tract occurs.
Vaginal tumors tend to occur in very young children and present with a mass or vaginal
bleeding and discharge. Uterine tumors present in older girls and are quite extensive by the
time of diagnosis.
During the examination of the child, a full review of the pelvic region and a digital rectal
examination is mandatory. In the genitourinary tract, some of the masses may be enormous
and present as an abdominal mass. This can be an original tumor or can be due to an
obstructed bladder.
Imaging
The commonest imaging used is a plain X-ray, which may demonstrate a soft tissue mass
with calcification if hemorrhage has occurred into the tumor.
Ultrasound is another modality that can be very helpful initially to define a solid from a
cystic lesion. It identifies the origin of the tumor and detects any obstructive lesion causing an
obstructive uropathy (a large bladder and hydronephrosis).
Computerized tomography (CT) and magnetic resonance imaging (MRI) are essential in
the evaluation of the primary site and to detect any extension of the tumor and its relationship
to other surrounding structures. CT scans are very useful to confirm metastatic lung lesions in
rhabdomyosarcoma and retroperitoneal lymphadenopathy in tumors that arise in the testis.
The diagnosis of Rhabdomyosarcoma depends on open surgical biopsies. These need to
be open biopsies which should be generous so that full investigation of the tissue can take
place. There are no helpful markers or specific imaging studies.
Staging
Pretreatment staging for rhabdomyosarcoma is performed to stratify the extent of the

disease for the purpose of determining the appropriate treatment regimen as well as to
compare outcome. This classification is a modification of the TNM staging system and is
based on primary tumor site, primary tumor size, clinical regional node status, and distant
metastatic spread (Figure 10).
Management
Chemotherapy
The standard drugs used over the years have been a triple regimen of Vincristine,
Actinomycin-D, and Cyclophosphamide (VAC). Other drugs active in this disease include
Doxorubicin, Ifosfamide, etoposide, cisplatin, carboplatin, melphalan, topotecan,
methotrexate, mitomycin C. In the majority of cases the chemotherapy is successful in
shrinking tumors to allow surgical resection to take place.
Pelvic Tumors 317
Tumor: T1, confined to anatomic site of origin: (a) 5 cm diameter in size, (b) >5 cm diameter in size; T2,
extension and/or fixation to surrounding tissue: (a) 5 cmdiameter in size.
Regional nodes; N0, regional nodes not clinically involved; N 1, regional nodes clinically involved by
neoplasm; N2, clinical status of regional nodes unknown (especially sites that preclude lymph node
evaluation).
Metastasis: M0, no distant metastasis; M1, metastasis present.
Figure 10. Pretreatment staging classification [19].
Radiotherapy
Radiation therapy is used to mop up residual microscopic disease to achieve local control
or gross residual disease that surgical removal was unable to excise because of dangers to the
patient’s life. It is very effective in reducing the mutilating surgery. It may be delivered in the
form of intracavitary brachytherapy in RMS of the vagina and uterus.
Surgery
The goal of the surgeon is to attempt a complete resection of the primary tumor with
surrounding margins which are uninvolved, but this must also be done to preserve organs and
be cosmetically acceptable.
Regional lymph nodes are often removed for pathological examination and evaluation at
the time. If a residual disease is present, it is important to re-excise the area until there is a
microscopic clearance of the edges of the excised region.
RMS of Bladder/Prostate
Partial cystectomy has resulted in similar survival rates and improved bladder function
compared with more aggressive resections. Bladder dome tumors can be completely resected,
whereas more distal bladder lesions frequently require ureteral reimplantation or bladder
augmentation.
Prostatic tumors require prostatectomy, often combined with an attempt at bladder
salvage with or without ureteral reconstruction. Continent urinary diversion may be necessary
if tumors are unresectable or have a poor response to medical therapy.
RMS of Vulva/Vagina/Uterus
The new treatment approaches rely more heavily on neoadjuvant chemotherapy to reduce
tumor size and minimize the extent of resection in an attempt to preserve organ function. The
vast majority of these tumors are classic embryonal or are of the botryoid subtype.
Vaginectomy and hysterectomy are performed only for a persistent or recurrent disease.
Primary uterine tumors require resection with preservation of the distal vagina and
ovaries if they do not respond to chemotherapy. Oophorectomy is only indicated in the setting
of direct tumor involvement.
Paratesticular RMS
Radical orchiectomy via an inguinal approach with resection of the spermatic cord to the
level of the internal ring is the standard of care. Open biopsy should be avoided because the
flow of lymphatics in this region facilitates the spread of the disease. If a trans scrotal
biopsy/resection has been performed, subsequent resection of the Hemi scrotum is required.
Prognosis
The prognosis of patients with RMS is dependent on many factors.

Favorable prognostic factors include:
 embryonal/botryoid histology
 primary tumor sites in the orbit and non para meningeal head/neck region and
genitourinary nonbladder/prostate regions,
 complete gross removal of tumor at the time of diagnosis
 tumor size less than or equal to 5 cm
 age less than 10 years at the time of diagnosis
REFERENCES
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[3] Gallup DG, Talledo OE. Benign and malignant tumors. Clin. Obstet. Gynecol.
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Moulina, G. Escourroud, P. Galinierb, P. Vaysseb WHO International Classification of
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Pelvic Tumors 319
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Michael Höllwarth, Pediatric Surgery Diagnosis and Management, Springer Berlin
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Chapter 29
RETROPERIOTNEAL TUMORS
Taieb Chouikh1,*, MD, Chaima Mrad2, MD

and Sofien Ghorbel3, MD PhD
Formely Pediatric Surgery assistant Professor, Tunis School of Medecine,
University El Manar, Tunisia;
Special Registrar, Department of Paediatric Surgery,
Hôpital Universitaire Necker-Enfants malades Hospital, Paris, France;
2
Pediatric Surgery Resident, Sousse School of Medecine,
Ibn Al Jazzar University, Sousse, Tunisia
3
Formely Pediatric Surgery Professor, Tunis School of Medecine,
University El Manar, Tunis, Tunisia
ABSTRACT
A broad spectrum of tumors arises in the retroperitoneal area in infants and children
ranging from benign to some of the most malignant tumors seen in children. Wilms’
tumor is the most common renal tumor in childhood and is the second most common
abdominal tumor presenting in infants and children after neuroblastoma.
Today the vast majority of children with these tumors can be cured by
multidisciplinary therapy. Their treatment is based on multiple randomized therapeutic
trials which have established the basis for current treatment. In this chapter, the two most
common retro peritoneal tumors are presented with a review of the current treatment
algorithms.
Keywords: Wilm’s tumor, nephroblastomatosis, neuroblastoma, Pepper’s Syndrome,

management, long term follow up
*
Corresponding author: [email protected]. Formely Pediatric Surgery assistant Professor, Tunis School of
Medecine, University El Manar, Tunisia.
WILM’S TUMOR
Wilm’s tumor is the most common etiology of renal masses in children under the age of 6
years. Wilm’s tumor is an embryological tumor arising from the renal blastema. Genetic
situations where a loss of tumor suppressor gene leads to this tumor either in the familial form
(FWT1, FWT2) or in the sporadical cases (WT1 11p13, WT2 11p15). This hypothesis is
highly supported by the presence of associated anomalies such as WAGR Syndrome
(Wilms’s tumor, aniridia, genitourinary malformation,
Mental retardation), Denys-Drash Syndrome (nephropathy, renal failure, male
pseudohermaphroditism, and Wilm’s tumor): WT1, hemihypertrophy, and Beckwith-
Wiedmann syndrome (visceromegaly, macroglossia, omphalocele, and hyperinsulinemic
hypoglycemia): WT2.
Epidemiology
Wilm’s tumor accounts for approximately 91% of all renal tumors in childhood. The
annual incidence is 7-8 per million children under the age of 15, and the prevalence is 1/8000
live births.
The mean age at diagnosis is 36 months, with most children presenting between the ages
of 12 and 48 months. It is rare at greater than 10 years and less than 6 months of age.
Tumors can be unilateral or bilateral. Bilateral cases represent 4% to 13% of all the
patients.
Pathology
The nephroblastoma is a tumor characterized by its development at one of the two renal
poles. It is characterized by the fast increase in the tumor volume exposing to a risk of rupture
which deteriorates the prognosis
Microscopic Study
Nephroblastoma is an embryonal tumor containing components seen in normal
developing kidneys. The classic nephroblastoma consists of three elements: blastemal,
stromal, and epithelial tubules. Tumors contain various proportions of each of these items.
Nephrogenic rests or naphroblastomatosis are persistent foci of embryonal renal
parenchyma also called metanephric blastema, which typically disappear after 36 weeks of
gestational age. It is considered as a precursor of Wilms tumor.
Presentation
A painless abdominal mass found by the parents during bath or by the practician during a
routine physical exam is the most common presentation.
Retroperiotneal Tumors 323
Otherwise, abdominal pain, Hematuria (10% of the cases), Hypertension, fever, anorexia
or weight loss can be present in patients with nephroblastoma.
Extension of tumor thrombus into the renal vein can obstruct the spermatic vein and
result in a varicocele, and in rare cases, tumor extension into the atrium may produce cardiac
malfunction. Much rarely an acute abdomen (tumor rupture or hemorrhage) can reveal the
tumor.
Imaging
Ultrasonography
The Ultrasonography is the initial noninvasive test; it determines the anatomic location
and extent of the mass. This exploration reveals a solid renal mass with sometimes areas of
necrosis. The tumor may be cystic or not. This test helps to define the limits of the tumor and
the contact with surrounding organs.
Ultrasonography explores the other kidney seeking for small tumor and the liver and
other structures looking for metastasis. It assesses for possible intravascular or ureteral
extension.
Computed Tomography (CT) Scan of Abdomen and Pelvis

CT confirms the ultrasonography data revealing the renal origin of the mass, helps in the
study of the extension of the tumor, regional nodes and the Inferior vena cava thrombus in CT
scan is clearly seen.
It also determines whether there are bilateral tumors. If an acute abdomen is an initial
presentation, we have to look for a rupture of the tumor or an intra tumoral bleeding.
The common sites of metastatic spread are the lungs and the liver. Therefore, in addition
to abdominal imaging, pulmonary imaging must be performed.

MRI avoids radiation exposure, but it has not been shown to be superior to CT scanning
in standard assessments. MRI is currently being evaluated as a method to help distinguish
nephrogenic rests from Wilms tumor.
Differential Diagnosis
In cases of unusual clinical presentation like children under 6 months old or aged more
than 6 years, or when the Ultrasound and CT scan features reveal a cystic tumor or tumor on
an ectopic kidney, another diagnosis must be discussed.
Xanthogranulomatous Pyelonephritis: This entity is discussed when fever and
inflammatory syndrome are present. The ultrasound allows to redress the diagnosis.
Multicystic renal dysplasia: The absence of functional renal parenchyma guide to this
diagnosis.
Renal Multilocular cyst: This benign renal tumor looks like nephroblastoma in its cystic
form. The diagnosis is made commonly on pathological examination after nephrectomy.
The Congenital mesoblastic nephroma is a benign tumor with the same radiological
features of nephroblastoma, only the age of the patients (under 6 months) allow to discuss this
entity. The management is exclusively surgical.
Other Renal Tumor: Renal cell carcinoma1 (Grawitz Tumor) may be present in pediatric
population especially in the pre-adult period. The diagnosis is made after the pathological
study. These rare cases are managed like in adult cases. Clear Cell Sarcoma (4%-5% of all
pediatric renal tumor) is suspected when bone metastasis is present.
Extra Renal Tumor: Mostly case of neuroblastoma invading the upper part of the kidney.
In these cases it’s frequent to perform a fine needle (<18G = 1.3mm) punction to redress the
diagnosis.
Extra Renal Wilm’s Tumor
Rare but often reported. These tumors can be located in the retroperitoneum, in the
Uterus, the Cervix, the Pelvis, the Thorax, and along the line of spermatic cord testes. The
histological characteristics are the same.
Assessment of the Tumor
Local extension: based on the ultrasonography and the CT scan. Staging of the Regional
nodes state is performed, the inferior vena cava and the renal vein patency are explored
looking for a thrombus.
General extension: Pulmonary metastases are the most frequent, post anterior and lateral
radiographic views area mandatory, but the chest radiograph cannot detect micrometastasis,
that’s why most of the centers performed a chest CT scan at the same moment as the
abdominal one. The liver is the second frequent location of metastases; this area is well
explored by the abdominal CT scan.
Bone and brain metastases are sought if suggestive symptoms are present, using Bone
scan and Brain Magnetic Resonance Imaging.
Management
The therapeutic strategy is guided by the age of the patient, the extension of the tumor
and the histological characteristics of the tumor. These protocols were established after
several prospective trials supervised by international scientific societies, the SIOP (Societe
Internationale d’Oncologie Pédiatrique) in Europe and the NWTS (National Wilms Tumors
Society) in the USA.
Both groups had similar aims but tried to reach them in different ways. NWTS since its
beginning advocated initial surgery whenever possible and the treatment related and adapted
to the pathological postsurgical findings.
1
Renal rhabdomyosarcoma (1.3% of all pediatric renal tumor) is suspected when cerebral metastasis is present,
with a guarded prognosis in these cases.
SIOP noticed that the intraoperative tumor rupture rate at that time was approximately
30% and tried to find a way to downstage the disease preoperatively and make surgery easier
and decrease the frequency of this intraoperative complication. First using radiotherapy, but
since it was well known that radiation shall be avoided the more, the younger is a child due to
the complication rate of this method, it was replaced by preoperative chemotherapy, followed
by classical open tumor nephrectomy with lymph nodes resection for appropriate post-
operative staging.
According to the SIOP protocol, once the diagnosis is established, children follow one of
the three ways:
4. Unilateral localized cases received 4-week pretreatment with vincristine (weekly)

and actinomycin D (biweekly)
5. Metastatic patients - 6 weeks of vincristine-actinomycin D (like above) and
doxorubicine on weeks 1 and 5
6. Bilateral tumors-vincristine-actinomycin D for no longer than 9-12 weeks in some
cases reinforced with doxorubicine.
Figure 1. The SIOP 2001 clinical Staging System for Wilm’s Tumor.
Children aged less than 6 months with localized disease were submitted to initial surgery
if only their tumors were considered resectable. Other surgical questions were related to
nephron-sparing nephrectomy in unilateral and bilateral localizations and the role of the
minimal invasive nephrectomy. Both, however not recommended, were occasionally
performed in the SIOP patients. The choice of one of this technique must be made on a case
by case discussion during multidisciplinary staffs. The complete staging (Figure 1) and the
risk-grouping (Figure 2) are performed at the time of surgery based on the pathology
examination of the specimen. Further treatment was adapted to the clinical stage (at surgery)
and histological risk group (Figures 3, 4).
Results
Improve of the therapeutic protocols during years allows to obtain a recovery rate of 90%
and to decrease the rate of relapse to 15%-18%.
Prognosis
Will depend on the age of the patient, the extension of the tumor, the histological
characteristics of the tumor and the therapeutic strategy.
Figure 2. The revised SIOP working classification of renal tumors of childhood (2001) for Wilm’s
Tumor.
Figure 3. The post-operative treatment for stage 1-3 for Wilm’s Tumor.
Figure 4. The post-operative treatment for stage 4 for Wilm’s Tumor.
NEUROBLASTOMA
Neuroblastoma is a malignancy of childhood derived from neural crest cells appearing
anywhere along the distribution of the sympathetic nervous system. It is the most common
extra-cranial solid tumor of infancy. Neuroblastomas arise in neuroblasts of the sympathetic
nervous system. The largest concentration of these cells is in the adrenal medulla and the
sympathetic ganglia. Other collections of sympathetic neuroblasts lie within the preaortic
ganglia.
The incidence of neuroblastoma in children younger than 15 years is 10.5 per 1 million
per year. It constitutes the largest percentage of solid childhood tumors (8% to 10%). There
are no geographic or racial propensities. The peak age of incidence is 0 to 4 years, with a
median age of 23 months, making neuroblastoma the most common solid tumor in young
children. More than 90% of tumors occur in patients younger than 10 years.
The tumor occurs in the abdomen in the vast majority of patients (about 70%), the
adrenal being the commonest site of origin (about 50% of the total). Tumours arising in the
mediastinum (10%) or the pelvis (6%) are much less common
Neuroblastoma is a tumor with multiple clinical manifestations related to the site of the
primary tumor, the presence of metastases, and the production of certain metabolic tumor by-
products.
Prenatal Diagnosis: The routine use of antenatal Ultrasonography has increasingly
identified the presence of adrenal tumors and other intraabdominal masses. Commonly the
adrenal mass is reported on the third-trimester exam (about 33 weeks of gestation). Fetal MRI
may be required to help distinguish neuroblastomas from other mass lesions. Imaging studies
are needed during the postnatal period to differentiate neuroblastomas from adrenal
hemorrhage, renal masses, and intra-abdominal extra lobar sequestration.
Abdominal Mass may be hard, nodular, fixed, and painful on palpation.
Generalized symptoms including weight loss, failure to thrive, abdominal pain and
distention, fever, and anemia. Hypertension is found in 25% of cases and is related to the
production of catecholamines by the tumor. Instances of hypercalcemia have been observed
in association with neuroblastoma, and hemoperitoneum caused by sudden spontaneous
rupture of the neoplasm has also been reported. Pelvic neuroblastoma may manifest with both
urinary symptoms and constipation; scrotal swelling has been reported in some of these cases.
Neurological Symptoms: Paraspinal tumors can invade neural foramina and/or nerve
plexus resulting in paresthesias and possible paralysis. Dural involvement can cause spinal
cord compression and require emergent steroid and chemotherapy treatments.
At the time of clinical presentation, about two-thirds have locally advanced or metastatic
disease. The presence of bone and joint pain, a consequence of metastasis, may bring the
condition to attention.
 Marrow involvement can lead to anemia, leukopenia, and thrombocytosis with

resultant weakness, infection, and abnormal bleeding or bruising.
 Multiple subcutaneous skin nodules maye be reported.
 Horner’s syndrome: Neoplasms arising in the upper mediastinum or neck may
involve the stellate ganglion and cause Horner’s syndrome, characterized by ptosis,
miosis, enophthalmos, anhydrosis, and heterochromia of the iris on the affected side.
 Acute cerebellar ataxia, characterized by opsomyoclonus and nystagmus (“dancing
eye syndrome”), has been observed. 2/3 of these cases have occurred in infants with
mediastinal neuroblastoma. The involuntary muscular contractions and random eye
movements are unrelated to metastases. The cause of this unusual presentation of
neuroblastoma is unknown. An autoimmune phenomenon related to an antigen
antibody complex has been suggested. Of interest is the fact that these significant
neurologic symptoms may persist even after tumor resection.
 Metastases to the bony orbit may produce proptosis or bilateral orbital ecchymosis,
often referred to as “panda eyes” or “raccoon eyes”. The latter finding in a child
without a history of trauma should always raise the index of suspicion for the
presence of malignancy.
 Pepper’s syndrome is defined a metastatic liver invasion by a neuroblatsoma. The
primary tumor is mainly of adrenal orgin.
 Hutchison’s Syndrome appears in the orbit of infants and young children, appearing
first on the side corresponding with the affected adrenal. The orbital involvement,
however, may be bilateral. It usually occurs in children between 2 to 3 years and is
seldom seen above. The first localizing sign of orbital involvement is ecchymosis of
the lids and proptosis. The proptosis may be very rapid and extreme, and the whole
of the orbital cavity may be filled up with the tumor mass.
Imaging Techniques
Chest radiographs may show a posterior mediastinal tumor or paraspinal widening above
the diaphragm from an extension of an abdominal tumor. It is also helpful in seeking
metastatic disease.
Computed tomography (CT) allow to identify the primary lesion; can demonstrate tumor
calcification in approximately 80% of cases. CT is performed with intravenous contrast
material so that an intravenous urogram can be acquired during the same.
Magnetic resonance imaging (MRI) is extremely useful in detecting intraspinal tumor
extension and, in some instances, the tumor’s relationship to major vascular structures.
The bone-seeking isotopes (Méta-Iodo-Benzyl-Guanidine scintigraphy) are picked up by
bone metastasis and by the punctuate calcifications in the primary tumor Isotopic bone scans
show a close correlation with the radiographic skeletal survey and are occasionally more
sensitive. False positive bone scans can occur in cases of recent bone trauma or inflammation.
Demonstration of the bone-seeking isotope in a retroperitoneal or posterior mediastinal mass
suggests that the lesion is a neuroblastoma. Guanidine is a molecule close to the Noradrenalin
which accumulates in the organs which secrete catecholamines (adrenal and sympathetic
ganglia).
Staging requires CT or MRI scans of the primary lesion and suspected metastatic sites. A
technetium or MIGB bone scan should be obtained to identify possible cortical bone
metastases.
Laboratory Tests
Because Neuroblastoma is a tumor derived from neural crest cells, it may secrete
hormonal products. More than 90% of children with neuroblastoma have tumors that produce
high levels of catecholamines or their byproducts. Quantification of catecholamine by-
product secretion is best done by 24-hour urine collection. Adrenaline, noradrenaline,
dopamine, metanephrine, HVA, VMA, and vanillylglycolic acid levels are determined.
Children with immature, more undifferentiated tumors tend to excrete higher levels of certain
byproducts (e.g., HVA). Patients with more mature tumors excrete more VMA. In rare
instances, however, the tumor does not secrete excessive catecholamines.
Patients with advanced malignancy have elevated urine concentrations of cystathionine
and homoserine; increased serum levels of neuron-specific enolase, ferritin, and lactic
dehydrogenase; and, in 25% of cases, are positive for carcinoembryonic antigen.Hann and
colleagues reported that 63% of patients with stage IV disease had high serum ferritin levels,
which was predictive of a poor prognosis.
Some studies showed that neuroblastic tumors produce increased serum levels of neuron-
specific enolase. Zeltzer and colleagues documented that neuron-specific enolase levels are
elevated in 96% of patients with metastatic disease and that high serum levels are associated
with a poor prognosis, particularly in infants. Elevated serum lactic dehydrogenase levels are
also associated with a poor prognosis in localized neuroblastoma. None of these serum levels
are independent prognostic factors, nor are they currently used to determine treatment.
Although histologic examination of tissue is the key to the conclusive diagnosis of
neuroblastoma, in advanced disease, rosettes of tumor cells in bone marrow aspirate and
increased urinary excretion of VMA or other catecholamine byproducts are often considered
indicative of the diagnosis. Immunologic analysis of bone marrow aspirate may be more
sensitive than conventional analysis in detecting tumor cells. Serial immunohistologic
analysis of peripheral blood samples has also identified circulating neuroblasts, documenting
tumor dissemination. Exams and tests might strongly suggest the diagnosis, but a biopsy is
often done to be sure.
Biopsies
There are 2 main types of biopsies:
 Incisional (open or surgical) biopsy: This type of biopsy is done by removing a piece
of the tumor. For tumors deep in the body this may be done laparoscopically.
 Needle (closed) biopsy: commonly guided by CT scans or ultrasound.
The histopathologic features that define the malignant potential of adrenal tumors in
children are unique. Homer-Wright pseudorosettes that consist of eosinophilic neutrophils
surrounded by neuroblasts occur in only half of the cases.The presence of associated neuropil
pigmented neuritic processes is pathognomonic for neuroblastoma. The other type of cell
highly characteristic of neuroblastoma is the Schwann cell, which may be recruited into the
tumor and constitutes the so called schwannian stroma, which makes up the mesenchymal
component of the tumor.
Bone Marrow Aspiration and Biopsy

