Case 3384: Hirschsprung's Disease in A Neonate

Case 3384
Hirschsprung’s disease in a
neonate
Published on 22.08.2005
DOI: 10.1594/EURORAD/CASE.3384
ISSN: 1563-4086
Section: Paediatric radiology
Case Type: Clinical Cases
Authors: Vivier PH, El Ferzli J, Cellier C, Le Dosseur P,
Dacher JN
Patient: 3 days, male
Clinical History:
A 3-day-old baby was presented with failure to pass meconium and abdominal distension.
Imaging Findings:
This full-term baby was born by normal vaginal delivery, and his weight birth was 3200 g. The prenatal sonographic
examinations were found to be normal, and there was no family history. This newborn was presented with failure to
pass meconium and abdominal distension. A supine abdominal radiograph was taken, which showed the presence
of multiple dilated large and small bowel loops. Gas was absent in the rectum. A nonionic iso-osmolar water-soluble
enema showed a transition zone between the narrow and the dilated portions of the descending colon in the shape
of an inverted cone.
Discussion:
The causes of neonatal lower intestinal obstruction include imperforate anus, meconium plug syndrome, meconium
ileus, Hirschsprung's disease, small left colon syndrome, megacystis-microcolon-intestinal hypoperistalsis
syndrome, and colonic atresia or stenosis. The histopathologic basis to assert the diagnosis of Hirschsprung's
disease is the absence of ganglion cells in the myenteric plexus. This results in a narrowed aganglionic segment
with a proximal dilated colon. The myenteric ganglion cells arise from the neural crest and migrate cephalo-caudally
along the vagal trunks through the intestines. An early arrest in the migration between the 7th and 12th weeks of
gestation leads to Hirschsprung's disease and can affect a variable length of the colon and the small bowel. The
incidence of Hirschsprung's disease is one per 5,000 live births. Hirschsprung's disease occurs three to four times
more often in boys and, for unknown reasons, is rare in premature infants. During the neonatal period, 80% of the
patients exhibit symptoms including delay in the passage of meconium, abdominal distention, constipation, and
bilious vomiting. Complications of Hirschsprung's disease include enterocolitis and perforation of the bowel (colon,
appendix, or ileon). Retrograde opacification is contraindicated in patients with clinical signs of fulminant
enterocolitis or signs of perforation on abdominal radiographs. The key radiologic examination in those infants is the
water-soluble contrast medium enema. The most reliable radiographic sign of Hirschsprung’s disease is the
presence of a gradual transition zone between the abnormal and the normal bowel. The transition zone is found in
65% infants in the rectosigmoid or sigmoid colon with a rectosigmoid caliber ratio less than 1, 14% in the
descending colon, 8% in the rectum, and 10% in a more proximal segment of the large bowel. The patient should
not have any prior cleansing enema prior to radiographic studies, as it may interfere with the demonstration of the
transition zone. As soon as the transition zone has been detected, the examination should be discontinued as filling
of the dilated bowel may lead to impaction. The transition zone is seen in approximately 80% of the infants. The
diagnosis is unequivocal in only 50% of them during the first week of life. In dubious cases, delayed radiographs
may be helpful in evaluating the evacuation of contrast material. The post-evacuation images may also show a
transition zone, which had not been shown by the initial radiographs. Contrast medium trapping is not specific but it
may be the only sign of Hirschsprung's disease in total colonic aganglionosis. A false positive transition zone at the
splenic flexure may be seen in neonates who have small left colon syndrome. The other radiographic findings
include denervation hyperspasticity (narrowing) of the distal segment with a sawtooth configuration due to muscular
contractions, microcolon, and bowel shortening. In addition to the contrast-enhanced enema, a rectal manometry
has to be performed. This examination usually shows the absence of rectoanal inhibitory reflex. If both studies
confirm the disease, a mucosal rectal biopsy is not necessary before surgery. This child successfully underwent
surgical resection of the denervated segment.
Differential Diagnosis List: Recto-sigmoid Hirschsprung’s disease.
Final Diagnosis: Recto-sigmoid Hirschsprung’s disease.
References:
T. Berrocal, M. Lamas, J. Gutierrez, I. Torres, C. Prieto, and M. L. del Hoyo

Congenital Anomalies of the Small Intestine, Colon, and Rectum
RadioGraphics, 1999; 19(5): 1219 - 1236. (PMID: 10489177)
NS Rosenfield, RC Ablow, RI Markowitz, M DiPietro, JH Seashore, RJ Touloukian and DV Cicchetti. Hirschsprung
disease: accuracy of the barium enema examination. Radiology, 1984;150(2):393-400. (PMID: 6691093)
L. Das Narla and E. A. Hingsbergen.Total Colonic Aganglionosis-Long-Segment Hirschsprung Disease. Radiology,
2000; 215(2): 391-394. (PMID: 10796914)
Figure 1
a
Description: A supine abdominal radiograph showing the dilated large and small bowel loops. No gas
is visible in the rectum. Origin:
Figure 2
a
Description: A lateral radiograph showing the transition zone (*) between the dilated colon (b) and the
non-dilated colon (a) , with a caliber ratio less than 1: a/b <1. Origin:
b
Description: A radiograph showing the rectosigmoid transition zone with very dilated sigmoid colon as
compared with the rectum. Origin:
Figure 3
a
Description: A photograph showing the passage of meconium after enema. Origin:

Case 3384: Hirschsprung's Disease in A Neonate

Uploaded by

Copyright:

Available Formats

Case 3384: Hirschsprung's Disease in A Neonate

Uploaded by

Document Information

Original Description:

Original Title

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Case 3384: Hirschsprung's Disease in A Neonate

Uploaded by

Copyright:

Available Formats

Case 3384

Final Diagnosis: Recto-sigmoid Hirschsprung’s disease.

T. Berrocal, M. Lamas, J. Gutierrez, I. Torres, C. Prieto, and M. L. del Hoyo

Description: A photograph showing the passage of meconium after enema. Origin:

You might also like