If blood or urine levels of catecholamines are increased, then finding cancer cells in a
bone marrow sample is enough to diagnose neuroblastoma. If neuroblastoma has already been
diagnosed by a biopsy done elsewhere in the body, bone marrow tests are done to help
determine the extent of the disease. Immunologic analysis of bone marrow aspirate may be
more sensitive than conventional analysis in detecting tumor cells.
Molecular Pathology
Molecular understanding of neuroblastoma has identified several features of the disease
that may aid in all aspects of its management, including diagnosis, natural history, prognostic
stratification, and selection of treatment.
An accepted genetic marker for neuroblastoma has been amplification of the MYCN (or
N-myc) proto-oncogene. The association between MYCN amplification and high-grade,
advanced-stage disease at presentation; rapid progression; and an overall poor prognosis has
become well established.
Deletions of chromosome 1 and gains in chromosome 17 have been shown to carry
strong prognostic information in advanced neuroblastoma.
Most significantly, in univariate and multivariate analyses, 17q gain was independently
predictive of a poor outcome (30.6% 5-year survival with 17q gain versus 86% 5-year
survival without 17q gain.
Feature Type 1 Type 2 Type 3

MYCN amplification None None Present
DNA ploidy Hyperdiploid Near-diploid Near-tetraploid
Loss of heterozygosity Rare 25-50% Present
Neurotrophin High Low or absent (except Low or absent (except
gene expression tyrosine kinase receptor tyrosine kinase receptor B.-
B.high) high)
Age 1 yr >1 yr >1 y
Stage I, II, IVS III, IV III, IV
3-yr survival 95% 25-50% <5%
Adapted from Brodeur G. Clinical and biological aspects of neuroblastoma
In: Vogelstein B, Kinzler KW, eds. The Genetic Basis of Human Cancer
New York: McGraw-Hill; 1998
Neuroblastoma may be stratified into specific prognostic subgroups based on the genetic
interplay represented by MYCN expression, loss of heterozygosity, DNA ploidy, and
neurotrophin-receptor expression. Combining these factors with age and stage, three genetic
neuroblastoma profiles can be determined with differing survival rates.
Staging
An international working group published the outcome of its deliberations in 1988. This
staging system is known as the International Neuroblastoma Staging System (INSS), and the
response criteria are referred to as the International Neuroblastoma Response Criteria (INRC).
This staging system has replaced previous systems by Evans and coworkers, originally
established by the Pediatric Oncology Group (POG) (Figure 5 outlines the three staging
systems for comparison.
Stage 4S Disease
Infants younger than 1 year of age oft en present with a pattern of metastatic disease
(stage 4S) that is unique to this age group. Stage 4S infants may have a small or undetectable
primary neuroblastoma with metastases to the liver, skin, and bone marrow. The adrenal is
the most common primary site. Skin lesions typically present as multiple bluish subcutaneous
nodules.
Stage 4S tumors exhibit particularly interesting biologic behavior. Most (75%) of these
tumors regress spontaneously during infancy. Frequently, however, newborns with massive
hepatic involvement are subject to a broad spectrum of significant respiratory and
cardiovascular problems that may be fatal.
Prognosis Factors
Newer treatment protocols individualize treatment using risk factors as predictors of
outcome to maximize survival, minimize long-term morbidity, and improve the quality of
life.
Figure 5. The three staging systems for neuroblastoma.
Current rules now categorize patients as low, intermediate, and high risk based on their
prognostic factors. Good outcomes are associated with stage I, II, and IV-S patients who are
younger than 18 months and have hyperdiploid DNA flow cytometry, favorable histology,
less than 1 copy of MYCN, high Trk-A expression, and absence of chromosome 1p
abnormalities.
In contrast, a poor prognosis is predicted in children older than 18 months with advanced
tumors (stages III and IV), more than 10 copies of MYCN, low Trk-A expression, diploid
DNA ploidy, allelic loss of 1p36, and unfavorable histology.
The site of the primary tumor was also considered predictive of survival by some
investigators. Patients with tumors in cervical, pelvic, and mediastinal locations had an
improved outlook compared with children with retroperitoneal (paraspinal or adrenal) tumors.
Some early reports concerning neuroblastoma suggested that the most mature and
differentiated the tumor, the better the prognosis. Others noted that a more mature histology
might be associated with the same dismal outcome as in patients with undifferentiated
neuroblasts. In patients with metastatic disease, the presence of more mature elements seemed
to improve the outlook and was associated with increased survival.
Shimada and colleagues subsequently classified the histopathology of neuroblastoma into
favorable and unfavorable types, characterized by a stroma-rich appearance for the former
and a stroma-poor appearance for the latter. The Shimada classification was also age related.
The impact of Shimada histology class on prognosis proved to be important, especially when
associated with other prognostic biologic variables, particularly amplification of the MYCN
oncogene and allelic loss on the short arm of chromosome 1p (1p36). The current INPC
(which embraced and modified the Shimada classification) further divided cases into subsets
of favorable and unfavorable histologic types and is a highly significant independent predictor
of prognosis. MYCN amplification is seen in approximately 30% of neuroblastoma cases and
has an important role in modulating the malignant phenotype in neuroblastoma.
The prognostic value of MYCN status is independent of tumor stage and patient age.
MYCN amplification is associated with a poor response to treatment, rapidly progressive
disease, and a horrible outcome.
A new pretreatment classification system based on 13 prognostic factors has recently
been developed by the INRG, aiming to create the international consensus for risk
stratification. These factors include age, INRG stage, histology, DNA index, MYCN
amplification status, and the presence of 11q abnormality; they classify patients into 1 of 16
groups. Each group is categorized as very low, low, intermediate, and high risk, based on
event-free survival rates. More than 85%, more than 75% of less than or equal to 85%, greater
than or equal to 50% to less than or equal to 75%, or less than 50%, respectively.
For low-risk patients, surgical excision of the tumor is usually curative and avoids the
risks associated with chemotherapy. Intermediate-risk patients are typically treated with
surgery and chemotherapy. Studies aimed at minimizing treatment regimens for this group of
patients are ongoing.
The poor prognosis in high-risk patients justifies a much more intense treatment regimen,
including combination chemotherapy followed by complete surgical excision (if possible),
radiotherapy to achieve local control, myeloablative treatments with bone marrow rescue, and
biologic therapy.
Management
Pediatric oncologists treat most children with neuroblastoma according to agreed national
or international protocols. In general, low stage tumors with favorable biological profiles are
managed by excision alone. Aggressive chemotherapy is utilized with low stage tumors with
a poor biological profile or for those (the majority) who have locally advanced or metastatic
disease.
Stages 1 and 2
Neonates with stage 1 or 2 diseases are considered to be at low risk regardless of biologic
tumor features. Surgery alone is sufficient to control disease, and survival is nearly 100%. In
patients with stage 2 disease without N-myc amplification, residual microscopic disease
usually regresses without additional intervention.
Stages 3 and 4
The incidence of stage 3 and 4 tumors in neonates and infants younger than 1 year is
lower than that in older children.
Children with stage 3 disease undergo several cycles of chemotherapy followed by
delayed primary resection. Those without N-myc amplification have an excellent prognosis
and enjoy a 90% event-free survival.
Infants with stage 4 disease without N-myc amplification do not fare as well. Although
studies show variable survival rates, these rates exceed 50%.
Infants with stage 3 or 4 diseases and N-myc amplification are considered to be a
particularly high-risk group, requiring more intensive high-dose chemotherapy and radiation
therapy and possible bone marrow rescue. Despite this approach, those with more than ten
copies of the N-myc oncogene have a rapidly progressive disease and frequently die.
Stage 4S
The survival rate of infants with stage 4S disease is greater than 80%, often without
specific treatment. Despite the high level of spontaneous tumor regression, progressive
hepatomegaly may lead to respiratory embarrassment or inferior vena cava compression.
In these patients, low-dose radiation and low-dose chemotherapy are used to accelerate
tumor regression. As a measure of last resort, some surgeons have released the intra-
abdominal compartment syndrome by creating a ventral hernia, using a large silastic patch to
cover the surgical defect. This approach is not practical and therefore is no longer advocated.
Most deaths in stage 4S occur in infants younger than 2 months of age with severe symptoms
due to hepatomegaly. As compared to older children, this younger group exhibits less
tolerance to therapy.
Cystic Neuroblastoma
Most prenatally diagnosed cystic neuroblastomas are localized and exhibit favorable
biologic features. These tumors are usually associated with an almost universally favorable
outcome. As with low stage solid tumors, cystic tumors are typically managed with resection.
Because of uniformly positive outcomes, as well as evidence that some cystic lesions
regress spontaneously, the Children’s Oncology Group (COG) has initiated a prospective
study to investigate the effectiveness of observation alone as a management strategy. In the
current protocol, serial sonograms are used to monitor the mass during the first few months of
life to determine if tumor regression is ongoing. Surgical resection is reserved only for cystic
tumors that fail to regress or increase in size. To date, results of this study have not been
reported.
REFERENCES
Andrew M. Davidoff, Neuroblastoma, In Ashcraft’s pediatric surgery/[edited by] George
Whitfield Holcomb III, J. Patrick Murphy; associate editor, Daniel J. Ostlie. — 5th ed.by
Sanders Elsevier 2010, 872-894.
Edward P. Tagge, Patrick B. Thomas, and H. Biemann Othersen, Jr., Wilms’ Tumor, In
Pediatric Surgery Sixth edition. Edited by Jay L Grosfeld, ed by Mosby Elsevier 2006
445-486.
Jay L. Grosfeld, Neuroblastoma. In Pediatric Surgery Sixth edition. Edited by Jay L Grosfeld,
ed by Mosby Elsevier 2006 487-495.
Michael P. La Quaglia, Daniel N. Rutigliano, Neuroblastoma and Other Adrenal Tumors. In
The Surgery of Childhood Tumors, Second Corrected and Enlarged Edition Edited by
Robert Carachi, Jay L. Grosfeld, Amir F. Azmy, 2008 Springer 201-225.
Patrick G Duffy and Neil J Sebire, Genitourinary malignancies, In Essentials of Paediatric
Urology. Second Edition Edited by David FM Thomas 2008 Informa UK Ltd 395-305.
Robert C. Shamberger, Renal Tumors in Ashcraft’s pediatric surgery/[edited by] George
Whitfield Holcomb III, J. Patrick Murphy; associate editor, Daniel J. Ostlie. — 5th ed.by
Sanders Elsevier 2010, 853-871.
Robert C. Shamberger, Renal Tumors. In The Surgery of Childhood Tumors, Second
Corrected and Enlarged Edition. Edited by Robert Carachi, Jay L. Grosfeld, Amir F.
Azmy, 2008 Springer 171 -199.
Chapter 30
TESTICULAR TUMORS
Chaima Mrad1, MD, Taieb Chouikh2, MD,

Frederic Auber3, MD, PhD and Sofiene Ghorbel4, MD, PhD
1
Pediatric Surgery Resident, Sousse School of Medecine
Ibn Al Jazzar University Sousse Tunisia
2
Special Registrar, Formerly university hospital assistant at Tunis School of Medecine
University El Manar Tunis Tunisia; Department of Paediatric Surgery, Necker-Enfants
malades Hospital 149 rue de Sevres, 75015 Paris, France; Hopital Robert Ballanger
Aulnay sous bois France
3
Professor of Pediatric Surgery, Besançon School Of Medecine Bourgogne Franche
Comté Universtity Pediatric Surgeon
Department of Pediatric surgery, Centre Hospitalier Universitaire Jean Minjoz Bd A.
Flemming Besançon 25000 France
4
Pediatric Surgery Professor, Tunis School of Medecine
University El Manar Tunis Tunisia
ABSTRACT
Testicular tumors are rare in children. Pediatric testis tumors are pathologically and
clinically different from the adult’s tumors, so their management needs to be different.
Keywords: scrotal mass, acute pain, tumor markers, surgery
EPIDEMIOLOGY
The incidence of pediatric testis tumors is 0.5–2.0 per 100,000 children, accounting for
1–2% of all pediatric tumors [1, 2]. There is a bimodal distribution, with a small distinct peak
in the first three years of life, followed by a large peak in adolescents (15 to 18 years) [3].
Testis tumors are classified according to the putative cell of origin Tumors arising from
germ cells include yolk sac tumor, teratoma, and seminoma. Stromal tumors include juvenile
338 Chaima Mrad, Taieb Chouikh, Frederic Auber et al.
granulosa cell tumor, Leydig cell tumor, Sertoli cell tumor, and mixed or undifferentiated
stromal tumors Gonadoblastomas contain germ cells and stromal elements.
The frequency and behavior of the various tumor types in are summarized in Table 1: [4]
Table 1. Frequency and malignant potential of testicular tumors in children
The most common testicular tumor in different series is teratoma, and the second is yolk
sac tumor. Table 2 shows a comparison of the pathological types of testis tumors in various
studies [5, 6, 7, 8].
Table 2. Different pathological types in literature
Risk Factors
Four factors have a high risk of a testicular tumor with sufficient evidence: undescended
testis (cryptorchidism: relative risk: 4.8), contralateral testicular germ cell tumor (GCT),
familial testicular germ cell tumor, and gonadal dysgenesis [9].
The most typical presentation of a testicular tumor is a scrotal mass (50% -85%).
Testicular Tumors 339
A history of trauma and persistent swelling is present in 3% of the cases, while hydrocele
is reported in 10%.
An incidental discovery during surgical repair of a congenital or acquired disorder (53%)
or a testicular torsion (21%) may also bring attention to a testicular mass [10].
Diagnosis
The scrotal mass is painless, hard and cannot be separated from the testis. (Figure 1)
Physical examination should also differentiate between pathologies arising from the cord
(varicocele, spermatocele, epididymitis) and those resulting from the testicle (trauma,
orchitis).
Figure 1. Scrotal left mass [11].
Careful evaluation of the child’s pubertal status is necessary. Signs of precocious puberty
or Gynecomastia may be present in stromal cell tumors.
Metastatic disease is uncommon, and the primary sites, which are the retroperitoneum
and lungs rarely result in symptoms or physical findings. Metastases to the bone or central
nervous system are rare.
Tumor Markers
Tumor markers have an important role in the evaluation and follow-up of children with
testis tumors.
Human chorionic gonadotropin (HCG) and a-fetoprotein (AFP) are the most important
markers. AFP is secreted by yolk sac tumors in up to 90% of cases, and b-HCG is secreted by
choriocarcinoma [10].
AFP is very accurate for yolk sac tumor, though their levels are highly variable in infants
(Figure 2). Typical levels range from approximately 50,000 ng/ml in newborns to 10,000
ng/ml by 2 weeks of age, 300 ng/ml by 2 months, and 12 ng/ml by 6 months of age [4].
Figure 2. AFP serum level in term babies [12].
In general, a child over 1 year of age with a testicular mass and an elevated AFP can be
assumed to have a yolk sac tumor.
Patients presenting with precocious puberty should have an assessment of a urinary 17-
ketosteroid, serum luteinizing hormone (LH), follicle-stimulating hormone (FSH), and
testosterone.
In testicular tumors, there is a low LH and FSH level and high testosterone.
Imaging Investigations
Ultrasound
Ultrasound is the imaging modality of choice in boys with scrotal mass.
Scrotal ultrasound is highly sensitive for distinguishing intratesticular from extra
testicular tumors, but it has a poor specificity to distinguish between benign and malignant
lesions. Some ultrasonographic aspects are though suggestive of particular lesions.
Hypoechoic cystic areas with adjacent hyperechoic areas within a well-circumscribed
lesion, surrounded by normal testicular parenchyma, are characteristic of teratoma (Figure 3)
[13].
Epidermoid cysts may appear as a well circumscribed hypoechoic mass with a

hyperechogenic rim and center. The deposition of keratinized material within the cyst may
result in an “onion-skin” or targetoid appearance. (Figure4) [14, 15].
Yolk sac tumors tend to appear as solid masses with hypervascularity [16, 17].
Figure 3. Ultrasound of testicular teratoma [11].
Figure 4. Ultrasound of epidermoid cyst [11].
Other Investigations
In cases where malignancy is suspected, computed tomography (CT) of the chest,
abdomen, and pelvis should be obtained to exclude metastatic disease to the most common
sites, which are the lungs and the retroperitoneum.
Surgical Management
The standard initial treatment for a malignant testicular tumor in an adolescent is an
inguinal orchiectomy with early control of the vessels. In prepubertal patients, this approach
should be applied only to patients greater than 6 months of age with an elevated AFP.
In all other prepubertal patients, a benign tumor is likely to be present, and the initial
surgical management should be a testis-sparing approach.
The management of a testicular mass in a prepubertal boy is summarized in the following
algorithm:
Treatment algorithm for prepubertal patients [18]
Testis-sparing surgery is carried out through an inguinal incision.

The cord is mobilized after opening the external oblique aponeurosis to the level of the
internal ring. The cremasteric fibers are dissected from the cord structures. The testis is then
delivered through the inguinal incision. The tunica vaginalis is opened directly over the mass,
and an excisional biopsy of the mass is performed without violating the tumor capsule (Figure
5, 6).
Frozen section evaluation is obtained. The tunica vaginalis is closed with fine absorbable
sutures, and the testis is replaced in the scrotum.
A radical inguinal orchiectomy is performed through a standard inguinal incision.
The cremasteric fibers are dissected from the cord, and the cord is then clamped and
divided at the level of the internal ring, after which the stump is suture ligated.
The testis is then mobilized from the scrotum, and the gubernaculum is divided.
If the tumor is too large to deliver through the scrotal canal, the incision may be carried
onto the superior aspect of the scrotum.
Figure 5. Testis sparing surgery [11].
Figure 6. Conservative surgery in dermoid cyst [11].

Chemotherapy
The standard chemotherapy for children with malignant germ cell tumor (MGCT) of the
testes includes standard-dose cisplatin, etoposide, and bleomycin (PEB) for 4 to 6 courses.
The current protocol under investigation examines stages II to IV with three courses of
chemotherapy.
The following table summarizes the indications of treatment and survival in children with
testicular tumors (table 3) [19].
Table 3. Indications of treatment and survival
The intensity of follow-up depends on the malignant potential of the primary tumor.
CONCLUSION
Testicular tumors are rare in children. The majority of tumors in a prepubertal patient are
benign.
Testis sparing surgery should be performed in the cases of benign tumors.
REFERENCES
[1] Brosman, S. A. (1979). Testicular tumors in prepubertal children. Urology, 13(6), 581-
588.
[2] Lee, S. D. (2004). Epidemiological and clinical behavior of prepubertal testicular
tumors in Korea. The Journal of urology, 172(2), 674-678.
[3] Schneider, D. T., Calaminus, G., Koch, S., Teske, C., Schmidt, P., Haas, R. J., ... and
Göbel, U. (2004). Epidemiologic analysis of 1,442 children and adolescents registered
in the German germ cell tumor protocols. Pediatric blood and cancer, 42(2), 169-175.
[4] Ross, J. H. (2009). Testis tumors. In Pediatric Surgery (pp. 755-762). Springer Berlin
Heidelberg.
[5] Pohl, H. G., Shukla, A. R., Metcalf, P. D., Cilento, B. G., Retik, A. B., Bagli, D. J., ...
and Rushton, H. G. (2004). Prepubertal testis tumors: actual prevalence rate of
histological types. The Journal of urology, 172(6), 2370-2372.
[6] Baik, K., Kang, M., Park, K. and Choi, H. (2013). Prepubertal testicular tumors in
Korea: a single surgeon’s experience of more than 20 years. Korean journal of urology,
54(6), 399-403.
[7] Hisamatsu, E., Takagi, S., Nakagawa, Y., Sugita, Y., Yoshino, K., Ueoka, K. and
Tanikaze, S. (2010). Prepubertal testicular tumors: A 20‐year experience with 40 cases.
International journal of urology, 17(11), 956-959.
[8] Akiyama, S., Ito, K., Kim, W. J., Tanaka, Y. and Yamazaki, Y. (2016). Prepubertal
testicular tumors: a single-center experience of 44years. Journal of Pediatric Surgery.
[9] Ladd, A. P., Rescorla, F. J. and Grosfeld, J. L. (Eds.). (2013). Handbook of Pediatric
Surgical Patient Care (Vol. 8). World Scientific.
[10] Coran, A. G., Caldamone, A., Adzick, N. S., Krummel, T. M., Laberge, J. M. and
Shamberger, R. (2012). Pediatric surgery (Vol. 2). Elsevier Health Sciences.
[11] Auber, F., Augry, G. (2008) tumeurs du testicule chez l’enfant, cours d’enseignement
des internes, Université Pierre et Marie Curie, Paris, France.
[12] Blohm, M. E. G., Vesterling-Hörner, D., Calaminus, G. and Göbel, U. (1998). Alpha1-
fetoprotein (AFP) reference values in infants up to 2 years of age.Pediatric hematology
and oncology, 15(2), 135-142.
[13] Rushton, H. G., Belman, A. B., Sesterhenn, I., Patterson, K. and Mostofi, F. K. (1990).
Testicular sparing surgery for prepubertal teratoma of the testis: a clinical and
pathological study. The Journal of urology, 144(3), 726-730.
[14] Ross, J. H., Kay, R. and Elder, J. (1993). Testis sparing surgery for pediatric
epidermoid cysts of the testis. The Journal of urology, 149(2), 353-356.
[15] Lev, R., Mor, Y., Leibovitch, I., Golomb, J., Perelman, M., Heyman, Z. and Ramon, J.
(2002). Epidermoid cyst of the testis in an adolescent: Case report and review of the
evolution of the surgical management. Journal of pediatric surgery, 37(1), 121-123.
[16] Turial, A. P. S. (2016). Groin and Testicle. In Diagnostic and Interventional
Ultrasound in Pediatrics and Pediatric Surgery (pp. 183-195). Springer International
Publishing.
[17] Ross, J. H. (2009). Prepubertal testicular tumors. Urology, 74(1), 94-99.
[18] Metcalfe, P. D., Farivar-Mohseni, H., Farhat, W., McLORIE, G. O. R. D. O. N.,
Khoury, A. and BÄGLI, D. J. (2003). Pediatric testicular tumors: contemporary
incidence and efficacy of testicular preserving surgery. The Journal of urology, 170(6),
2412-2416.
[19] Cushing, B., Giller, R., Cullen, J. W., Marina, N. M., Lauer, S. J., Olson, T. A., ... and
Vinocur, C. D. (2004). Randomized comparison of combination chemotherapy with
etoposide, bleomycin, and either high-dose or standard-dose cisplatin in children and
adolescents with high-risk malignant germ cell tumors: a pediatric intergroup study—
Pediatric Oncology Group 9049 and Children’s Cancer Group 8882. Journal of Clinical
Oncology, 22(13), 2691-2700.
PART FIVE
TRAUMA
Chapter 31
PEDIATRIC ABDOMINAL AND THORACIC TRAUMA
Christine M. Leeper1, MD, Isam W. Nasr2, MD

and Stefan Scholz3,, MD, FACS, FAAP
1
General Surgery Resident, Department of Surgery, University of Pittsburgh School of
Medicine, Research Fellow, Division of Pediatric General and Thoracic Surgery,
Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA US
2
Associate Director, Pediatric Trauma Program, Johns Hopkins Children’s Center,
Assistant Professor of Surgery, Johns Hopkins University, Pediatric Surgery,
Baltimore, MD, US
3
Assistant Professor of Surgery, University of Pittsburgh School of Medicine, Director of
Minimally Invasive Surgery, Division of Pediatric General and Thoracic Surgery,
Children’s Hospital of Pittsburgh of UPMC, Pittsburgh, PA US
ABSTRACT
Pediatric trauma kills 875,000 children and injures an additional 10-30 million
children each year, resulting in a tremendous life years lost and cost to society. The care
of the pediatric trauma patient is unique given the myriad anatomic and physiologic
differences between children and adults. However, the basic principles of trauma care are
familiar with the goals of restoring and maintaining oxygen delivery, diagnosing and
treating life-threatening injuries in a timely fashion and minimizing secondary injury.
This process involves trauma team preparation, a primary survey, a secondary survey,
and the use of adjunct procedures and resources. Special populations include those with
solid organ injury, burns and victims of child abuse.
Keywords: pediatric, children, pediatric trauma, life threatening condition, primary survey,
secondary survey, solid organ injury, hollow viscus injury, thoracic trauma, child abuse

Corresponding Author: Stefan Scholz, MD; [email protected].
350 Christine M. Leeper, Isam W. Nasr and Stefan Scholz
EPIDEMIOLOGY
An estimated 875,000 children die annually on a global scale, in addition to 10-30 million
nonfatal injuries that affect the lives of children [1]. Childhood injuries are increasing on a
worldwide level, and represent a source of tremendous morbidity and cost to patients,
families and society [2]. More than 90% of pediatric trauma is attributed to blunt force
trauma, whereby the most frequent mechanism of injury in the children is falls; however the
most common cause of death is Motor Vehicle Accidents (MVA). The remaining 10% of
pediatric traumas are attributed to penetrating trauma, of which firearm injuries are most
lethal. Penetrating injuries are associated with a threefold higher mortality rate as compared
to blunt trauma, with up to 70% of death occurs prior to hospital arrival [3].
ANATOMY AND PHYSIOLOGY OF THE PEDIATRIC PATIENT

Clinicians often extrapolate best practice from the adult trauma management guidelines,
however this can be problematic as a still-developing child’s anatomy and physiology can
vary dramatically from that of an adult. These differences are important to identify in the
setting of an injured child. Regarding head and brain development, children have a greater
head-to-body ratio, incomplete brain myelination, and thinner cranial bones which can result
in increased head injury severity from a comparable blow. The smaller shape and size of the
pediatric patient’s body predisposes them to multiple injuries and increased severity of
injuries, as the energy from traumatic incident will generate a much larger force compared to
the adult patient. Children have decreased musculature and subcutaneous tissue as compared
to adults. As a result, the liver and spleen are located more anteriorly in the abdomen and the
kidney is more mobile, which places these organs at greater risk of injury from abdominal
trauma [4].
Regarding orthopedic trauma and development, epiphyseal growth plates are not yet
closed in children, resulting in Salter-type fractures with limb-length abnormalities [5]. The
skeleton of the pediatric patient is incompletely ossified and very pliable, which places
patients at risk of internal organ damage without apparent skeletal fractures. For example,
children experience more pulmonary contusions in comparison to rib fractures. Therefore,
when a rib fracture is seen one should assume significant force of injury and the level of
suspicion for intra-thoracic and intra-abdominal organ injuries should be higher; further
investigation may be warranted depending on clinical presentation. Similarly, the vertebral
column has greater elasticity, which predisposes patients to spinal cord injury in the absence
of fracture or radiographic evidence of spine injury.
Unlike adults, children are usually healthy at the time of trauma, and are rarely on
medications that affect hemostasis or hemodynamics. This makes them much better equipped
physiologically to withstand insults such as hemorrhage and are able to compensate much
better. The pediatric patient can lose up to 45% of their circulating blood volume before
becoming hypotensive [6]. They usually exhibit tachycardia first, and once hypotension sets
in are less able to recover and compensate for the hemodynamic changes. Therefore, one
should have a high index of suspicion for hypovolemic shock when a child’s heart rate is
elevated, particularly in the presence of other supporting symptoms such as delayed capillary
Pediatric Abdominal and Thoracic Trauma 351
refill. Normal vital signs vary with the age group, and therefore a good basic familiarity with
what is the normal range for each age group is essential using age-adjusted criteria (Table 1)
[3, 6-8].
Table 1. Age-adjusted vital signs for pediatric patients [3, 6-8]
Age group Respiratory rate Heart rate Systolic blood Urinary output
(breaths/min) (beats/min) pressure (mm (mL/kg/h)
Hg)
Infant: 0–12 mos <60 <160 >60 2.0
Toddler: 1–2 y <40 <150 >70 1.5
Preschool: 3–5 y <35 <140 >76 1.0
School age: 6–9 y <30 <140 >80 1.0
Pre-Adolescent/ <30 <100 >90 0.5

Adolescent: 10-18 y
PRIMARY SURVEY
Prior to patient arrival, the trauma team leader must clearly define the roles and
responsibilities of each person on the care team. All necessary equipment should be
immediately available and in good working order. Personnel should don personal protective
equipment utilizing standard precautions that include gown, gloves, and eye protection [9].
Family presence during care of the injured child has been shown to improve the
psychological well-being of both parent and child. It does not typically increase medico-legal
issues or interfere with the assessment and care of the patient, and may facilitate the
evaluation by providing support to the child in a stressful situation [10-14].
Initial management of the injured child should follow the Advanced Trauma Life Support
(ATLS) algorithm. The goals are to restore and maintain oxygen delivery, followed by
diagnosing the most life-threatening injuries and treating them. The initial primary survey and
any indicated initial resuscitation interventions should occur simultaneously. The components
of the primary survey can be remembered using ABCDE:
Airway
The first goal is to secure a patent airway to allow for appropriate tissue oxygenation. A
child that is speaking or crying vigorously will likely have a patent airway. Some signs of
respiratory compromise in children includes chest wall retractions, nasal flaring, stridor or
hoarse voice. Immediate actions to address airway obstruction (from patient’s tongue, blood,
mucous or other debris) may include jaw thrust maneuver while maintaining cervical spine
precautions, suctioning, and provision of supplemental oxygen. An oral airway should only
be placed in an unconscious child, otherwise the gag reflex will induce vomiting.
Definitive airway management most commonly involves endotracheal intubation using
rapid sequence induction. Endotracheal intubation in injured children is indicated in the
following situations:
1. Inability to protect the airway (Glasgow Coma Scale < 8 (see Table 3), unconscious,
combative, severe face/head/neck trauma)
2. Inability to ventilate (flail chest)
3. Inability to oxygenate (smoke inhalation)
4. Decompensated shock resistant to fluid resuscitation
5. Anticipated surgical intervention or need for radiologic investigation outside of the
ED in an unstable patient
The pediatric patient should be adequately pre-oxygenated using bag mask ventilation
prior to intubation. Maintain the spine in a neutral position by placing a layer of padding
under the patient’s body. Uncuffed endotracheal tubes are preferred in the pediatric trauma
patient to prevent airway trauma. An easy way to determine the size of the endotracheal tube
in pediatric patients is by using the following formula: size of ETT = (age/4) + 4 or by using
the diameter of the distal phalanx of the child’s small finger as a reference. Confirmation of
tube placement can be accomplished with capnography, auscultation of breath sounds and
chest radiograph. As compared to adults, the trachea in a pediatric patient is shorter, leading
to increased frequency of right mainstem intubation. The depth of the endotracheal tube (cm)
may be estimated at three times the tube size (e.g., a size 4 tube should be 12cm from the
gums). The shortened trachea also contributes to accidental extubation; the tube should be
well-secured prior to movement of the patient, and proper placement verified after any tube or
patient repositioning.
Breathing
Assessment of breathing includes respiratory rate, chest movement, and auscultation of

breath sounds. Hypopnea, tachypnea, and paradoxical breathing, or discordant movement of
the chest and abdomen, are signs of potential respiratory compromise for which endotracheal
intubation should be considered. Chest radiograph is a useful adjunct to identify chest
pathology. Tension pneumothorax, however, should be diagnosed with physical exam only -
signs include hypotension, tracheal deviation and jugular venous distention. As soon as a
tension pneumothorax is suspected, needle decompression should be performed and promptly
followed by a tube thoracostomy. Needle decompression can be performed using a 14 to 18
gauge catheter in the fourth or fifth interspace at the anterior axillary line. Hemothorax,
pneumothorax or a hemopneumothorax should all be managed with a tube thoracostomy that
is large enough to drain a hemothorax. The chest tube insertion site is similar to the location
in adults: the fifth intercostal space, anterior to the mid-axillary line. For an open
pneumothorax or sucking chest wound, a three-sided occlusive dressing should be applied
with placement of tube thoracostomy through a separate site. Transfer to operating room for
surgical intervention is indicated if initial chest tube drainage > 15 mL/kg or subsequent
output > 2 mL/kg/hr.
Circulation
Venous access should be obtained expeditiously. Two large bore peripheral IVs are the
preferred access method, followed by intraosseous access, central lines and venous cutdown
maneuvers as alternate strategies [15]. Intraosseous (IO) lines (18 gauge in infants and 15
gauge in young children) can be used to infuse all resuscitative fluids including blood and
medications. Preferred sites for IO insertion include the proximal tibia below the level of the
tibial tuberosity; other sites include the distal tibia, distal femur, iliac crest, and proximal
humerus. Central venous access allows for the monitoring of central venous pressures.
Venous cut down is most time consuming with preferred sites being the ankle (greater
saphenous vein anterior to the medial malleolus) or the proximal thigh (below the saphenous-
femoral junction).
Inadequacy of circulation, or shock, should be recognized and addressed quickly in
pediatric patients. In trauma patients, the underlying etiology is presumed to be hemorrhage
until proven otherwise. Physical exam should include vital signs, capillary refill, skin color,
body temperature, mental status and peripheral pulses. The earliest sign of hypovolemia is
tachycardia, followed by increased diastolic pressure and narrowing pulse pressure. As stated
previously, hypotension is a late and ominous finding in the pediatric patient. Initial bolus of
crystalloid solution (20cc/kg for mild shock and 40cc/kg for severe shock) should be followed
by close monitoring of patient response, with second crystalloid bolus as needed.
Uncrossmatched 0 negative blood should be available for transfusion if patients are actively
bleeding or fail to respond or respond transiently to this initial crystalloid resuscitation.
Massive transfusion protocols (MTP) decrease morbidity and mortality in pediatric and
adult trauma patients by expediting time to transfusion and replacing red blood cells, plasma,
and platelets in a fixed ratio (1:1:1) to minimize coagulopathy, hypothermia and acidosis [16,
17]. The MTP should be activated when the need for transfusion is anticipated to exceed half
of a blood volume in 12 hours or one whole blood volume within a 24-hour time frame [18].
The total circulating volume can be estimated at 80 ml/kg of body weight. Many centers also
incorporate guided resuscitation strategies using viscoelastic studies as an adjunct or
replacement for empiric fixed-ratio transfusion. These studies, which include
thromboelastography (Haemonetics© TEG©) or thromboelastometry (TEM, © TEM systems
Inc.) are superior to conventional tests of coagulation like prothrombin time (PT) and partial
thromboplastin time (PTT) in that they can provide detailed information regarding clot
formation, kinetics, strength and breakdown in a matter of minutes. Research in both adult
and pediatric patients demonstrates that TEG derangements correlate with conventional tests,
are better predictors of poor outcome and need for transfusion [19-21], and can be used to
target a patient’s specific coagulation deficiencies during a resuscitation [22, 23]. Using this
whole blood test, providers can assess whether patients require plasma, cryoprecipitate,
platelets, or tranexamic acid. A normal tracing, sample protocol and transfusion trigger
guideline are included (Figure 1, Figure 2 and Table 2). Of note, transfusion can be informed
by these laboratory values but as with any testing adjunct, but ultimately a patient’s clinical
presentation and hemodynamic status should guide clinical decision-making.
Figure 1. Normal thromboelastography tracing.
Table 2. TEG transfusion triggers (Children’s Hospital of Pittsburgh Trauma Service)

Figure 2. TEG targeted resuscitation algorithm (Children’s Hospital of Pittsburgh Trauma Service).
Disability
Table 3. Glasgow Coma Scale (GCS) modified for pediatric patients
Eye Opening Response
SCORE >1 YR <1 YR
4 Spontaneous Spontaneous
3 To verbal command To voice
2 To pain To pain
1 None None
Motor Response
SCORE >1 YR <1 YR
6 Obeys commands Spontaneous
5 Localizes pain Localizes pain
4 Withdraws to pain Withdraws to pain
3 Abnormal flexion to pain Abnormal flexion to pain

(decorticate) (decorticate)
2 Abnormal extension to pain Abnormal extension to

(decerebrate) pain (decerebrate)
1 None None
Verbal Response
SCORE >5 YR 2-5 YR 0-2 YR
5 Oriented and converses Appropriate words and Babbles, coos

phrases appropriately
4 Confused conversation Inappropriate words Cries but is consolable
3 Inappropriate words Persistent crying or Persistent crying or

screaming to pain screaming to pain
2 Incomprehensible sounds Grunts or moans to pain Grunts or moans to pain
1 None None None
Severity of head injury: Mild: 13-15, Moderate 9-12, Severe 3-8

Evaluation for disability includes a mental status exam (Glasgow Coma Scale), pupillary
exam, assessment of extremity motor and sensory function, and general tone. An age-
appropriate GCS score can be calculated using the modified version of the adult scale (Table
3), or the simplified AVPU (A-Awake; P-Pain; V-Verbal; U-Unresponsive) scoring system
can be utilized.
Exposure/Environment
The patient must be fully exposed and examined quickly from head to toe for immediate
life-threatening injuries. All clothing should be removed, patient should be rolled while
maintaining C-spine immobilization to permit assessment of the back as well as a rectal exam
if indicated. Evaluation should include area under cervical collar and any splints or bandages
that may have been placed in the pre-hospital setting. Spinal column stabilization should be
maintained until injury is ruled out and manual immobilization may be utilized while collar is
temporarily removed.
The counterpart to exposure is consideration of the environment and the potential for
hypothermia in children. Though smaller in size overall, infants and children have a
proportionately large body surface area relative to their weight that predisposes them to
greater amounts of heat loss and resulting hypothermia. Maintenance of normothermia is
critical in preventing coagulopathy, cardiorespiratory compromise and unnecessary increase
in metabolic demands [24]. In addition to increased room temperature, additional methods
such as warmed blankets, head wraps, warmed humidified oxygen, warmed fluids and blood,
and radiant heat sources should be utilized promptly [4].
Adjuncts to the Primary Survey
Chest radiograph, pelvis radiograph and focused assessment with sonography in trauma
(FAST) are used to investigate for additional life-threatening injuries (namely bleeding into
the chest, abdomen and pelvic compartments). Chest and pelvic radiographs can often be
performed concurrently with the primary survey if resources are available. FAST is portable,
rapid, inexpensive and minimizes radiation in pediatric trauma patients. This bedside
ultrasound evaluates for traumatic free fluid in four windows: hepatorenal, perisplenic,
retrovesicular and pericardial space (Figure 3). Free fluid appears anechoic adjacent to the
landmark organs (Figure 4 and 5). Importantly, up to 30% of children with solid organ injury
have no visible free fluid on FAST, decreasing the sensitivity of this exam for solid organ
injuries and limiting the prognostic value of a negative exam [25]. In hemodynamically
unstable children, a positive FAST may help to pinpoint the location of hemorrhage in the
abdomen or the pericardial space, and aid in planning of targeted surgical intervention. In
hemodynamically stable children, a positive FAST examination may indicate the need for
computed tomography (CT) imaging, closer observation, repeat abdominal examinations, or
repeat ultrasound examinations [25-27]. As in adults, FAST poorly detects retroperitoneal and
hollow viscus injury.
SECONDARY SURVEY
A full body, head to toe evaluation of each trauma patient should follow the primary
assessment and any interventions to address life-threatening injuries. Careful and thorough
inspection, palpation, auscultation and functional examination should be performed to find
injuries not evident on the primary survey. Frequent re-assessment of the ABCs including
q5minute vital signs should occur throughout the initial evaluation of the patient until
stabilization has been assured.
Figure 3. Anatomic locations for probe placement in focused assessment with sonography in trauma
(FAST) exam.
During the secondary survey, non-emergent procedures may be performed including

foley catheter insertion and nasogastric tube placement. Attention is devoted to analgesia,
antibiotic and tetanus administration when appropriate. Additional imaging not completed in
the primary survey, including extremity radiographs, cervical spine films, and computed
tomography (CT) may be obtained. A detailed AMPLE history is also obtained at this time
(A-Allergies; M-Medications; P-Past medical history; L-Last oral intake; E-Events
surrounding injury).
Figure 4. Ultrasonogram revealed free fluid in the paracolic gutter (right) and perisplenic (left) [28].
Figure 5. Longitudinal sonogram showed free fluid (arrow) associated with ileal perforation in pelvic
cavity [28].
Advanced Imaging
CT scan is frequently used in the evaluation of patients with blunt abdominal trauma as it
provides detailed anatomic images of solid organs including retroperitoneal and vascular
structures. Some indications for CT scan may include intubated children with multisystem
trauma, abdominal pain and tenderness on examination, physical exam signs including
abdominal bruising, abrasions or seatbelt sign, gross hematuria, free fluid on FAST
examination, and suspected child abuse with elevated liver function tests. Limitations of CT
scan include potential for cardiovascular decompensation upon transfer to the radiology suite,
burden of radiation exposure, cost, and potential reaction to IV contrast materials. In light of
the association between radiation exposure and future malignancy, thoughtful utilization of
CT scan and decreased emphasis on “full body” scanning or “trauma pan-scan” is essential in
pediatric trauma practice.
Transfer
Pediatric patients have increased survival when cared for at designated pediatric trauma
centers. Survival is still improved when patients receive care at a designated trauma center,
whether adult, pediatric or combined, as compared to a non-trauma center [29-31]. Consider
transfer in patients with significant mechanism (penetrating trauma, fall from significant
height, ejected from vehicle, death of occupant in same compartment, motor vehicle collision
that is high speed, involves vehicle rollover or prolonged extrication) or significant injury
(multiple long bone fractures, polytrauma, amputation, spinal cord injury, spine fracture,
severe head or polytrauma) [25].
SOLID ORGAN INJURY

Solid organ injury is common is pediatric trauma patients. The spleen is the most
commonly injured solid organ (25% to 39%), followed by the liver (15% to 37%), kidney
(19% to 25%) and pancreas (7%) [32]. Solid organ injury should be suspected based on
physical exam findings and injury mechanism. Injury mechanism such as abrupt deceleration
(restrained MVA with a lap belt), impact from handlebar of bicycle/all terrain vehicle, or
trauma from a direct blow to the abdomen should raise suspicion for intraabdominal injury.
Specifically, patients with evidence of abdominal wall trauma or seat belt sign, GCS < 13 and
concern for abdominal injury, complaints of abdominal pain or presence of abdominal
tenderness, evidence of thoracic wall trauma, decreased breath sounds, vomiting, AST/ALT
>200/125, elevated amylase/lipase, 100 RBC on urinalysis, gross hematuria or positive FAST
should undergo additional imaging with CT scan if hemodynamically stable versus fluid
resuscitation and/or operative intervention if hemodynamically compromised. Patients
without these signs and symptoms are at very low risk for intra-abdominal injury and can
likely be observed without additional imaging or intervention [33].
Spleen and Liver
Management and outcomes of the pediatric patient with solid organ injury differs
dramatically from management of the adult patient with similar grade of injury. Splenic
injury (Figure 6) and hepatic injury (Figure 7) are typically successfully managed non-
operatively with serial abdominal exams, serial hematocrit testing, bowel rest and bed rest,
even with high grade injuries [33]. Sample algorithms for low grade (1-2) and high grade (3-
5) injuries can be seen in Figures 8 and 9. Immediate operative intervention is indicated in
patients with peritonitis and hemodynamic instability. Failure of non-operative management
in patients attempting conservative management is signified by worsening abdominal exam,
ongoing transfusion requirements and hemodynamic instability (particularly hypotension)
[34]. Surgical intervention for splenic injury may include partial or total splenectomy. Similar
to adults, children should be vaccinated against encapsulated bacteria to reduce the risk of
overwhelming post-splenectomy sepsis. Hepatic injury is responsible for most fatal solid
organ injuries and can result in significant hemorrhage and massive blood loss. Optimum
surgical management often includes a damage control strategy, where perihepatic packing is
employed to tamponade the bleeding, temporary closure of the abdomen is performed, and
patients are stabilized and resuscitated in the ICU prior to return to the OR for definitive
management of injuries and abdominal closure [35, 36].
Kidney and Pancreas
Kidney injury (Figure 10) is similarly managed non-operatively, with surgery or

interventional radiology procedures such as stents being reserved for patients with
hemodynamic instability, expanding retroperitoneal hematoma, vascular pedicle injury,
urinomas, or major renal vascular injury [25]. Pancreatic injury (Figure 11) is uncommon,
and optimal management is debated amongst experts. For both penetrating and
blunt pancreatic injuries, the presence of main pancreatic ductal injury and the location of
injury (proximal vs distal) are the major factors guiding management decisions. For
main pancreatic ductal injury (Grade 3-5), surgery is the preferred approach with distal
pancreatectomy (Figures 12a-c) for most distal duct injuries and conservative interventions
(closed suction drainage and endoscopic stenting) for proximal ductal injuries involving the
head of the pancreas [37]. Preservation of the spleen, particularly in pediatric patients, should
be prioritized if possible. Radical procedures such as pancreatico-duodenectomy (trauma
Whipple) or the creation of pancreatic-enteric anastomoses are not widely recommended.
Non-operative management has been utilized for patients with low-grade injuries, including
post-pyloric feeding, serial exams, and serial amylase testing. Failure of non-operative
management is indicated by worsening abdominal exam or persistent elevation in amylase.
Patients with ductal disruption have a high likelihood of non-operative management failure
and complications such as increased length of stay, need for delayed intervention, pseudocyst
formation and pancreatic fistulae [37-39].
Figure 6. Grade 5 splenic injury.
Figure 7. Grade 4 liver laceration with large subcapsular hematoma.

Figure 8. Grade 1 and 2 liver/spleen injury management protocol (Children’s Hospital of Pittsburgh
Trauma Service.
Figure 9. Grade 3-5 liver/spleen injury management protocol (Children’s Hospital of Pittsburgh Trauma
Service).
Figure 10. Grade 4 laceration of kidney with perirenal hematoma and obstruction of ureter at the pelvic
junction.
Figure 11. Grade 4 pancreatic transection with non-enhancing head and uncinate process, normally
enhancing body and tail.
Figure 12a. Complete transection of the pancreatic body after a football injury. The arrow points to the
transection hematoma and the star marks the pancreatic tail.

Figures 12b and c. Intraoperative findings of the patient in figure 12a. 12b: Laparoscopic view onto the
pancreatic transection hematoma (arrow) after the gastrocolic ligament was divided and the lesser sac
entered. Note that the stomach and the left liver lobe are retracted with a liver retractor. Pancreatic head
(star) and pancreatic tail (diamond) are clearly visualized. 12c: After laparoscopic distal
pancreatectomy, the portal vein (arrow) and the splenic vein (diamond) are exposed. The pancreatic
head (star) was stapled just proximal to its transection.
HOLLOW VISCUS INJURY

Hollow viscous injuries involve the jejunum, duodenum, colon, and stomach (15%) in
decreasing order of frequency [32]. The diagnosis of intestinal injury can be challenging as
imaging is less sensitive than for solid organ injuries and a patient’s symptoms may be mild,
delayed and nonspecific. Clinicians, therefore, should have a high index of suspicion in
patients with a direct blow to the abdomen, a deceleration mechanism (e.g., belted patient in
MVC), handle-bar injury, or associated lumbar spine injury [40]. Physical exam findings
include tachycardia, abdominal wall bruising or seat-belt sign [41, 42]. Symptoms may
include abdominal pain, peritonitis, and bilious emesis. Radiologic indicators may include
free fluid, but often imaging is normal. Laboratory findings may include elevated lipase,
white blood cell count or lactate. The injuries resulting from hollow viscus trauma can
include frank bowel perforation or tearing, bowel wall hematoma, and mesenteric tears that
may devascularize bowel and result in ischemia or necrosis. Operative intervention is
indicated in patients with peritonitis or in patients with a high degree of suspicion for injury
based on the presence of above factors.
THORACIC TRAUMA
Thoracic trauma in pediatric patients is due largely to blunt force mechanism (80-85%)
and results from motor vehicle crashes, pedestrian accidents, falls, and recreational injuries.
Thoracic trauma comprises only 5-12% of pediatric trauma admission. While uncommon,
injuries to the thorax can be highly lethal; chest trauma is the second leading cause of death
from trauma after closed head injury with a 4-12% mortality rate in isolation and 40%
mortality rate when associated with other injuries [43].
Assessment of thoracic injuries includes inspection, palpation and auscultation of the
entire chest. Chest radiograph is adequate in the assessment of most thoracic trauma, as chest
CT is costly, exposes patients to significant radiation, and rarely changes management of
pediatric injuries [45]. Repeat imaging may be indicated to document resolution/improvement
in pneumothoraces or to assess for blossoming pulmonary injury later in the post-injury
period. Tracheobronchial injuries are not well-visualized with conventional radiology and
should instead be diagnosed via bronchoscopy. This injury should be suspected with
persistent air leak from a chest tube placed in the setting of pneumothorax, subcutaneous
emphysema, or pneumomediastinum.
The most common injury after blunt trauma is pulmonary contusion [44], which can be
seen in the absence of rib fracture or evidence of trauma on physical exam [25]. Management
includes close observation and aggressive pulmonary toilet. As mentioned above, rib fractures
in pediatric patients are less common due to the pliable and incompletely ossified nature of
the skeletal structures. Therefore their presence should signify a greater force of injury and
raise the level of suspicion for intra-thoracic and intra-abdominal organ injuries.
Pneumothorax, and less often hemothorax, are managed with tube thoracostomy as in adult
patients.
Penetrating injuries include impalement and firearm injuries. Emergency department
thoracotomy is indicated in pediatric patients with penetrating chest trauma only who lose
vital signs immediately prior to arrival or in the trauma bay. However, pediatric patients have
an even lower rate of survival with this procedure than due adult patients, thought the be due
to the higher proportion of blunt chest trauma mechanism [46].
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Chapter 32
BURNS

and Stefan Scholz3,, MD, FACS, FAAP
1
2
Assistant Professor of Surgery, Johns Hopkins University
Division of Pediatric Surgery, Baltimore, US
3
Children's Hospital of Pittsburgh of UPMC, Pittsburgh, US
ABSTRACT
Children are curious and like to explore their surroundings. A child’s sensitive skin
burns far more easily than adult. Burns and scalds are a major cause of serious injury in
children from newborn to 14 years old. Children under four years, especially those aged
between one and two years are most at risk due to their increased mobility and natural
curiosity.
A severe scald or burn can inflict serious injury and may mean a long stay in the
hospital. It may also require painful skin grafts and years of treatment, and can result in
permanent scarring.
Keywords: pediatric, children, burns, scald, burn classification, burn resuscitation, burn
management
The initial assessment of a pediatric patient with burn injury should follow the same
ABCD algorithm listed in the trauma chapter with some special considerations [1]:

Corresponding Author: Stefan Scholz, MD; [email protected].
Airway/Breathing
Administer 100% O2 via non-rebreather mask until suspicion of carbon monoxide

poisoning or inhalation injury is eliminated. Carbon monoxide toxicity may present as
restlessness, headache, nausea, poor coordination, memory impairment, disorientation, or
coma. Endotracheal intubation should be considered for the following patients: 1) GCS < 8 2)
>20% TBSA burns 3) Patients with nausea/vomiting causing airway compromise 4) Hypoxic
patients with severe smoke inhalation, air hunger, carbonaceous sputum with hoarseness 5)
Patients with flame or flash burns involving face and/or neck 6) Breathing compromised by
tight circumferential trunk burns.
Estimate TBSA
Please review table 1 for classification of burn depth. Use the Rule of Nines method to
estimate percent TBSA (Table 2). In a child, the head accounts for a greater percentage of
total body surface area as compared to an adult (Figure 1). Remove as much soot and debris
as possible for a more accurate assessment. First degree burns are not included in the
estimation, as they do not contribute significantly to fluid shifts.
Table 1. Burn Classification [48]
Classification Characteristics
First degree Partial thickness burns

Characterized by erythema (localized redness)
Appear sunburn-like
Are not included when calculating burn size
Usually heal by themselves
Second degree Partial thickness burns

Part of skin has been damaged or destroyed
Have blisters containing clear fluid
Pink underlying tissue
Third degree Full thickness burns

Full skin has been destroyed
Deep red tissue underlying blister
Presence of bloody blister fluid
Fourth degree Full thickness burns

Penetrate deep tissue to fat, muscle, bone.
Burns 375
Table 2. Total Body Surface Area
Adult Child
Head 9 18
Trunk – front 18 18
Trunk - back 18 18
Arm 9 9
Leg 18 14
Perineum 1 1
CIRCULATION
Obtain intravenous access with two large bore peripheral IVs or intraosseous access and
initiate fluid resuscitation. Foley catheter placement is indicated in patients with >20% BSA
or perineal burns. Fluid resuscitation calculation for children >14 years and > 40 kg follows
the adult protocol based on the Parkland formula: 24 hour fluid requirements = 4cc x Weight
in kg x % total body surface area burned. Half the amount should be given in the first 8 hours,
and the second half in the next 16 hours. Hourly urine output should be maintained at
0.5cc/kg/hour and fluids adjusted accordingly. Fluid resuscitation calculation for children <14
years and <40 kg is modified as follows: 24 hour fluid requirements = 3cc x Weight in kg x %
total body surface area burned. Half the amount should be given in the first 8 hours, and the
second half in the next 16 hours. Hourly urine output should be maintained at 1.0cc/kg/ hour.
Example: 70 kg patient with 50% burn

4cc x 70 kg x 50% = 14,000cc/24 hours
14,000cc/2 = 7,000cc
7,000cc/8hrs = 875cc/hr for first 8 hours, followed by 7,000cc/ 16 hrs = 437.5cc/hr
for next 16 hours
DISABILITY
Assess neurological status using GCS and patient’s behavior, motor exam, and peripheral
pulses. Agitation, combativeness, and unconsciousness can be signs of inhalation injury,
carbon monoxide poisoning, or co-morbid trauma.
EXPOSURE/ENVIRONMENT
Remove sources of heat including clothing and flush skin as appropriate to remove any
residual chemicals. Chemicals that are in dry powder form must be brushed away prior to
flushing with water. Remove all jewelry, as it may impair circulation to extremities as
swelling occurs. Increase ambient temperature; cover patient with clean dry sheet and
warming blanket, if necessary, to prevent hypothermia.
OTHER CONSIDERATIONS
Pain should be addressed early in resuscitation with IV opioids. Consider transfer to a
designated burn center if available after initial stabilization. If there is a concern for abusive
injuries or injury due to inappropriate supervision, alert the appropriate authorities. Some
factors that may raise concern include injury pattern inconsistent with the event description,
well-demarcated burn pattern, burns to buttock, perineum, palms or soles, associated injuries
or underlying fractures, or delay in seeking medical attention [2].
Figure 1. Total body surface area composition in adults versus children.

Burns 377
REFERENCES
[1] Benedum Trauma Program. Burn Practice Guidelines, In: Children’s Hospital of
Pittsburgh of UPMC, editor. Pittsburgh, PA, 2014.
[2] Office of Juvenile Justice and Delinquency Prevention. Burn Injuries in Child Abuse. In:
U.S. Department of Justice, editor. Washington, DC, 2001.
Chapter 33
CHILD ABUSE

and Stefan Scholz3, MD, FACS, FAAP
1
2
Assistant Professor of Surgery, Johns Hopkins University
Division of Pediatric Surgery, Baltimore, US
3
Children's Hospital of Pittsburgh of UPMC, Pittsburgh, US
ABSTRACT
The management of abused children is particularly challenging. The diagnosis is
commonly delayed. The earlier abused children get help, the greater chance they have to
heal. By learning about common signs of abuse and what can be done, a huge difference
in a child’s life can be made.
Keywords: public health issue, diagnose challenge, screening and management
Abusive head trauma (AHT) is an urgent public health issue. The incidence of AHT is
estimated to be 20-30 cases per 100,000 children [49] with a case fatality rate that ranges
from 15-35%, much higher than the single digit mortality rates for “all-comers” in pediatric
trauma [1-3]. For those who survive their injuries, more than 66% of patients will suffer
permanent significant disability. Neurologic, cognitive and behavioral deficits have been
observed in victims of AHT in the immediate post-injury period as well as decades later [4-
7]. AHT preferentially affects young children. Presentation to care for abused patients peaks
around 2-3 months of age, and the majority of children are 2 years of age or younger [1, 8].
Somewhere between one quarter and one half of all hospital admissions for traumatic brain
injury in patients less than 2 years of age is due to AHT [2, 3].
Table 1. Child Abuse screening and management
Red Flag Findings
medical •There is no history of trauma in an infant or young child with physical injuries
history •The history is inconsistent with the injuries
•The history is not consistent with the development of the child
•The history of how the injuries occurred changes
•There is a delay in calling 911 or seeking reasonable medical care
physical •Bruising, petechiae or subconjunctival hemorrhage in a non-ambulatory child

exam •Any bruise in a non-exploratory location in a child < 4yr
TEN-FACES region – Torso, Ears, Neck, Frenulum tear, Auricular region, Cheek,
Eyelid, Subconjunctiva
•Patterned bruises, marks, or scars
•Head circumference > 95%ile
•A fussy infant without an obvious etiology
radiology •Metaphyseal fractures (bucket-handle, corner, chip)

•Rib fractures (especially posterior)
•Multiple fractures
•Any femur fracture in a child < 24 months of age
•An unexpected finding of a healing fracture
•Subdural hematoma (SDH) and/or subarachnoid hematoma (SAH) in an infant who
has not been in a Motor Vehicle Collision, particularly in the absence of a skull fracture
Imaging guidelines
• Skeletal survey
o All children with suspicion of physical abuse < 2 yrs of age
o Consider in 2-5 yr old with intracranial hemorrhage, abdominal injury, developmental
delay, excessive bruising
• Head CT
o Age < 6 months and either bruising or fractures concerning for abuse
o Age 6-12 months UNLESS normal mental status AND normal hemoglobin AND no
facial bruising and OFC %ile consistent with weight %ile and has not crossed
percentiles.
o Age < 12-18 months if neurologic symptoms (including soft symptoms such as
vomiting, fussiness) with other injury concerning for abuse
• Abdominal/Pelvis CT with contrast
o Signs/symptoms of abdominal trauma (bruising to abdomen or torso)
o ALT or AST > 80
Specialist consultation
•Ophthalmology – dilated eye exam

•Social Work
•Neurosurgery, if intracranial hemorrhage findings
•Neurology, if seizures
Child Abuse 381
Several unique characteristics of this patient cohort can make conducting research and
caring for abused children particularly challenging. First, the diagnosis is commonly missed
by providers and can be extremely delayed; young patients cannot report their history and
guardians may not be forthcoming or aware of the abuse [9-11]. Second, identifying a single
time of injury is often impossible as patients likely have suffered multiple discrete events
over a period spanning days to months [12]. The abusive head injury population differs
clinically from the accidental head injury population in that they have higher mortality rates
[1-3] and worse neurologic outcomes [1, 4-8].
It is now widely theorized that the pathophysiology of brain damage in abusive head
trauma does not result from a direct traumatic mechanism but instead from a hypoxic-
ischemic insult that occurs after trauma-induced apnea [13-16]. Hyperextension injury to the
neck due to violent shaking has been implicated in damaging the central pattern generator of
respiration in the brainstem [13].
Evaluation of patients with suspected child abuse should include a thorough medical
history and physical exam. Patterns of and “red flags” for abuse, imaging guidelines, and
specialist consultation are highlighted in Table 1 [17]. The appropriate authorities must be
notified and provisions made for the injured child and any other children in the home who
may be at risk.
CONCLUSION
Accidental and intentional injury are a significant source of morbidity and mortality for
children worldwide. For trauma practitioners, providing timely and appropriate care of these
injured children may make the difference between life and death. Teamwork, preparation and
organization are critical in providing optimal care to the pediatric trauma patient. A
methodical and practiced approach will allow for the diagnosis and treatment of potentially
life-threatening injuries in a timely fashion.
REFERENCES
[1] Keenan H. T., Runyan D. K., Marshall S. W., Nocera M. A., Merten D. F., Sinal S. H.
A population-based study of inflicted traumatic brain injury in young children. Jama,
2003; 290(5):621-6.
[2] Roaten J. B., Partrick D. A., Nydam T. L., Bensard D. D., Hendrickson R. J., Sirotnak
A. P., Karrer F. M. Nonaccidental trauma is a major cause of morbidity and mortality
among patients at a regional level 1 pediatric trauma center. Journal of pediatric
surgery, 2006; 41(12):2013-5.
[3] Ettaro L., Berger R. P., Songer T. Abusive head trauma in young children:
characteristics and medical charges in a hospitalized population. Child abuse and
neglect, 2004; 28(10):1099-111.
[4] Lind K., Toure H., Brugel D., Meyer P., Laurent-Vannier A., Chevignard M. Extended
follow-up of neurological, cognitive, behavioral and academic outcomes after severe
abusive head trauma. Child abuse and neglect, 2015.
[5] Duhaime A. C., Christian C., Moss E., Seidl T. Long-term outcome in infants with the
shaking-impact syndrome. Pediatric neurosurgery, 1996; 24(6):292-8.
[6] Makaroff K. L., Putnam F. W. Outcomes of infants and children with inflicted
traumatic brain injury. Developmental medicine and child neurology, 2003; 45(7):497-
502.
[7] Miller T. R., Steinbeigle R., Wicks A., Lawrence B. A., Barr M., Barr R. G. Disability-
adjusted life-year burden of abusive head trauma at ages 0-4. Pediatrics, 2014;
134(6):e1545-50.
[8] Niederkrotenthaler T., Xu L., Parks S. E., Sugerman D. E. Descriptive factors of
abusive head trauma in young children--United States, 2000-2009. Child abuse and
neglect, 2013; 37(7):446-55.
[9] Jenny C., Hymel K. P., Ritzen A., Reinert S. E., Hay T. C. Analysis of missed cases of
abusive head trauma. Jama, 1999; 281(7):621-6.
[10] Sheets L. K., Leach M. E., Koszewski I. J., Lessmeier A. M., Nugent M., Simpson P.
Sentinel injuries in infants evaluated for child physical abuse. Pediatrics, 2013;
131(4):701-7.
[11] Ravichandiran N., Schuh S., Bejuk M., Al-Harthy N., Shouldice M., Au H., Boutis K.
Delayed identification of pediatric abuse-related fractures. Pediatrics, 2010; 125(1):
60-6.
[12] Adamsbaum C., Grabar S., Mejean N., Rey-Salmon C. Abusive head trauma: judicial
admissions highlight violent and repetitive shaking. Pediatrics, 2010; 126(3):546-55.
[13] Hadley M. N., Sonntag V. K., Rekate H. L., Murphy A. The infant whiplash-shake
injury syndrome: a clinical and pathological study. Neurosurgery, 1989; 24(4):536-40.
[14] Johnson D. L., Boal D., Baule R. Role of apnea in nonaccidental head injury. Pediatric
neurosurgery, 1995; 23(6):305-10.
[15] Matschke J., Buttner A., Bergmann M., Hagel C., Puschel K., Glatzel M.
Encephalopathy and death in infants with abusive head trauma is due to hypoxic-
ischemic injury following local brain trauma to vital brainstem centers. International
journal of legal medicine, 2015; 129(1):105-14.
[16] Geddes J. F., Vowles G. H., Hackshaw A. K., Nickols C. D., Scott I. S., Whitwell H. L.
Neuropathology of inflicted head injury in children. II. Microscopic brain injury in
infants. Brain: a journal of neurology, 2001; 124(Pt 7):1299-306.
[17] Benedum Trauma Program. Child Abuse Screening Guideline. In: Children’s Hospital
of Pittsburgh of UPMC, editor. Pittsburgh, PA 2014.
ABOUT THE EDITOR
After five years of pediatric surgery residency in the Department of Pediatric Surgery of
Tunis, Clermont-Ferrand, Paris, and Montpellier, Taieb Chouikh was named as an assistant
professor of pediatric surgery at the Tunis School of Medicine after succeeding in the first
position at the national exam.
After one year, he joined the Franche-Comté University and the Department of Pediatric
Surgery of Besançon as a special registrar for one year. Today Taieb Chouikh is a Special
registrar of pediatric surgery in both Necker-Enfants malades Hospital Paris and Robert
Ballanger Hospital where he continues his progression and the acquisition of knowledge and
experience in the field pediatric surgery.
INDEX
accounting, 271, 304, 314, 337

# acetylcholine, 107, 151
acetylcholinesterase, 104
α-fetoprotein, 57 achalasia, 148, 150, 153, 154
β-HCG, 305 acid, 5, 42, 87, 140, 141, 142, 144, 159, 225, 228,
β-human chorionic gonadotropin, 57 234, 279, 329, 353
acidosis, 92, 93, 96, 232, 353
acquisition phase, 210
ACTH, 148
A
acute abdomen, xvi, 177, 297, 298, 323
abdominal, xii, xiii, xv, xvi, 3, 5, 8, 14, 15, 18, 25, acute abdominal pain, 39, 40, 44, 55, 171
29, 30, 31, 32, 33, 34, 35, 37, 38, 39, 40, 42, 43, acute appendicitis, xi, 37, 38, 39, 40, 43, 44, 45, 298
56, 57, 58, 62, 71, 73, 89, 90, 93, 98, 101, 102, acute infection, 219, 224
103, 109, 110, 111, 112, 113, 116, 120, 121, 129, acute kidney failure, 232
137, 138, 139, 142, 143, 161, 165, 166, 167, 171, acute pyelonephritis, 217, 219, 228
172, 175, 176, 177, 180, 190, 197, 199, 259, 260, adenocarcinoma, 80, 88, 134, 168, 274
261, 262, 263, 265, 266, 271, 272, 277, 279, 282, adenoma, 290, 293, 294
287, 290, 291, 292, 293, 297, 298, 303, 304, 306, adenopathy, 228, 298
310, 311, 313, 314, 316, 321, 322, 323, 324, 328, adenovirus, 35
329, 334, 349, 350, 357, 360, 361, 367, 368, 370, adhesion, 56, 159, 172
371, 380 adnexal injury, xii, 55
abdominal computer tomography (CT), 39, 40, 42, adolescents, 276, 283, 304, 309, 337, 344, 345, 369
59, 62, 91, 126, 127, 128, 129, 130, 131, 165, adrenocorticotropic hormone, 148
166, 175, 176, 193, 270, 271, 273, 274, 276, 278, adulthood, xiv, 81, 88, 95, 132, 181, 190, 191, 192,
281, 287, 288, 290, 291, 292, 293, 298, 306, 313, 194, 199, 235, 265
316, 323, 324, 329, 330, 341, 357, 358, 360, 368, adults, xiii, xvi, 39, 59, 88, 128, 132, 137, 138, 191,
380 192, 194, 197, 349, 350, 352, 357, 361, 376
abdominal mass, xv, 29, 38, 56, 165, 171, 175, 177, aetiology, 118, 265
197, 271, 287, 290, 293, 297, 298, 304, 316, 322 afebrile, 10
abdominal pain, 33, 37, 38, 39, 43, 57, 62, 101, 139, a-fetoprotein, 292, 340
161, 165, 175, 177, 290, 293, 298, 304, 323, 328, Africa, 21
360, 367 age, xii, xiv, xv, 4, 6, 15, 16, 18, 19, 24, 27, 28, 29,
abdominal tenderness, 42, 57, 165, 360 33, 38, 44, 47, 55, 57, 80, 93, 94, 101, 116, 128,
abdominal ultrasound, 3, 39, 42, 116, 161, 166 129, 130, 131, 148, 160, 165, 167, 181, 187, 189,
absolute lung to head ratio (LHR), 91, 93 190, 192, 199, 206, 209, 211, 216, 220, 221, 224,
abuse, xvi, 379, 380, 381, 382 236, 245, 246, 255, 259, 263, 264, 276, 277, 278,
access, 7, 8, 17, 31, 43, 72, 115, 186, 234, 279, 353, 282, 286, 292, 293, 303, 313, 314, 315, 318, 322,
375 324, 326, 327, 331, 333, 334, 340, 342, 345, 351,
352, 357, 379, 380
386 Index
agenesis, 82, 118, 188, 189, 204, 260 antibio-prophylaxis, 211

agonist, 4 antibiotic, 41, 42, 43, 77, 159, 160, 221, 224, 227,
airways, 139 228, 235, 358
alcohol consumption, 4 antibody, 328
algorithm, 227, 294, 342, 351, 355, 373 antiepileptic drugs, 200
alkalosis, 3, 5, 7 antigen, 57, 328
allantois, 311 antimullerian hormone, 261
allele, 244 antrum, 6, 9
allelic loss, 332, 333 anus, xiii, 29, 171, 182, 183, 184, 188, 189, 193, 312
allergy, 120 anxiety, 24, 199, 200
Allgrove syndrome, 148 aorta, 129, 135
alpha 1 antitrypsin deficit, 158 apex, 34
alpha blocker, 235, 236 aplasia, 188
alpha-fetoprotein (AFP), 57, 270, 287, 288, 289, 290, apnea, 10, 19, 139, 293, 381, 382
305, 319, 340, 342, 345 appendectomy, 34, 41, 42, 43, 44, 45
ALT, 360, 380 appendicitis, xi, xii, 37, 38, 39, 40, 41, 42, 43, 44,
Alvarado score, 40, 43 45, 298
alveoli, 315 appendicular abscess, 39, 42, 43
amenorrhea, 113, 305 appetite, 4, 38
American Heart Association, 369 ARM, xiv, 181, 182, 183, 184, 185, 186, 188, 189,
amniocentesis, 70 190, 191, 192
amniotic fluid, xii, 70, 83, 97, 98, 100, 103, 106, arteriovenous shunt, 292
107, 113, 118, 237 artery, 23, 126, 129, 143, 198, 264
amniotic remnants, 109, 111 arthrotomy, 9
ampulla, 99, 163, 177 ascending testes, 260
amputation, 360 ascites, 24, 160, 165, 205, 232, 293, 304, 305, 306
amylase, 167, 175, 360, 361 Asia, xiii, 82, 163
analgesic, 222 aspirate, 7, 329, 330
anastomosis, 34, 73, 74, 75, 76, 83, 85, 99, 100, 102, aspiration, 5, 7, 56, 72, 77, 79, 80, 139, 140, 142,
104, 105, 106, 167, 177, 251, 255, 264 148, 271, 273
anastomotic fistula, 76 associated malformations, xiii, xiv, 68, 69, 70, 73,
anastomotic leak, 74, 77, 86 82, 98, 99, 105, 109, 113, 117, 147, 174, 181,
anastomotic stricture, 76, 77, 78, 86, 87, 168 182, 183, 186, 187, 190, 192, 280
anatomic site, 314, 317 asthma, 80, 128, 134
anatomy, xiv, xv, 59, 70, 73, 75, 139, 166, 174, 177, asymptomatic, xiii, 15, 16, 101, 103, 125, 127, 130,
181, 182, 189, 191, 218, 265, 285, 313, 350 131, 165, 167, 169, 201, 203, 205, 210, 213, 270,
androgen, 244, 256, 261 271, 274, 275, 281, 287, 291, 292, 293
androgen stimulation, 261 ataxia, 328
androgens, 305 atelectasis, 274
anemia, 157, 175, 328 atrium, 323
anesthesiologist, 73 atrophy, 16, 20, 51, 260, 264, 272
anesthetics, 75 attachment, 23, 56, 102
anger, 119 auscultation, 42, 352, 358, 368
angulation, 211 authorities, 81, 376, 381
aniridia, 322 autoimmunity, 148
annual rate, 285 autonomy, 116
annular pancreas, 98, 99 autopsy, 172
anorchia, 262 autosomal dominant, 188, 189, 216
anorexia, 29, 290, 323 autosomal recessive, 103, 107, 148
antacids, 141 avoidance, 141, 200
antenatal diagnosis, 173 awareness, 246
antenatal hydronephrosis, 212, 216, 225
anterior mediastinum, 270, 271, 272, 274, 311
Index 387
body mass index, 44

B body weight, 5, 353
bone, 15, 272, 273, 275, 276, 277, 279, 300, 314,
B cells, 272
324, 328, 329, 330, 331, 333, 334, 339, 360, 374
back pain, 275
bone marrow, 272, 273, 275, 276, 277, 279, 300,
bacteremia, 29
329, 330, 331, 333, 334
bacteria, 361
bone marrow test, 330
barium, 5, 31, 32, 71, 104, 149, 150
bone marrow transplant, 300
barium enema, 104
bone scan, 329
barriers, xiii, 137
bones, 313, 350
base, xv, 184, 185, 234, 241, 242, 253, 274, 370
botulinum toxin, 151
basement membrane, 262
bowel, xi, xii, xiii, xv, 15, 16, 17, 19, 20, 27, 28, 29,
Beckwith-Wiedmann syndrome, 112, 322
33, 34, 90, 94, 97, 98, 99, 100, 101, 102, 103,
Belgium, 92
104, 105, 107, 110, 111, 113, 116, 120, 137, 144,
benign, xvi, 213, 272, 274, 280, 283, 286, 291, 292,
167, 172, 175, 177, 178, 179, 189, 190, 191, 193,
293, 303, 304, 306, 307, 311, 313, 321, 323, 324,
224, 297, 298, 299, 314, 361, 367, 371
340, 342, 344
bowel atresia, 99
bicarbonate, 7
bowel dilation, 99, 100
bilateral, xv, 16, 20, 63, 89, 205, 210, 211, 219, 231,
bowel obstruction, 17, 29, 94, 99, 101, 102, 103,
232, 250, 259, 262, 263, 279, 310, 322, 323, 326,
144, 167, 298
328
bowel perforation, 167, 367
bilateral hydronephrosis, 231, 232
brachytherapy, 317
bile, 99, 156, 158, 159, 160, 161, 164, 165, 167, 168,
brain, 84, 276, 324, 350, 381, 382
291, 315
brain damage, 381
bile duct, 156, 158, 161, 164, 165, 167, 168, 291,
brainstem, 381, 382
315
branching, 82, 89
biliary atresia, xiii, 155, 161, 162, 165, 290
breakdown, 24, 216, 256, 353
biliary leakage, 161
breastfeeding, 104, 184
biliary peritonitis, 165
breathing, 95, 130, 270, 277, 352
biliary tract, 169
bronchial hyperresponsiveness, 80
bilirubin, 140, 161
bronchial tree, 94, 273
biochemistry, 82, 237
bronchogenic cysts, 126, 127, 128, 270, 273, 274
biological markers, 38
bronchopulmonary dysplasia, 92
biopsy, 102, 103, 104, 140, 141, 158, 159, 160, 165,
bronchopulmonary sequestrations, xiii, 125, 126
167, 271, 273, 277, 278, 279, 288, 293, 299, 314,
bronchoscopy, 280, 368
318, 330, 342
bronchus, 68, 130, 270
biosynthesis, 244
brothers, 244
birth weight, xv, 4, 13, 24, 75, 79, 84, 106, 245, 259,
buccal mucosa, 252
286
Budd-Chiari syndrome, 286
births, xii, xiv, 3, 67, 89, 93, 98, 99, 102, 104, 112,
budding, 273
172, 182, 192, 195, 226, 243, 311, 322
burn, xvi, 373, 374, 375, 376
bladder abnormalities, 218
by-products, 327
bleeding, 28, 51, 129, 143, 160, 175, 176, 177, 254,
274, 293, 304, 305, 314, 316, 323, 328, 353, 357,
361 C
blood, 4, 29, 30, 38, 48, 51, 57, 100, 131, 160, 177,
195, 200, 221, 235, 252, 253, 264, 276, 279, 311, CA-125, 305
330, 344, 350, 351, 353, 357, 361 caffeine, 141
blood flow, 30, 51, 57, 100 calcifications, 270, 272, 275, 293, 306, 313, 316, 329
blood pressure, 200, 235, 351 calcitonin, 261
blood supply, 48, 177, 221, 252, 253, 264 calcitonin gene-related peptide, 261
blood vessels, 276, 279 calcium, 150, 160
bloody stools, 15, 29 calcium channel blocker, 150
bochdalek hernia, xii, 89 caliber, 103, 104, 105, 211, 238, 256
388 Index
canal of Nuck, 14 choledochocele, 164

cancer, 57, 80, 168, 169, 286, 318, 330, 344 cholestasis, 157, 158, 160
cancer antigen-125, 57 choriocarcinoma, 272, 305, 340
cancer cells, 330 chorionic gonadotropin, 340
CAP, 224, 225 chromosomal abnormalities, 92, 188
capillary, 5, 350, 353 chromosomal anomaly, 112
capillary refill, 5, 351, 353 chromosome, 148, 188, 330, 332, 333
capsule, 313, 342 chronic renal failure, 236
carbamazepine, 196 cilia, xiv, 195
carbohydrate, 144 circulation, 353, 376
carbon, 153, 374, 375 circumcision, 224, 234, 238
carbon dioxide, 153 cirrhosis, xiii, 155, 157, 158, 164, 165
carbon monoxide, 374, 375 classification, 44, 68, 69, 70, 71, 73, 75, 79, 87, 118,
carcinoembryonic antigen, 329 134, 156, 157, 164, 168, 182, 183, 193, 210, 211,
carcinoid tumor, 42 216, 229, 242, 257, 259, 260, 273, 294, 299, 306,
carcinoma, xv, 128, 133, 134, 272, 274, 282, 289, 307, 308, 312, 313, 315, 316, 317, 318, 319, 326,
290, 291, 309, 324 333, 373, 374
cardiac arrhythmia, 142 Claude Bernard Horner’s syndrome, 275
cardiologist, xiv, 181, 190 clinical examination, 16, 38, 48, 73, 165, 184, 186,
cartilage, 82, 130, 196 306
case study, 179 clinical presentation, 4, 48, 52, 101, 103, 104, 160,
catecholamine, 270, 271, 275, 276, 328, 329, 330 161, 166, 277, 303, 315, 323, 328, 350, 353
catheter, 31, 234, 238, 352, 358 clinical symptoms, 270, 314
Caucasian population, 182 clinical syndrome, 4
causation, 4 cloaca, 182, 183, 191, 229
CBD, 163, 165, 166 closure, 24, 74, 93, 102, 115, 118, 120, 248, 249,
cecum, 56 251, 252, 253, 255, 256, 313, 361
cell line, 196 clothing, 5, 357, 375
cell membranes, 141 clusters, 128
cellular immunity, 272 CO2, 75, 93
central nervous system, 70, 91, 143, 188, 339 coagulopathy, 160, 353, 357, 369
cervical esophageal duplication, 175, 176 cocaine, 7
cervix, 29 coccyx, 186, 313
CHARGE, 68, 70 COHEN procedure, 222
Chediak-Higashi syndrome, 304 colic, xi, 27, 38, 103
chemical, 119, 375 collaboration, xiv, 132, 181
chemotherapy, 273, 276, 277, 278, 279, 289, 291, collagen, 223
299, 300, 310, 311, 314, 316, 317, 318, 325, 328, colon, 29, 86, 93, 103, 104, 105, 106, 178, 183, 190,
333, 334, 344, 345 191, 367
chest masses, 175 colonic atresias, 102
chest X-ray, 76, 90, 94, 149, 270 colorectal cancer, 304
Chicago, 179 colostomy, 178, 182, 189, 190
child abuse, xvi, 349, 360, 381 coma, 374
childhood, xi, xvi, 23, 25, 35, 44, 45, 81, 94, 106, common bile duct, 156, 158, 163, 164, 168
112, 121, 133, 134, 154, 160, 161, 172, 179, 189, common biliary duct, 163
192, 214, 217, 219, 226, 276, 280, 286, 292, 294, common channel, 163, 166, 168, 182, 183, 184, 186
314, 315, 318, 319, 321, 322, 326, 327, 368 common signs, xvi, 379
childhood cancer, 294, 314 common symptoms, 130, 290, 293
cholangiocarcinoma, 164, 165 communication, 176, 182, 189, 197
cholangiogram, 164 community, 75
cholangiopathy, xiii, 155 compartment syndrome, 292, 334
cholangitis, 159, 160, 162, 167, 168 complicated forms, 38
choledochal congenital malformation, xiii, 163
Index 389
complications, xiii, 9, 16, 20, 25, 56, 75, 76, 77, 79, cortical abnormalities, 224
80, 83, 88, 99, 102, 103, 105, 125, 126, 129, 131, cortical bone, 329
132, 141, 143, 144, 145, 157, 160, 165, 166, 167, corticosteroid therapy, 292
168, 169, 194, 198, 199, 210, 211, 214, 222, 228, corticosteroids, 126, 271, 274, 292
234, 235, 237, 247, 250, 253, 254, 255, 264, 274, cosmetic, 245, 246, 253, 254
279, 281, 361 cost, xvi, 39, 59, 349, 350, 360, 368
composition, 376 cough, 15, 40, 80, 94, 139, 148, 270, 275
compressibility, 39 counseling, 70, 93, 189
compression, 89, 90, 91, 93, 113, 126, 127, 130, 133, covering, 110, 182, 184
177, 270, 273, 274, 275, 277, 278, 292, 293, 304, cranial suspensory ligament, 260, 261
316, 328, 334, 371 creatinine, 200, 234, 235, 237, 298
compression fracture, 371 cremasteric reflex, 48, 52
computed tomography scan (CT), 39, 40, 42, 59, 62, critical period, 244
91, 126, 127, 128, 129, 130, 131, 165, 166, 175, CRP, 298
176, 193, 270, 271, 273, 274, 276, 278, 281, 287, cryptorchidism, 14, 256, 260, 265, 266, 338
288, 290, 291, 292, 293, 298, 306, 313, 316, 323, C-section, 115
324, 329, 330, 341, 357, 358, 360, 368, 380 CT scan, 39, 40, 91, 126, 128, 131, 165, 166, 175,
conception, xi, 119, 206 176, 273, 288, 290, 291, 293, 298, 316, 323, 324,
condensation, 196, 260 330, 360
conference, 183, 191, 193, 276 culture, 160, 221
confidentiality, 38 cure, 41, 145, 160, 199, 223, 225, 271, 278, 291, 310
configuration, 215, 246, 248, 250 cyanosis, 270
congenital adrenal hyperplasia, 263 cycles, 289, 334
congenital heart disease, 79, 112 cyclophosphamide, 310
congenital hip dislocation, 14 cyst, 56, 62, 126, 128, 133, 156, 157, 158, 164, 165,
congenital hydroceles, 14 168, 169, 175, 176, 177, 189, 273, 274, 280, 281,
congenital malformations, xii, xiii, 109, 126, 132, 282, 309, 312, 323, 341, 345
171 cystathionine, 329
congenital mesoblastic nephroma, 324 cystectomy, 61, 317
congenital pulmonary airway malformation, xiii, 125 cystic, xiii, 14, 28, 99, 103, 125, 126, 127, 128, 129,
conjugated bilirubin, 158 131, 132, 133, 134, 135, 156, 157, 158, 163, 164,
connective tissue, 229 165, 173, 174, 175, 177, 178, 196, 198, 200, 201,
conscious sedation, 16, 51 204, 205, 206, 230, 270, 272, 275, 281, 287, 291,
consensus, 75, 95, 131, 183, 191, 199, 210, 212, 266, 309, 316, 318, 323, 334, 340
333 Cystic Fibrosis, 14, 28, 99, 103, 158
conservative approach, 61 cystic neuroblastoma, 174, 334
constipation, 39, 146, 189, 190, 304, 316, 328 cystoplasty, 236, 237
consumption, 4 cystoscopy, 232
contamination, 41, 115 cystourethrogram, 197, 218, 227
contraceptives, 310 cystourethrography, 226
contrast-enhanced ultrasound, 59, 63 cytology, 306, 310
control group, 191, 244 cytomegalovirus, 135
controlled trials, 142 cytometry, 332
controversial, xiii, 19, 42, 61, 80, 115, 125, 140, 141, cytoplasm, 299
144, 182, 190, 199, 210, 261, 278, 294, 311
contusion, 371
cooling, 73 D
coordination, 374
database, 35, 52
copolymer, 87, 223, 228
deaths, 334
coprolith, 38, 39, 41
decay, 235
copulation, 245
defecation, xiv, 24, 181, 182
coronary arteries, 129
defects, xiv, 10, 14, 24, 94, 118, 120, 121, 172, 174,
cortex, 219, 275
181, 182, 183, 188, 189, 190, 205
390 Index
deficiency, 245, 286, 290, 353 duodenal atresia, 70, 97, 98, 99, 105
deficit, 158 duodenoplasty, 99
degradation, 191 duodenostomy, 167
dehiscence, 253 duodenum, 6, 9, 99, 158, 159, 367
dehydration, 5, 7, 29, 115 duplication of the bowel, 28
delirium, 165 duplications of the colon and rectum, 178
Denys-Drash Syndrome, 322 duplications of the small intestine, 177
Department of Justice, 377 durability, 223, 249
deposition, 264, 341 dysphagia, 139, 143, 145, 147, 148, 153, 175
depth, 352, 374 dysphasia, xiii, 147
dermoid cyst, 306, 312, 343 dysplasia, 188, 196, 198, 200, 205, 210, 217, 230,
destruction, 156 237, 323
detection, 53, 56, 70, 98, 99, 119, 133, 145, 200, dyspnea, 80, 131, 270, 275
203, 216, 218, 219, 226, 238, 290 dysuria, 304
developed countries, xi, 37, 67, 113
developmental disorder, 98
deviation, 224, 352 E
diabetes, 103
ecchymosis, 328
diagnostic criteria, 6
echocardiography, 70, 73, 187
dialysis, 14, 24
echo-enhancing contrast agents, 219
diaphragm, xv, 93, 176, 269, 274, 280, 310, 329
ectoderm, 172, 272, 281, 311
diaphragmatic hernia, xii, xiii, 89, 91, 94, 95, 96, 137
ectopic testes, 260
diarrhea, 29, 41, 144, 275
edema, 17, 28, 49, 57, 59, 158, 273, 293
diastolic pressure, 353
education, xiv, 181, 191, 236
diet, 143
effusion, 205, 275
differential diagnosis, 41, 52, 129, 174, 175, 274
electrocautery, 264
digestion, xii, 97, 261
electrolyte, 7, 100, 234, 235, 263
dilation, xiv, 87, 99, 100, 142, 163, 165, 166, 200,
elongation, 76, 85, 261
203, 205, 206, 210, 211, 216, 220, 230, 231, 232,
embolization, 129, 134, 292, 294
235, 236, 255, 256, 291
embryogenesis, 68, 182
diploid, 331, 332
embryology, 23, 68, 81, 118, 121, 172, 182, 183,
disability, xiv, 181, 357, 379
192, 260, 265, 311
discomfort, 15, 32, 129, 131
emergency, xi, xii, 7, 15, 17, 27, 35, 37, 40, 43, 47,
discontinuity, 67, 68
52, 55, 62, 101, 126, 155, 165, 186, 187, 229,
dislocation, 14
368, 369, 370, 371
disorders of sexual differentiation, 262
emission, 104, 226
displacement, 58, 313
emphysema, xiii, 125, 126, 130, 131, 134, 135, 274,
distress, xiii, 71, 91, 125, 126, 130, 131, 175, 176,
368
232, 270, 272, 273, 275, 293
empyema, 74, 275
distribution, xii, 29, 47, 55, 274, 314, 327, 337
endocrine, 243, 244, 256, 308, 309, 311
diuretic, 207, 209, 212, 213
endoderm, 172, 272, 281, 311
DNA, 294, 331, 332, 333
endoluminal balloon, 212
DNA ploidy, 331, 332
endoscope, 150, 153, 234
dopamine, 329
endoscopic injection, 215, 223, 228
doppler ultrasonography, 50, 53
endoscopy, 5, 11, 77, 81, 140, 141, 150, 151, 153,
double bubble sign, 98
154
Down syndrome, 99, 188
endotracheal intubation, 17, 352
drainage, 18, 43, 45, 76, 77, 126, 159, 160, 167, 209,
enemas, 116, 190, 191
210, 211, 212, 233, 234, 254, 290, 353, 361
energy, 350
drawing, 28
England, 162, 169
dressings, 24, 254
enlargement, 15, 56, 57, 206, 261, 271, 287, 305
drugs, 141, 196, 316
ENS, 100
dumping, 144
enteric nervous system, 100, 104, 106
Index 391
entrapment, 19 exclusion, 126, 132, 167, 218, 226, 243

environment, 256, 261, 357 excretion, 158, 212, 330
environmental factors, 4, 82, 196, 243 exercise, 96
environmental influences, 148 exercise performance, 96
enzyme, 107, 244 exposure, 4, 5, 32, 50, 68, 92, 118, 132, 139, 142,
epidemiology, 3, 11, 13, 35, 52, 55, 112, 118, 119, 177, 178, 196, 218, 219, 221, 244, 245, 256, 306,
148, 156, 161, 172, 182, 192, 216, 256, 265, 285, 323, 357, 360
294, 304, 314, 322, 337, 350 expressivity, 189
epidermoid cyst, 341, 345 exstrophy, 114, 183, 184
epididymis, 48, 49, 260, 261 external oblique, 18, 260, 342
epididymitis, 52, 339 extra hepatic cholestasis, 158
epigastrium, 5 extracellular matrix, 196
epinephrine, 254 extrahepatic biliary duct, xiii, 163, 166, 167
epithelial ovarian cancer, 306 extravaginal torsion, xii, 47, 48
epithelial tumors, 305, 310, 311 extravasation, 210, 256
epithelium, 98, 172, 249, 252, 280 extravesical, 222, 227
Epstein-Barr virus, 119, 298 extrusion, 109
equipment, 104, 132, 143, 351 eye movement, 328
ERD, 80
erosion, 275
erythromycin, 4, 142, 145 F
esophageal achalasia, 148, 152, 153, 154
failure to thrive, 139, 142, 328
esophageal atresia, xiii, 70, 77, 81, 82, 83, 84, 85, 86,
false negative, 262
87, 88, 96, 99, 137, 182, 188
false positive, xii, 37
esophageal barium swallow, 149
families, 132, 286, 350
esophageal cancer, 80
family history, 4, 262
esophageal clearance, 139
fascia, xi, 13, 18, 23, 51, 255, 260, 264, 313
esophageal dilatation, 149, 151
fasting, 75, 158
esophageal duplications, 176
fat, 4, 18, 39, 42, 374
esophageal manometry, 138, 140, 147, 150, 153
FDA, 222, 223
esophageal rupture, 133
FDA approval, 223
esophageal varices, 160
fear, 61
esophagitis, xiii, 80, 137, 140, 141, 142, 150
feeding intolerance, 56
esophagogram, 76, 77
female rat, 314
esophagus, xiii, xv, 68, 75, 80, 88, 91, 137, 138, 139,
femoral hernia, xi, 13, 21
140, 141, 142, 143, 147, 148, 149, 150, 151, 153,
femur, 353, 380
176, 269, 270, 280
ferritin, 276, 329
ESRD, xiv, 195
fertility, 20, 191, 259, 310
estrogen, 305
fertility rate, 191
ethylene, 222
fertilization, 310
etiology, 35, 49, 68, 82, 89, 95, 118, 156, 229, 244,
fetal abnormalities, 165
245, 260, 322, 353, 380
fetal demise, 101, 272
Europe, xiii, xiv, 95, 156, 192, 203, 212, 324
fetal distress, 90, 101
European Parliament, 182
fetal growth, 113, 261
evacuation, 103
fetal MRI, 70, 82, 120, 174, 204, 327
everyday life, xiv, 181
fetal reflux nephropathy, 217
evolution, 7, 37, 38, 42, 93, 94, 102, 103, 126, 128,
fetus, xii, 82, 97, 203, 260, 261, 270
129, 130, 131, 165, 167, 182, 206, 210, 237, 345
fever, 29, 40, 41, 56, 160, 221, 323, 328
examinations, 40, 43, 70, 101, 314, 357
fibers, 18, 48, 236, 261, 342
excision, xiii, 19, 104, 125, 167, 168, 169, 176, 177,
fibrinogen, 38
178, 179, 199, 211, 246, 255, 256, 271, 272, 274,
fibrosis, 14, 28, 99, 158, 160, 165, 209, 230, 262
278, 279, 280, 281, 282, 289, 294, 299, 309, 314,
fibrous tissue, 159, 276
333
FIGO, 310
392 Index
filiform, 149 gastroenterologist, 190

films, 35, 358 gastroenterostomy, 7
Finland, 318 gastroesophageal reflux, 5, 10, 83, 138, 140, 144,
fistulas, 81, 87, 131, 250, 254 145, 146, 153
fixation, 47, 51, 61, 210, 219, 220, 299, 317 gastrointestinal bleeding, 176, 177
flail chest, 352 gastrointestinal tract, xiii, 4, 142, 160, 171, 172, 174
flame, 374 gastroschisis, xii, xiii, 102, 109, 110, 111, 112, 113,
flex, 5 114, 115, 116, 118, 119, 120, 121, 137
fluctuant, 16 gender identity, 246
fluid, xi, xii, 5, 7, 15, 16, 18, 29, 30, 31, 34, 41, 58, gene expression, 331
72, 82, 92, 100, 149, 161, 209, 234, 237, 273, general anaesthesia, 131
293, 305, 306, 352, 357, 359, 360, 367, 374, 375 general anesthesia, 25, 76, 104, 151, 263
focal nodular hyperplasia, xv, 285, 290, 293 general examination, 38
Foley catheter, 234, 254, 375 general practitioner, 44
follicle, 57, 58, 59, 262, 340 generalized peritonitis, 41
follicle stimulating hormone, 262 genes, 4, 68, 103, 304
follow up, xiii, 79, 80, 81, 85, 96, 125, 168, 189, genetic, xvi, 4, 80, 82, 91, 99, 103, 112, 118, 119,
192, 203, 321 134, 148, 189, 196, 216, 225, 243, 244, 245, 262,
food, 10, 29, 41, 102, 131, 140, 144, 148, 150 265, 303, 304, 322, 330, 331
Food and Drug Administration, 222 genetic and environmental factors, 4, 82, 196
food intake, 102, 131, 144 genetic factors, 148
football, 366 genetic marker, 80, 330
force, 34, 350, 367, 368 genetic predisposition, 244, 245, 262, 304
Ford, 84, 370 genetic syndromes, 91
formula, 120, 140, 141, 352, 375 genetics, 11, 132
Fowler–Stephen, 264, 265 genitals, 242
fractures, 350, 360, 368, 376, 380, 382 genitofemoral nerve, 261
France, xix, xx, xxi, 3, 13, 23, 27, 37, 47, 55, 67, 73, genitourinary tract, 314, 315, 316
75, 79, 89, 97, 109, 125, 137, 147, 155, 161, 163, genotype, 193
171, 181, 203, 215, 229, 259, 269, 285, 297, 303, GERD and Barrett’s Esophagus, 80
321, 337, 345 germ cell tumors, xv, 272, 282, 285, 305, 310
Fraser syndrome, 204 germ cells, 311, 337
fresh frozen plasma, 370 gestation, xii, 77, 89, 92, 97, 126, 165, 173, 196,
fruits, 244 226, 242, 260, 311, 327
full blood count, 38 gestational age, xv, 24, 96, 259, 311, 322
functional cysts, 56 gestational diabetes, 196
fusion, 14, 75, 89 gland, 271
glansplasty, 246, 247
glial cells, 100
G global management, 81
global scale, 350
gadolinium, 209
glucose, 73
gallbladder, 157, 158, 159
glycogen, 286
ganglion, 48, 104, 148, 328
glycosylation, 196, 200
ganglioneuroma, 276
glypican 3, 287
gangrene, 16
gonadal dysgenesis, 262, 338
gangrene of bowel, 16
gonadoblastomas, 338
gangrene of the ovary and/or fallopian tube, 16
gonadotropin, 244, 263, 266, 271, 272, 305, 310, 340
gastric lavage, 7
grades, 149, 206, 220, 223, 224
gastric mucosa, 175, 176, 177
grading, 208, 212, 217, 218, 226
gastritis, 4
gradual traction, 264
gastro esophageal reflux, 76
granulomas, 222
gastro-duodenal duplications, 177
granulosa cell tumor, 305, 310, 338
gastroenteritis, 28, 39
Index 393
gravity, 139, 236 hepatic failure, 156

Grawitz Tumor, 324 hepatic fibrosis, 165, 290
grouping, 288, 326 hepatic hemangioma, 291, 292, 294
growth, 76, 80, 83, 85, 92, 94, 96, 104, 106, 113, hepatic injury, 361
116, 119, 127, 131, 139, 142, 189, 220, 260, 261, hepatic sarcoma, 291
279, 290, 350 hepatitis, 161
growth factor, 92, 106 hepatobiliary scintigraphy, 162
growth rate, 139 hepatoblastoma, xv, 285, 286, 287, 288, 294
gubernacular development, 261 hepatocellular adenoma, 293
gubernaculum, 260, 261, 262, 263, 264, 342 hepatocellular carcinoma, xv, 285, 289, 290, 291
guidance, 31, 278, 369 hepatomegaly, 292, 334
guidelines, 21, 61, 144, 145, 153, 210, 219, 220, 224, hernia, xi, xii, xiii, 10, 13, 14, 15, 16, 17, 18, 19, 20,
226, 266, 350, 369, 377, 380, 381 21, 23, 24, 25, 26, 49, 89, 90, 91, 94, 95, 96, 111,
guilt, 246 137, 138, 139, 142, 144, 246, 262, 315, 334
hernia repair, 21, 25, 26, 90
herniated, 15, 93, 109, 110, 113, 115
H herpes, 28
herpes virus, 28
haemoptysis, 176
heterogeneity, 110, 119
haemostasis, 20, 370
hiatal hernia, xiii, 137, 138, 139, 142
hair, 98, 252
high blood pressure, 236
hamartoma, 271, 292, 293, 294, 295, 312
hirsutism, 305
HCC, 290, 291
histology, xiii, xv, xvi, 171, 271, 273, 276, 279, 285,
HCG, 244, 305, 340
288, 289, 291, 303, 306, 315, 318, 332, 333
head injury, 350, 356, 368, 381, 382
history, xiii, 4, 15, 16, 28, 38, 125, 131, 139, 140,
head trauma, 379, 381, 382
147, 165, 201, 203, 213, 224, 225, 262, 328, 330,
headache, 374
339, 358, 380, 381
healing, 132, 141, 252, 253, 256, 380
HIV, 271
health, 224, 256
Hodgkin’s Lymphoma (HL), 161, 272, 273, 297,
health risks, 224
300, 301
hearing impairment, 94
homovanillic acid (HVA), 276, 329
heart disease, 99, 369
hormone, 56, 148, 261, 262, 265, 310, 340
heart failure, 129, 134
hormones, 261, 305
heart rate, 350
hospitalization, 104
heartburn, 139, 141
host, 105
heat loss, 115, 357
human chorionic gonadotropin, 57, 244, 263, 271,
height, 31, 360
272, 305, 340
Heller myotomy, 147, 153, 154
humoral immunity, 272
hemangioma, 291, 292
Hunter, 84, 145
hematocrit, 361
hybrid, 131
hematology, 345
hybrid malformation, 131
hematoma, 25, 129, 254, 264, 361, 362, 365, 366,
hydramnios, 204, 230
367, 380
hydrocele, 16, 18, 49, 262, 315, 339
hematuria, 210, 315, 323, 360
hydrogen, 5
hemihypertrophy, 322
hydronephrosis, 197, 203, 204, 205, 206, 208, 209,
hemochromatosis, 293
212, 213, 216, 217, 219, 221, 225, 230, 231, 232,
hemodynamic instability, 361
234, 316
hemoglobin, 380
hydrops, 90, 126, 132, 133, 270, 272, 280, 311
hemoptysis, 128, 270
hydrostatic reduction, 27, 31, 32, 33
hemorrhage, 271, 274, 276, 287, 291, 304, 309, 316,
hyperacidity, 4
323, 328, 350, 353, 357, 361, 370, 371, 380
hyperbaric oxygen therapy, 63
hemostasis, 350
hypercalcemia, 328
hemothorax, 134, 352, 368
hypercalciuria, 103
Henoch-Schonlein purpura, 28, 49
394 Index
hyperplasia, xv, 28, 104, 134, 271, 285, 290, 293, incarcerated hernia, 17, 20
295 incarcerated inguinal hernia, 15
hypersialorrhea, 71 incarceration, 16, 24
hypertension, 89, 92, 103, 104, 157, 160, 164, 165, incidence, xii, xiv, xv, 3, 10, 13, 14, 16, 24, 44, 47,
195, 197, 198, 199, 200, 219, 275, 293, 323, 328 52, 55, 56, 83, 87, 99, 102, 104, 120, 128, 131,
hypertrophic pyloric stenosis, xi, 3, 10, 11, 177 144, 148, 154, 156, 168, 169, 172, 195, 198, 216,
hypertrophy, xi, 3, 4, 11, 112, 197, 230, 235, 272 221, 225, 242, 243, 244, 246, 250, 255, 259, 280,
hypo fertility or infertility, 20 286, 290, 294, 304, 311, 314, 322, 327, 334, 337,
hypochloremic metabolic alkalosis, 5 345, 379
hypoechoic cysts, 197 incomplete myotomy, 10
hypoglycemia, 112, 322 incongruity, 276
hypokalemia, 5 indirect inguinal hernia, 13, 14
hyponatremia, 5 individuality, 224
hypoplasia, 89, 91, 92, 93, 94, 116, 119, 126, 158, individuals, 138, 217, 273
219, 232 induction, 8, 41, 85, 196, 256, 352
hypospadias, 188, 241, 242, 243, 244, 245, 246, 247, infancy, 24, 25, 81, 88, 106, 112, 161, 206, 247, 266,
249, 250, 252, 253, 254, 255, 256, 257 271, 327, 331
hypotension, 31, 350, 352, 353, 361 infants, xi, xii, xvi, 5, 11, 13, 16, 17, 18, 23, 24, 25,
hypotensive, 350 27, 34, 35, 47, 55, 56, 81, 83, 84, 87, 93, 95, 96,
hypothermia, 353, 357, 370, 376 107, 118, 120, 121, 130, 132, 133, 134, 135, 140,
hypothesis, 98, 322 141, 142, 143, 144, 145, 148, 155, 177, 200, 212,
hypothyroidism, 24, 292 213, 214, 216, 217, 226, 227, 238, 254, 265, 270,
hypovolemia, 287, 353 292, 293, 311, 312, 313, 318, 319, 321, 328, 329,
hypovolemic shock, 350 331, 334, 340, 345, 353, 357, 369, 382
hypoxia, 92, 161, 172 infarction, 16, 20, 48, 56, 91, 101
hysterectomy, 310, 317 infarction of the testis, 16, 20
infection, xiv, 16, 20, 25, 38, 41, 56, 94, 128, 129,
130, 131, 135, 161, 167, 175, 197, 198, 211, 215,
I 217, 219, 221, 226, 233, 234, 237, 271, 274, 290,
328
iatrogenic, 20
infection of cysts, 197
ideal, 92, 189, 218, 253
infection of the urinary tract, xiv, 215
identification, xvi, 34, 73, 139, 193, 203, 204, 224,
infectious disorders, 290
274, 303, 382
inferior vena cava, 292, 293, 324, 334
idiopathic, 28
infertility, 16, 20, 244
ileocolic, xi, 27
inflammation, 103, 104, 128, 133, 139, 256, 274,
ileo-ileal, xi, 27
281, 329
ileum, 32, 33, 106, 177, 280
inguinal, xi, 13, 14, 15, 16, 17, 18, 19, 20, 21, 48, 52,
iliac crest, 353
260, 261, 262, 263, 265, 315, 318, 342
illumination, 16
inguinal canal, 15, 52, 260, 262, 263, 315
illusion, 248
inguinal hernia, 13, 14, 15, 16, 19, 20, 21, 246, 262
imagery, 271
inguinal orchidopexy, 263
imaging modalities, 200
inheritance, 188, 189, 216, 244
imaging-derived risk factors, 276
inhibin B, 57
immobilization, 357
inhibition, 196
immune system, 271
inhibitor, 145, 244
immunodeficiency, 105, 271
initiation, 224
immunoglobulin, 299
injections, 223
immunohistochemistry, 107
injure, 205
immunoreactivity, 292
injury, xi, xii, xvi, 9, 18, 20, 25, 34, 55, 99, 110, 115,
imperforate anus, 193, 246
116, 139, 223, 236, 264, 314, 349, 350, 357, 358,
implants, 306
360, 361, 362, 363, 364, 366, 367, 368, 370, 371,
in utero, 56, 92, 120, 132, 196, 204, 236, 270, 280,
373, 374, 375, 376, 379, 380, 381, 382
281
Index 395
insertion, 183, 185, 186, 191, 214, 352, 353, 358 ischemia, 28, 33, 34, 48, 94, 99, 102, 113, 156, 198,
Inspissated bile syndrome, 158 264, 367
institutions, 16 Islam, 154
insulin, 261, 262, 265 isolation, xiv, 181, 192, 368
insulin-like factor 3, 261 isosexual precocity, 286, 305
integrity, 281 isotope, 207, 219, 220, 329
intensive care unit, 72, 76, 92, 142 Israel, 52
interferon, 274
intermittent abdominal pain, 29, 293
intermittent testicular pain, 48 J
internal inguinal ring, xi, 13, 18, 19
Japan, 282
International Classification of Diseases, 318
jaundice, 4, 155, 157, 158, 160, 161, 162, 165, 291,
International Federation of Gynecology and
293
Obstetrics (FIGO), 306
jejunum, 86, 280, 367
International Neuroblastoma Risk Group Staging
joint pain, 328
System (INRGSS), 276, 277
International Neuroblastoma Staging System (INSS),
276, 277, 282, 331 K
intervention, xii, xiv, 11, 73, 75, 92, 94, 97, 104,
126, 130, 132, 181, 232, 246, 260, 334, 353, 360, K+, 141
361, 367 Kabuki syndrome, 204
intestinal abnormalities, 172 karyotype, 70, 73, 99, 112, 197, 263
intestinal duplications, xiii, 171, 179 karyotyping, 91, 113
intestinal dysmotility, 99 Kasai, 155, 159, 161, 162
intestinal malrotation, 106, 178 kidney, xiv, 30, 93, 188, 195, 197, 198, 199, 200,
intestinal obstruction, 16, 20, 99, 103, 104, 107 201, 204, 205, 206, 207, 210, 211, 217, 235, 236,
intestinal occlusion, 27, 39, 97, 171 237, 323, 324, 350, 360, 365
intestinal perforation, 15, 29, 31, 94 kidney failure, 236, 237
intestinal tract, 172, 179, 316 kinetics, 353
intestine, xi, 14, 15, 24, 27, 28, 33, 34, 101, 106, knots, 74
113, 158, 159, 172, 175, 177, 178 Korea, 344, 345
intraabdominal abscess formation, 16
intra-abdominal pressure, 13, 15, 261, 265
intramural tunnel length, 215 L
intrapulmonary shunts, 161
intraspinal extension, 275, 276 labeling, xiv, 181
intravaginal torsion, xii, 47, 48 laboratory evaluation, 262
intravenous fluids, 33 laboratory tests, xv, 42, 165, 168, 275, 276, 297
intravesical, 221, 222 laceration, 362, 365
intussusception, xi, 27, 28, 30, 32, 33, 34, 35, 99, lack of control, 190
177, 298 lactic dehydrogenase (LDH), 290, 298, 305, 329
invaginate, 25 laminectomy, 281
inversion, 101 landscape, 223
involution, 197, 199, 200 laparoscope, 19
ionizing radiation, 5, 50, 276 laparoscopic approach, 8, 41, 143, 167, 222
ions, 5 laparoscopic Lich-Gregoir reimplantation, 222
ipsilateral, 89, 177, 198, 206, 210, 263, 264, 275 Laparoscopic Nissen Fundoplication, 143
Ireland, 222 laparoscopy, 9, 34, 37, 41, 59, 189, 190, 191, 263,
iris, 328 264, 309
irradiation, 7, 131, 150, 299 laparotomy, 33, 34, 41, 92, 159, 189, 309
irreducible inguinal, 15 lead, xiii, xiv, 3, 4, 5, 14, 28, 30, 33, 56, 59, 61, 80,
irritability, 139 101, 103, 113, 115, 116, 126, 127, 139, 155, 165,
177, 181, 189, 191, 192, 221, 236, 245, 257, 270,
275, 276, 328, 334
396 Index
leakage, 76, 77, 86, 159, 161, 167 lying, 5, 189

learning, xvi, xvii, 75, 84, 94, 210, 379 lymph, xv, 269, 271, 272, 273, 275, 279, 287, 299,
learning difficulties, 94 310, 316, 317, 325
left aortic arch, 135 lymph node, 271, 272, 273, 275, 279, 287, 299, 310,
left atrium, 133 317, 325
legal issues, 351 lymphadenopathy, 316
legs, 5 lymphangioma, 129, 282
lesions, xiii, xvi, 42, 125, 126, 128, 130, 131, 132, lymphangiomas, 274, 282
133, 135, 141, 171, 172, 176, 177, 178, 235, 236, lymphoid, 298
237, 270, 279, 280, 290, 291, 292, 293, 294, 298, lymphoid hyperplasia, 28
303, 306, 307, 308, 309, 310, 311, 313, 315, 316, lymphoid tissue, 298
317, 318, 327, 331, 334, 340 lymphoma, 270, 271, 272, 273, 297, 298, 299, 300,
lethargy, 33 314
leukocytosis, 29, 57 lymphomas, 28, 270, 272, 299, 301
leukopenia, 328 lysis, 298
levator, 183, 185, 186, 313
level of education, 191
leydig cell tumor, 310, 338 M
leydig cells, 262
Mac Burney, 41, 43
Lich-Gregoir Technique, 222
macroglossia, 112, 322
lifetime, 168
macrophages, 299
ligament, xi, 13, 15, 23, 56, 260, 261, 265, 367
macrosomia, 112
light, 40, 299, 360
MAG3 Renography, 207
lipoma, 188, 189
magnetic resonance imaging (MRI), 30, 40, 44, 50,
liver, xiii, xv, 5, 90, 93, 94, 96, 99, 107, 109, 110,
52, 59, 62, 70, 82, 90, 96, 113, 119, 120, 126,
112, 142, 155, 156, 157, 158, 159, 160, 161, 165,
131, 174, 186, 187, 188, 193, 204, 209, 210, 262,
167, 168, 169, 273, 275, 285, 286, 287, 288, 289,
270, 276, 281, 287, 290, 291, 292, 293, 306, 313,
290, 291, 292, 293, 294, 295, 298, 310, 323, 324,
316, 323, 327, 329
328, 350, 360, 362, 363, 364, 367, 371
MAGPI, 247, 248, 254, 256
liver biopsy, 158, 159, 160, 165, 167
malabsorption, 116, 160
liver damage, 167
malignancy, 61, 132, 133, 195, 259, 271, 274, 290,
liver disease, 99, 275
297, 304, 306, 309, 311, 314, 327, 328, 329, 341,
liver failure, xiii, 155, 158, 159, 160
360
liver function tests, 360
malignancy risk, 195, 259
liver transplant, 155, 156, 159, 160, 161, 289, 292
malignant degeneration, 128, 178, 260
liver transplantation, 155, 160, 161, 289, 292
malignant germ cell tumors, 272, 345
lobectomy, 135, 274, 289
malignant tumors, xvi, 306, 318, 321
localized volvulus, 175, 177
malnutrition, 20, 157, 160
loci, 4, 216, 299
manipulation, xii, 97, 222
loss of appetite, 38, 40
manual detorsion, 51
loss of weight, 148
mapping, 314
low birthweight, 24
marrow, 273, 298, 299, 330
low risk, 199, 288, 333, 360, 370
mass, xv, 5, 15, 17, 29, 38, 43, 44, 45, 56, 57, 59,
lower esophageal sphincter, 138, 148, 150
126, 165, 171, 174, 175, 177, 183, 189, 197, 199,
lower respiratory tract infection, 80
270, 271, 272, 274, 281, 282, 287, 290, 291, 292,
lower urinary tract obstruction, xiv, 229
293, 297, 298, 304, 306, 311, 312, 313, 316, 322,
lumbar spine, 367
323, 327, 328, 329, 334, 337, 338, 339, 340, 341,
lumen, 7, 67, 68, 74, 132, 149, 173, 177, 280, 291,
342
315
maternal smoking, 119
lung disease, xiii, 13, 94, 95, 125, 132, 133
Mathieu procedure, 249, 250, 255
lung function, 279
Mature Cystic Teratomas, 309
Luo, 62
McCune-Albright syndrome, 57, 304
luteinizing hormone, 262, 340
mechanical ventilation, 75
Index 397
meconium, 97, 102, 103, 104, 106, 107, 156, 157, mortality, 90, 95, 96, 102, 103, 105, 106, 107, 232,
174, 185 236, 350, 353, 368, 369, 370, 379, 381
meconium plug, 97, 102, 103, 106 mortality rate, 103, 350, 368, 379, 381
median, 55, 57, 76, 79, 80, 92, 93, 117, 242, 286, Moses, 265
327 motility disorder, xiii, 99, 147
mediastinal masses, xv, 269, 270, 271 MRI Urography, 209
mediastinum, xv, 74, 126, 149, 269, 270, 271, 272, MTP, 353
273, 274, 275, 280, 281, 282, 311, 327, 328 mucosa, xi, 3, 9, 74, 80, 139, 141, 152, 153, 172,
medical care, xiv, 181, 380 174, 175, 176, 178, 222, 252, 273, 280, 281, 311
medical history, 358, 380, 381 mucosal perforation, 152, 153
medical treatment, 42, 43, 81, 141, 227, 235 mucus, 28, 29
medication, 4, 76 Muir-Torre Syndrome, 304
medicine, xiv, 35, 40, 52, 62, 63, 179, 201, 203, 368, multivariate analysis, 238
369, 370, 371, 382 muscle mass, 5
medulla, 327 muscles, 100, 152, 184, 186, 190, 260, 313
megaureter, 203, 205, 210, 211, 212, 214 musculoskeletal, 188
meiosis, 275 mutation, 4, 128, 148, 189,193, 244
melanoma, 28 MYCN, 330, 331, 332, 333
membranes, 92 myelomeningocele, 246, 281
memory, 374 myocardium, 127
meninges, 189 myoclonus, 275
meningitis, 189, 281 myopathy, 4
mental retardation, 292
mesenchymal hamartoma, 292, 293, 294, 295
mesenchyme, 196, 260, 261 N
mesenteric vessels, 101, 177
nares, 71
mesentery, 28, 111, 113, 178, 311
nasogastric tube, 7, 8, 9, 31, 34, 76, 159, 167, 358
mesoderm, 272, 311
natural history, xiii, 28, 125, 131, 201, 203, 213, 225,
meta-analysis, 43, 45, 76, 86, 95, 107, 132, 191, 192,
330
206, 212, 369
nausea, 20, 40, 48, 56, 175, 290, 298, 304, 374
Metabolic, 160
necrosis, 15, 28, 33, 34, 56, 57, 101, 106, 116, 291,
metabolic alkalosis, 3, 5
294, 312, 323, 367
metamorphosis, 294
neglect, 381, 382
metastases to the liver, 277, 331
neonatal ovarian torsion, 55
metastasis, 275, 278, 303, 317, 323, 324, 328, 329
neonates, xv, 4, 13, 18, 56, 59, 75, 84, 99, 102, 106,
metastatic disease, 288, 289, 291, 314, 315, 328,
107, 120, 126, 214, 219, 226, 259, 287, 311, 334
329, 331, 333, 341
neoplasms, 45, 56, 61, 287, 299, 304, 305, 317, 318,
mice, 68
328
microscope, 253
neoplastic tissue, 287
middle mediastinum, 273
neovascularization, 252
midgut volvulus, 97, 101, 106
nephrectomy, 198, 199, 200, 323, 325, 326
migration, 40, 165, 222, 261
nephroblastoma, 322, 323, 324
miniaturization, 132
nephrologist, 199
miosis, 328
nephron, 196, 326
models, 68, 103, 221, 244
nephropathy, xiv, 217, 322
modifications, 162, 253
nephrosis, 236
monozygotic twins, 244
nephrotic syndrome, 38
Moon, 35, 135
nerve, 17, 18, 104, 151, 190, 261, 264, 328
morbidity, xiii, xiv, 80, 81, 94, 96, 106, 116, 117,
nerve fibers, 104
125, 129, 131, 132, 199, 204, 210, 215, 220, 221,
nervous system, 100, 104, 106, 148, 327
222, 223, 224, 246, 278, 331, 350, 353, 381
neural connection, 281
Morgani-Larrey hernia, xii, 89
neural crest cells, 327, 329
morphology, 48, 149, 262
neurenteric cysts (meningocele), 189, 281, 312
398 Index
neurilemmoma (schwannoma), 280 obstructive uropathy, 235, 316

neuroblastoma, xvi, 129, 174, 275, 276, 277, 278, occlusion, xii, 27, 39, 42, 95, 96, 97, 101, 102, 103,
279, 280, 282, 283, 314, 321, 324, 327, 328, 329, 104, 133, 171
330, 331, 332, 333, 334, 335 oedema, 15, 20
neuroblasts, 327, 330, 333 oesophageal, 81, 82, 83, 85, 87, 126, 145, 147
neurodegenerative process, 148 olive palpation, 5
neurofibroma, 280 omentum, 9, 10, 19, 24, 41
neurofibrosarcoma, 280, 283 omeprazole, 141
neurogenic bladder, 191, 216 omphaloceles, xii, 109, 110, 112, 113, 115, 116, 117,
neurologic symptom, 328, 380 120
neuromotor, 94 onlay island flap, 250, 251, 257
neurons, 100, 148 oophorectomy, 63, 310
neuron-specific enolase (NSE), 276, 329 opacification, 158, 159
neuropathy, 189 open approach, 167, 279
neurosurgery, 382 open surgery, 92, 93, 143, 144, 167
neurotransmitter, 148 operations, 143
neurotrophic factors, 100 operative treatment, 45, 264, 326, 327
neutrophils, 330 opioids, 376
nevus, 304 opsomyoclonus, 328
New England, 62, 369 oral antibiotic, 42
Nissen Fundoplication, 142, 143, 145 orbit, 275, 318, 328
nitrates, 150 orchidectomy, 51
nitric oxide, 4, 11, 92, 148 orchidopexy, 262, 263, 264, 265
nitric oxide synthase, 4, 11 orchitis, 49, 339
nitrous oxide, 38 organs, 56, 59, 93, 204, 272, 273, 304, 306, 317,
N-myc, 276, 278, 330, 334 323, 329, 350, 357, 360, 370
nodal involvement, 288 orthoplasty, 246
nodes, 273, 300, 317, 323, 324 orthopnea, 270
nodules, 328, 331 ospso myoclonus syndrome, 275
non palpable, 266 osteolytic images, 275
nonbilious, 4 osteomalacia, 160
nonbilous vomiting, 3 outpatient, 254
non-Hodgkin’s lymphoma (NHL), 272, 273, 297, ovarian cancer, 304
298 ovarian cysts, 56, 59, 60, 62, 174, 305, 306, 309
nonsurgical management, 199 ovarian fixation, 61
normal children, 216 ovarian torsion, xii, 55, 56, 57, 58, 59, 61, 62, 63,
North America, xiii, 92, 144, 145, 156, 163, 278 306
notochord, 68, 82, 172, 179, 281 ovarian tumors, xvi, 303, 304, 305, 306, 318
nuclei, 299 ovaries, 56, 61, 305, 318
nursing, 103, 104 overproduction, 292
nutrition, xii, 4, 7, 76, 97, 99, 103, 105, 116, 154, overweight, 141
159 ox, 352
nystagmus, 328 oxygen, xvi, 94, 349, 351, 352, 357
O P
obesity, 44 pain, 10, 15, 29, 33, 37, 38, 39, 40, 41, 43, 44, 47,
obstruction, xi, xii, xiv, 3, 16, 17, 20, 29, 56, 92, 94, 48, 51, 52, 55, 56, 57, 59, 62, 75, 101, 132, 139,
97, 98, 99, 100, 101, 102, 103, 104, 105, 107, 142, 143, 161, 165, 171, 175, 177, 222, 270, 275,
139, 144, 165, 167, 175, 177, 196, 198, 200, 203, 281, 290, 293, 297, 298, 303, 304, 323, 328, 337,
204, 205, 206, 207, 209, 210, 211, 212, 213, 218, 356, 360, 367
222, 229, 230, 235, 236, 237, 256, 270, 298, 315, painless swelling, 16, 315
351, 365 pallor, 38
Index 399
palpable, 5, 11, 15, 165, 175, 260, 263, 264, 265, peristalsis, xi, xii, 27, 28, 97, 99, 100, 142, 147, 149,
271, 273 150, 174
palpation, 5, 15, 38, 40, 57, 328, 358, 368 peritoneal cavity, 15, 17, 25, 30, 261
pancreas, 99, 167, 175, 360, 361 peritoneal irritation (Blumberg sign), 38, 42
pancreatic reflux, 163 peritoneum, 24, 142, 260
pancreaticobiliary common channel, 164 peritonitis, 16, 17, 31, 33, 39, 41, 56, 165, 361, 367
pancreatitis, 165, 168, 177 permeability, 71, 99, 100, 102
panda eyes, 275, 328 permeation, 182
parallel, 92, 140, 249 permit, 224, 277, 357
paralysis, 73, 83, 84, 328 peroral endoscopic myotomy, 153, 154
paraneoplastic syndrome, 315 petechiae, 380
paratesticular RMS, 315, 318 Peutz-Jeghers syndrome, 304
parenchyma, 92, 126, 129, 130, 197, 204, 205, 206, pH, 81, 87, 94, 140, 141, 145
230, 237, 273, 292, 322, 323, 340 pH monitoring, 140, 141, 145
parents, 4, 38, 104, 190, 199, 200, 209, 224, 236, phalanx, 352
287, 322 pharmaceuticals, 244
paresis, 75, 76, 84 pharynx, 68
paresthesias, 328 phenotype, 193, 242, 333
parity, 245 pheochromocytoma, 276, 280
partial thromboplastin time, 353 Philadelphia, 11, 92, 161, 193, 201, 256, 282, 294,
pathogenesis, 4, 11, 95, 118, 227 301, 319
pathology, xiv, xvii, 59, 115, 156, 181, 191, 215, phlegmon, 39, 42, 45
237, 289, 306, 319, 326, 352 phosphorus, 298
pathophysiological, 4, 144 physical abuse, 380, 382
pathophysiology, xi, 56, 140, 145, 238, 381 physical examination, 15, 29, 37, 38, 42, 57, 139,
patient care, 153 140, 175, 217, 260, 262, 293, 304, 339
pediatric appendicitis score, 40, 44 physicians, xii, 55, 203, 246
pediatrician, 190, 287 physiology, 101, 191, 350
pelvic floor, 190 physiopathology, 95
pelvic pain, 56, 57, 59, 304 pineal gland, 311
pelvic tumors, xvi, 303, 311 placenta, 118, 244, 295, 311
pelvic ultrasound, 263, 309 plain X ray, 71
pelvis, 206, 209, 210, 216, 225, 306, 311, 313, 327, platelets, 353, 369
341, 357 platinum, 310
penetrance, 189, 216 playing, 15
penis, xv, 185, 241, 242, 246, 248, 252, 253, 254, pleura, xv, 128, 269, 270, 276
255, 262 pleural effusion, 126, 275
peptic ulcer, 177 plexus, 100, 104, 148, 328
peptide, 261 PLUG, 92, 93
percentile, 94 PM, 281, 282, 294
perforated appendicitis, 41, 45 pneumonia, 38, 139, 148, 175, 274
perforation, 9, 10, 15, 16, 28, 29, 31, 33, 34, 43, 94, pneumothorax, 76, 128, 131, 274, 352, 368
102, 103, 107, 151, 152, 153, 165, 167, 169, 175, polycystic kidney disease, xiv, 195
177, 230, 298, 359, 367 polydactyly, 188
perforation of bowel, 16 polydimethylsiloxane, 228
perfusion, 50, 59, 161 polyhydramnios, 70, 82, 90, 98, 99, 125, 292, 311
pericardial sac, xv, 269 polymorphism, 11, 196
pericardium, xv, 77, 269, 270 polypropylene, 253
perinatal, 48, 56, 82, 94, 119, 120, 121, 133, 232, polyuria, 235, 236
293 population, xv, xvi, 11, 13, 24, 40, 41, 57, 68, 75, 80,
perineum, xv, 182, 184, 241, 242, 262, 315, 376 88, 95, 101, 105, 133, 148, 156, 161, 167, 168,
peripheral blood, 279, 330 191, 198, 210, 224, 235, 244, 262, 280, 285, 286,
297, 303, 324, 381
400 Index
portal hypertension, 157, 160, 164, 165 proliferation, 158, 272, 299
portal vein, 156, 367 promoter, 11
posterior mediastinum, 270, 280 prophylactic, 199, 221
posterior urethral valves, 205, 216, 218, 229, 235, prophylaxis, 211, 221, 224, 227, 228
238 proptosis, 275, 328
post-natal diagnosis, 70, 91 prostatectomy, 317
postnatal exposure, 4 prosthesis, 115
post-natal presentation, 165 protection, 189, 351
potassium, 5, 7, 298 protein analysis, 38
Prader-Willi syndrome, 262 proteins, xiv, 106, 116, 195, 315
precocious puberty, 57, 272, 305, 339, 340 proteome, 209, 213
pregnancy, xiii, 4, 92, 99, 109, 113, 126, 200, 292 prothrombin, 353
premature infant, 16, 27 prothrombin time, 353
prematurity, 13, 16, 77, 92, 93, 94 proto-oncogene, 330
prenatal diagnosis, xii, 67, 70, 82, 83, 101, 105, 106, prune belly syndrome, 262, 265
107, 109, 121, 126, 132, 134, 165, 171, 173, 180, pseudocyst, 361
195, 200, 203, 210, 212, 213, 215, 229, 232, 236, psychological problems, 191
238, 270, 274, 295 psychological well-being, 351
prenatal intervention, 126, 132, 232 psychologist, xiv, 181, 190
prenatal ultrasound, 56, 119, 125, 126, 174, 204, ptosis, 275, 328
212, 213, 216, 220, 291, 292, 306 PTT, 353
Prentiss maneuver, 264 puberty, 57, 256, 260, 265
prepuce, xv, 241, 242, 248, 252 pubis, 186
prescrotal approach, 263 public health, 379
preservation, 90, 221, 309, 310, 318 pulmonary artery, 158
pressure gradient, 138 pulmonary contusion, 350, 368
preterm infants, 13, 145, 265 pulmonary hypertension, 89, 92, 293
prevalence rate, 344 pumps, 141
prevention, 221, 227 purpura, 28, 38
primary closure, 115, 120, 256 PUV section, 233, 234
primary tumor, 276, 315, 316, 317, 318, 327, 328, pyelonephritis, 217, 219, 220, 221, 227, 228
329, 332, 344 pyeloplasty, 209, 210, 213
principles, xi, xvi, 81, 92, 130, 221, 278, 349 pyloric stenosis, xi, 3, 4, 7, 10, 11, 177
probability, 224 pyloroplasty, 3, 8, 144
probe, 94, 140, 358 pylorus, xi, 3, 4, 7, 8, 9
procedure, 5, 8, 25, 32, 73, 75, 76, 92, 93, 99, 102,
119, 143, 144, 152, 153, 155, 158, 159, 167, 169,
178, 210, 222, 223, 232, 234, 246, 248, 249, 250, Q
253, 254, 255, 256, 264, 278, 293, 300, 368
quality improvement, 96
processus vaginalis, xi, 13, 16, 19, 260, 261, 262,
quality of life, 121, 191, 192, 331
263
questionnaire, 191
profit, 42, 132
progesterone, 244, 263
prognosis, xii, xiv, xv, xvi, 57, 67, 79, 89, 91, 93, R
101, 102, 113, 117, 156, 159, 179, 181, 182, 184,
186, 188, 195, 229, 232, 236, 237, 257, 272, 276, raccoon eyes, 328
279, 280, 282, 285, 291, 292, 303, 310, 311, 315, race, 24
318, 322, 324, 326, 329, 330, 331, 332, 333, 334 racial differences, 243
prognosis factors, xvi, 93, 303 radiation, 5, 32, 44, 218, 219, 300, 306, 311, 317,
progressive dysphagia, 148 323, 325, 334, 357, 360, 368
progressive reduction, 116 radiation therapy, 300, 334
pro-inflammatory, 256 radio, 279
prolapse, 191 radiography, 30, 35, 104, 145
Index 401
radiological explorations, 37, 40, 43 respiratory distress, xiii, 71, 91, 125, 126, 130, 131,
radionuclide cystography, 218 175, 176, 232, 270, 272, 273, 275, 293
radiotherapy, 272, 276, 278, 279, 291, 310, 325, 333 respiratory outcomes, 88, 96
RBC, 360 respiratory rate, 352
reactivity, 94 respiratory syncytial virus, 28, 35
reality, 53, 75, 95, 133 restitution, 190
rebound tenderness, 38 restoration, xii, 97
receptor, 107, 141, 244, 331 retardation, 113, 322
recognition, 11, 224 retractile testis, 260
reconstruction, 121, 166, 169, 253, 255, 256, 317 rhabdoid tumors, xv, 285
recovery, 10, 99, 101, 105, 116, 209, 326 rhabdomyosarcoma, 128, 133, 291, 314, 315, 316,
recreational, 367 319, 324
rectal duplications, 178 rickets, 160
rectosigmoid, 104, 105 right aortic arch, 73
rectum, 31, 32, 103, 178, 185, 186, 189, 190, 297, right ventricle, 90
312, 313 risk, xiii, xvi, 4, 5, 11, 16, 19, 31, 34, 42, 45, 52, 56,
recurrence, 20, 25, 34, 42, 45, 51, 68, 75, 92, 126, 68, 72, 73, 75, 76, 80, 86, 87, 88, 92, 94, 99, 101,
151, 176, 274, 276, 280, 313, 314 103, 104, 112, 118, 119, 120, 125, 126, 127, 128,
recurrent intussusception, 28, 33 131, 132, 133, 135, 160, 178, 187, 189, 190, 191,
recurrent TEF, 77 192, 195, 196, 198, 199, 200, 201, 204, 206, 209,
red blood cells, 353, 369 216, 220, 222, 224, 227, 234, 237, 238, 244, 246,
reducible IH, 15 257, 259, 260, 262, 274, 276, 277, 278, 279, 280,
reflux nephropathy, xiv, 215, 217, 219, 227 282, 288, 289, 292, 299, 304, 309, 322, 326, 331,
Registry, 135, 199, 370 332, 333, 334, 338, 345, 350, 361, 373, 381
regression, xiii, 125, 126, 130, 188, 199, 261, 271, risk factors, 16, 86, 92, 118, 135, 192, 227, 276, 277,
305, 334 282, 331
rehydration, 17 RNA, 299
relapses, 300 room temperature, 357
relaxation, 4, 138, 147, 148, 150, 151 root, 101, 261
relevance, 118 rotavirus, 35, 156
reliability, 35, 206 rules, 44, 332
relief, xiii, 51, 141, 147, 151
renal blastema, 322
renal failure, xiv, 5, 116, 195, 219, 230, 235, 236, S
238, 298, 322
sacrococcygeal teratoma, xvi, 303, 311, 313, 319
renal masses, 322, 328
sacrum, 182, 186, 187, 188, 189
renal scarring, 217, 219, 220, 221
safety, 93, 135, 141, 153
renal scintigraphy, 197
saliva, 71, 76, 139
renal transplantation, 229, 237, 238
salpingo-oophorectomy, 310
renin, 196, 198
sarcomas, xv, 285, 291, 319
repair, xii, 10, 16, 19, 20, 21, 24, 25, 67, 75, 76, 80,
scapula, 75
83, 84, 85, 86, 87, 88, 91, 92, 93, 94, 95, 96, 99,
scheduled laparoscopic appendectomy, 42
102, 120, 165, 177, 189, 190, 209, 210, 211, 246,
schema, 208
247, 248, 249, 251, 252, 253, 254, 255, 256, 257,
school, 24, 94
263, 339
sclerosis, 298
reparation, 73
scoliosis, 75, 94
resection, xii, xiii, 34, 61, 97, 99, 100, 101, 106, 125,
scrotal, 14, 15, 49, 52, 242, 252, 263, 264, 265, 318,
131, 132, 134, 177, 178, 180, 233, 270, 271, 274,
328, 337, 338, 339, 340, 342
279, 280, 282, 283, 288, 289, 291, 293, 294, 299,
scrotal enlargement, 15
300, 310, 314, 317, 318, 325, 328, 334
scrotal mass, 337, 338, 339, 340
residual disease, 276, 279, 288, 317
scrotum, xv, 15, 16, 20, 48, 49, 51, 52, 53, 182, 185,
resistance, 138, 150
246, 255, 259, 260, 261, 262, 263, 264, 265, 315,
respiration, 381
318, 342
402 Index
secrete, 329 smooth muscle, 4, 139, 148, 150, 151, 172, 175, 196,
secretion, 92, 100, 141, 198, 270, 275, 305, 329 280
semen, 262 smooth muscle relaxing agents, 150
seminal vesicle, 190, 232 social integration, 194
seminoma, 272, 337 social life, 190
sensation, 15, 236 society, xvi, 244, 266, 349, 350
sensitivity, 6, 30, 39, 40, 50, 57, 70, 101, 168, 204, sodium, 7, 205, 230
218, 223, 291, 357 soft tissue tumors, 319
sepsis, 28, 76, 94, 99, 232, 361 solid tumors, 334
septum, 89 solution, 132, 211, 353
septum transversum, 89 somatic fetal growth, 261
sequencing, 292 sonographic examination, 6
sequestrations, xiii, 125, 126, 128, 129 SonoVue, 59
sertoli cell tumor, 305, 338 Spain, 371
Sertoli cells, 48 spastic, 292
serum, 7, 43, 158, 175, 220, 271, 289, 292, 312, 329, spasticity, xiii, 137
340 specialists, 191
serum albumin, 158 sperm, 48, 262
serum bicarbonate, 7 spermatic vessels, 264, 265
serum ferritin, 329 spermatocele, 339
sex, xiv, 67, 104, 182, 195, 305 spermatogenesis, 262, 263, 265
sex ratio, xiv, 67, 104, 182, 195 sphincter, 144, 147, 148, 150, 151, 159, 184, 185,
sex stromal tumors, 305 186, 189, 236, 314
sexual activity, 191 spinal anesthesia, 17
sexual development, 265 spinal cord, 172, 182, 184, 186, 187, 188, 190, 270,
sexual differentiation, 260 275, 278, 328, 350, 360
sexual intercourse, 246 spinal cord compression, 270, 275, 278, 328
SGOT, 290 spinal cord injury, 350, 360
shape, 29, 149, 150, 186, 196, 197, 350 spinal malformations, 172, 179
shock, 352, 353 spindle, 149, 315
siblings, 118, 216 spine, xv, 75, 95, 264, 269, 313, 350, 351, 352, 357,
side effects, 150 358, 360
SIDS, 141 spleen, 93, 143, 156, 298, 350, 360, 361, 363, 364,
sigmoid colon, 56 371
signs, xvi, 29, 33, 34, 35, 38, 42, 57, 58, 71, 94, 101, spontaneous reduction, 28
102, 103, 113, 126, 130, 148, 174, 189, 197, 232, spontaneous resolution, 24, 224
262, 304, 306, 309, 311, 351, 352, 353, 358, 360, spontaneous rupture, 25, 293, 328
368, 375 sputum, 374
silk, 15 stabilization, 357, 358, 376
silk glove sign, 15 stage 4s, 277, 278
SIOP protocol, 325 staged procedures, 115, 252
skeletal muscle, 315 staging, 273, 276, 277, 282, 288, 299, 300, 306, 309,
skeleton, 350 310, 316, 317, 324, 325, 326, 329, 331, 332
skin, xv, xvi, 4, 15, 18, 19, 24, 25, 51, 115, 148, 172, staging systems, 288, 331, 332
182, 184, 241, 242, 245, 246, 248, 249, 251, 252, starvation, 4
253, 254, 255, 275, 277, 311, 312, 313, 328, 331, stasis, 104, 158, 167, 210, 256
341, 353, 373, 374, 375 stenosis, xi, 3, 4, 7, 10, 11, 104, 105, 158, 161, 167,
skull fracture, 380 183, 189, 191, 222, 235, 237, 245, 253, 255, 256,
sludge, 165, 166 257, 274
small bowel atresia, xii, xiii, 27, 97, 99, 102, 104, stent, 211, 214, 249, 254
137 sterile, 115
small intestine, 28, 33, 93, 104, 177, 297 sternum, xv, 269
smoking, 4, 11 steroids, 159, 292
Index 403
stethoscope, 71 survivors, 94, 96, 103

stimulation, 48, 56, 100, 139, 209, 261, 263, 314 suture, 9, 19, 51, 77, 142, 153, 178, 247, 251, 253,
stomach, xiii, 6, 7, 8, 9, 10, 31, 70, 73, 74, 90, 91, 254, 342
93, 104, 106, 137, 138, 139, 141, 142, 144, 149, Sweden, 11, 220, 318
150, 177, 280, 297, 367 swelling, 16, 19, 38, 49, 52, 178, 315, 328, 339, 376
storage, 278, 286 Switzerland, 368
strangulation, 16, 24, 99 sympathetic nervous system, 327
stratification, 35, 330, 333 symptomology, 153
stress, 92, 132 symptoms, xii, 29, 35, 38, 39, 42, 55, 56, 87, 94,
stretching, 113 102, 126, 127, 128, 129, 131, 138, 139, 140, 141,
strictures, 75, 86, 87, 140, 250, 255 142, 148, 151, 175, 177, 179, 217, 221, 224, 235,
stridor, 139, 351 262, 270, 271, 272, 274, 275, 277, 304, 312, 324,
stroma, 330, 333 328, 334, 339, 350, 360, 367, 380
stromal tumors, 338 syndrome EEC, 205
structure, 15, 85, 159, 273, 287 Syndrome of Schinzel Giedion, 205
subacute, 59, 304 synthesis, 92
subcutaneous emphysema, 368
subcutaneous tissue, 350
subgroups, 224, 273, 331 T
submucosa, 104, 153, 174, 177
T cells, 272
submucosal ureter, 215
tachycardia, 29, 350, 353, 367
substitution, 86
tachypnea, 131, 352
substrate, 244
Taiwan, 156, 161
subtraction, 52
target, 6, 29, 30, 31, 353
success rate, 32, 33, 210, 222, 223, 264
Task Force, 132
sudden infant death syndrome, 10, 141
teams, xi, xiv, 91, 92, 93, 126, 181, 190
Sun, 87
technetium, 140, 329
superior vena cava, 270
techniques, xi, 21, 34, 76, 77, 81, 85, 139, 140, 143,
superior vena cava obstruction, 270
153, 177, 191, 210, 212, 222, 232, 241, 250, 253,
supervision, 104, 376
264, 265, 287
supplementation, 160
technology, 79, 140
suprapubic, 232, 234, 254
teens, 276
surface area, 357, 374, 375, 376
teeth, 311, 313
surfactant, 92
teflon, 227
surgical emergency, 15
TEG, 353, 354, 355, 369
surgical exploration, xvi, 51, 52, 53, 159, 264, 278,
TEM, 353
297, 306
temperature, 38, 262, 353, 376
surgical intervention, 11, 56, 224, 352, 353, 357
tenderness, 15, 38, 40, 41, 42, 57, 360
surgical management, 7, 75, 162, 168, 180, 189, 190,
tension, 74, 76, 77, 79, 249, 264, 274, 352
232, 342, 345, 361
teratoma, 59, 129, 189, 271, 305, 311, 312, 319, 337,
surgical removal, 131, 317
338, 340, 341, 345
surgical resection, 34, 131, 132, 279, 291, 310, 316
terminals, 151
surgical technique, xi, 21, 168, 190, 264
testicle, 50, 51, 53, 259, 339
surgical treatment, xiv, 8, 43, 73, 80, 81, 105, 144,
testicular atrophy, 16, 20, 264, 272
146, 155, 169, 181, 199, 204, 211, 235, 246, 248,
testicular auto-transplantation, 264
266, 303
testicular cancer, 262
surveillance, 119, 131, 160, 199, 256, 260, 309
testicular examination, 38, 260
survival, xvi, 7, 79, 81, 87, 92, 93, 95, 96, 105, 116,
testicular remnant, 263
117, 126, 160, 162, 276, 278, 279, 280, 300, 303,
testicular torsion, xii, 47, 48, 49, 50, 51, 52, 53, 339
311, 315, 317, 330, 331, 332, 333, 334, 344, 360,
testicular tumors, xvi, 337, 338, 340, 344, 345
368, 370
testis, xii, xv, xvi, 16, 20, 38, 47, 48, 49, 50, 51, 52,
survival rate, xvi, 79, 81, 93, 116, 126, 160, 162,
198, 259, 260, 261, 262, 263, 264, 265, 266, 316,
276, 280, 300, 303, 315, 317, 331, 333, 334, 370
337, 338, 339, 340, 342, 344, 345
404 Index
testis-sparing surgery, 342 transplant, 156, 159, 160, 237

testosterone, 242, 244, 256, 261, 262, 263, 265, 305, transplantation, 103, 107, 219, 229, 237, 238, 264,
340 289, 291
tetanus, 358 transport, 100
tetralogy, 90, 188 trauma, xvi, 20, 172, 253, 293, 328, 329, 339, 349,
the extravaginal torsion, 48 350, 351, 352, 353, 357, 358, 360, 361, 367, 368,
the intravaginal torsion, 47 369, 370, 371, 373, 375, 379, 380, 381, 382
therapy, xvi, 41, 43, 72, 77, 95, 141, 142, 145, 204, traumatic brain injury, 380, 381, 382
224, 225, 227, 232, 263, 266, 271, 279, 289, 292, traumatic incident, 350
303, 310, 311, 317, 321, 333, 334, 370 trisomy, 24, 68, 91, 99, 112, 188, 286
thoracic duplications, 176 trisomy 18, 68, 91, 188, 286
thoracoscopic approach, 84, 130 trisomy 21, 99, 188
thoracoscopy, 73, 75, 92, 273, 281, 283 tubular, 30, 104, 173, 177, 178, 196, 207
thoracostomy, 352, 368 tubularized incised plate urethroplasty, 247, 249
thoracotomy, 73, 75, 92, 132, 135, 177, 279, 281, tumor, xv, xvi, 42, 57, 116, 189, 199, 271, 272, 274,
283, 368, 371 275, 276, 277, 278, 279, 280, 285, 287, 288, 289,
thorax, 128, 130, 132, 142, 149, 152, 368 291, 292, 293, 297, 298, 303, 304, 305, 306, 310,
thrombocytopenia, 293 311, 312, 313, 314, 316, 317, 318, 321, 322, 323,
thrombocytosis, 328 324, 325, 326, 327, 328, 329, 330, 332, 333, 334,
thrombosis, 118, 129, 370 337, 338, 340, 342, 344
thrombus, 323, 324 tumor development, 116
thymic cyst, 271, 281 tunneling, 252
thymic masses, 270, 271 twinning, 172, 178
thymolipoma, 271 twins, 178
thymoma, 271, 281 tyrosine, 106, 331
thymus, xv, 269, 271 tyrosine hydroxylase, 106
tibia, 353
tissue, xi, 13, 14, 39, 56, 61, 77, 127, 149, 172, 199,
228, 245, 248, 250, 251, 252, 253, 255, 262, 270, U
273, 274, 277, 300, 306, 309, 311, 314, 316, 317,
ultrasonography, 6, 30, 50, 53, 73, 175, 193, 206,
319, 329, 351, 374
212, 262, 271, 274, 275, 291, 293, 294, 298, 306,
top-down approach, 220
313, 323, 324, 327, 370
torsion, xii, 38, 47, 48, 49, 50, 51, 52, 55, 56, 57, 58,
ultrasound, 3, 6, 11, 16, 30, 32, 39, 42, 43, 44, 56,
59, 61, 62, 63, 263, 304, 306, 309
57, 58, 59, 61, 62, 63, 82, 91, 96, 98, 99, 101,
Toupet Fundoplication, 143, 145
113, 116, 119, 125, 126, 132, 133, 156, 157, 158,
toxicity, 209, 289, 374
161, 164, 165, 166, 168, 173, 174, 175, 179, 193,
toxin, 151
197, 199, 200, 201, 204, 206, 208, 210, 212, 213,
trachea, xv, 68, 74, 90, 127, 176, 269, 352
216, 217, 218, 219, 220, 226, 230, 232, 234, 237,
tracheoesophageal fistula, xiii, 81, 82, 83, 84, 87, 88,
263, 270, 275, 278, 287, 290, 291, 292, 309, 311,
137
314, 316, 323, 330, 340, 341, 345, 357
tracheo-esophageal fistula, 82, 84
umbilical cord, 24, 109, 111, 113
tracheoscopy, 73
umbilical hernia, xi, 23, 24, 25, 26, 111
training, xvii, 79, 190, 192
umbilical ring, xi, 23
transaminases, 158
uncomplicated appendicitis, 39
transcription, 11
undescended testes, xv, 20, 52, 244, 246, 259, 260,
transection, 365, 366, 367
262, 263, 264, 265, 266, 338
transformation, xiii, 125, 128, 131, 134, 168, 274,
United Kingdom, 148
280, 283, 293
United States (USA), 11, 62, 243, 289, 299, 301,
transfusion, 353, 354, 361, 369
324, 382
trans-illumination, 16
upper urinary tract dilation, 235
transition to adulthood, xiv, 181
ureter, xiv, 199, 210, 211, 213, 215, 216, 217, 220,
translocation, 282, 299
222, 365
transmission, 226
ureterocele, 204
Index 405
ureteropelvic junction obstruction, 198, 200, 205, viscera, 15, 16, 109, 114
213 visceral herniations, 109
urethra, 182, 185, 190, 229, 232, 234, 237, 238, 242, vision, 75
246, 248, 252, 253, 255, 256, 265 visualization, 6, 11, 59, 82, 143, 253
urethral strictures, 257 vitamin D, 160
urethrocystoscopy, 233 vitamins, 159
urethroplasty, 241, 246, 247, 249, 255 voiding, 226, 227, 232, 235, 238, 256
uric acid, 298 voiding cystourethrogram, 197, 218, 227
urinalysis, 107, 200, 360 volvulus, 94, 97, 99, 101, 106, 113, 116, 120, 175,
urinary bladder, 20 177
urinary catecholamines, 271, 276 vomiting, 3, 4, 5, 7, 10, 15, 20, 29, 38, 40, 41, 48, 56,
urinary tract, xiv, 38, 178, 185, 187, 191, 195, 196, 62, 99, 101, 102, 103, 139, 141, 146, 148, 165,
197, 198, 200, 201, 204, 215, 216, 217, 224, 225, 175, 290, 298, 304, 352, 360, 374, 380
226, 227, 229, 230, 235, 236, 238, 246, 306 vulva, 184, 315
urinary tract anomalies, 172, 246
urinary tract infection, 38, 191, 197, 198, 204, 215,
216, 217, 224, 225, 226, 227, 235, 236, 238 W
urine, xiv, 103, 158, 185, 196, 197, 205, 215, 230,
WAGR Syndrome, 322
234, 236, 254, 275, 276, 329, 330, 375
Wales, 169
urologist, xiv, 181, 190, 199
Washington, 21, 119, 377
urothelium, 229
water, 5, 31, 32, 262, 376
uterus, 19, 58, 188, 305, 310, 315, 317
weakness, 275, 328
utricle, 246
weight changes, 5
weight gain, 141
V weight loss, 4, 141, 290, 291, 323, 328
West Bank, 203
VACTERL, 67, 68, 69, 70, 77, 82, 182, 183, 188, Western countries, 81, 285
204 Western Europe, xiii, 163
vagina, 182, 185, 312, 315, 317, 318 wetting, 262
vagus, 142, 176 wheezing, 80, 94, 273
vagus nerve, 142 white blood cell count, 43, 367
valve, 32, 138, 215, 230, 234, 235, 236, 237, 238, windows, 357
298 Wisconsin, 208
valve bladder syndrome, 235 workers, 253
varicocele, 265, 315, 323, 339 working class, 326
vas deferens, 20, 198, 264 World Health Organization (WHO), 306, 318, 368
vascular tumors, xv, 285 worldwide, 75, 350, 381
vascularization, 59, 89 wound healing, 246
vasculature, 56, 129 wound infection, 25, 42, 167, 264
vasoactive intestinal peptide, 275
vein, 23, 74, 111, 264, 323, 324, 353, 367
ventilation, 73, 74, 76, 92, 132, 177, 352 X
ventral curvature, xv, 241, 242, 245, 249
Xanthogranulomatous Pyelonephritis, 323
ventricular septal defect, 90, 188
x-rays, 30
vertebrae, 172, 182, 184
vesicoureteral reflux, xiv, 197, 215, 217, 218, 221,
222, 223, 225, 226, 227, 228, 232, 234, 238 Y
vessels, xv, 18, 19, 20, 28, 90, 101, 109, 134, 142,
143, 178, 210, 264, 265, 266, 269, 279, 287, 313, yolk, 272, 305, 311, 337, 338, 340, 341
342 yolk sac tumor, 305, 337, 338, 340, 341
Vietnam, 35 young adults, 87
viral infection, 16, 38, 156

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PEDIATRICS - LABORATORY AND CLINICAL RESEARCH

PEDIATRIC SURGERY HANDBOOK FOR

Additional books in this series can be found on Nova’s website

Additional e-books in this series can be found on Nova’s website

PEDIATRIC SURGERY HANDBOOK FOR

NOTICE TO THE READER

Library of Congress Cataloging-in-Publication Data

ISBN:  HERRN

Library of Congress Control Number: 2016963450

Published by Nova Science Publishers, Inc. † New York

Chapter 11 Omphaloceles and Gastroschisis 109

Chapter 28 Pelvic Tumors 303

considerable improvement in the diagnosis of acute paediatric appendicitis. Nevertheless, it is

Chapter 23 - Hypospadias is a developmental anomaly characterized by a urethral meatus

Celia Cretolle, MD, PhD

Frederic Auber, MD, PhD

Isam Waddah Nasr, MD

Naziha Khen Dunlop, MD-PhD

Nejib Kaabar, MD, PhD

Sofien Ghorbel, MD, PhD

Stefan Scholz, MD, FACS, FAAP

Sylvie Beaudoin, MD, PhD

HYPERTROPHIC PYLORIC STENOSIS

Chaima Mrad1, MD, Taieb Chouikh2,*, MD

Keywords: hypetrophic pyloric stenosis, nonbilous vomiting, abdominal ultrasound,

Estimating dehydration is an important first step in determining optimal approaches to

The classical picture is hypochloremic metabolic alkalosis due to loss of hydrochloric

The treatment of HPS has undergone an impressive evolution. Initially, nonsurgical

Figure 2. Different acceses to the pyloric Olive.

Figure 3. Grasping the pylorus (a)(b)(c).

Mucosal Perforation: (1-2% of Cases)

Incisional Hernias and Wound Dehiscence: (1%of Cases)

Post-Operative Emesis: (80% of Patients)

INGUINAL HERNIA AND HYDROCELE

Chaima Mrad1, MD, Sofien Ghorbel2, MD, PhD

Table 1. The conditions associated with an increased incidence

Conditions associated with an increased incidence of inguinal hernia

Figure 1. Failure of obliteration of the precessus vaginalis (PV).

There is usually a history of an asymptomatic bulge or mass in the groin or scrotum or

Reduction of Inguinal Hernia (Taxis)

Open Approach [6]

Figure 2a. Inguinal incision.

Figure 2b. Dissection of the hernial sac.

Figure 2c. Closure of the hernial sac.

Figure 3. Laparoscopic repair of inguinal hernia (DR Chouikh).

A: Large opened inguinal ring containing an epiploic flap.

The Early Complications

 Intestinal obstruction; (iatrogenic trauma of the bowel)

Late Complications Comprise

Chaima Mrad1, MD, Taieb Chouikh2,3,4,, MD

Keywords: Umbilical Hernia, Surgery, Time of surgery

EMBRYOLOGY AND ANATOMY

Spontaneous rupture of an umbilical hernia remains exceptional [8]. B. Zendejas et al.

SURGICAL TECHNIQUE [3-10]

Chaima Mrad1, MD and Taieb Chouikh2,*, MD

Keywords: intestinal occlusion, emergency, intussusception, hydrostatic reduction, surgery

Idiopathic or Primary Intussusception

Table 1.Common pathological lead points:

Plain abdominal X-ray may show suggestive abnormalities as an abdominal mass,

ISBN: HERRN