PEDIATRICS

1. Angioedema Hereditary angioedema (C1 inhibitor deficiency) should be suspected in a patient with recurrent
episodes of edema (e.g. face, limbs, bowel, larynx), particularly with a positive family history. Low C4 on complement
testing is consistent with the diagnosis.

2. Anaphylaxis Patients with anaphylaxis should be admitted to the hospital when symptoms are protracted or
severe (e.g. hypotension, upper airway edema, respiratory distress), or require multiple doses of epinephrine to resolve.
These patients are at increased risk of biphasic anaphylaxis (i.e. recurrence of symptoms after an initial period of
resolution), which can be fatal.

3. Common Variable Immunodeficiency Common variable immunodeficiency is characterized by decreased

immunoglobulin production due to impaired differentiation of B cells into plasma cells. Patients typically develop
recurrent sinopulmonary infections after puberty and have low IgG plus low IgA and/or IgM, as well as decreased
antibody response to vaccines.

4. X-Linked Agammaglobulinemia X-linked agammaglobulinemia should be suspected in a fully immunized child

who has Haemophilus influenzae type b infection. Laboratory studies reveal low immunoglobulin levels with deficient
antibody response to vaccines as well as markedly reduced CD19+ B lymphocytes on flow cytometry.

5. X-Linked Agammaglobulinemia X-linked agammaglobulinemia is an immunodeficiency characterized by

impaired B-cell maturation and antibody production. Commonly associated conditions include recurrent sinopulmonary
infections, chronic enteroviral meningoencephalitis, and prolonged diarrheal illness.

6. Transient Hypogammaglobulinemia Transient hypogammaglobulinemia of infancy is a self-limited disorder

characterized by low IgG (but normal leukocytes and antibody response to vaccines) due to prolonged physiologic nadir
(age > 6 months). Patients may be asymptomatic or have recurrent infections and atopic disease.

7. Food Allergy An infant without severe, refractory eczema or an IgE-mediated food allergy is considered low
risk for developing food allergies, and early introduction of highly allergenic foods after age 4-6 months is recommended.

8. Anaphylaxis Anaphylaxis is a life-threatening, multisystem disorder that typically involves the skin or mucosa
in association with the cardiovascular or respiratory system. Other common manifestations include gastrointestinal,
neurologic, and ocular symptoms. Management includes the prompt administration of intramuscular epinephrine.

9. Common Variable Immunodeficiency Common variable immunodeficiency (CVID) is caused by abnormal B-

cell differentiation, leading to decreased immunoglobulin production. CVID typically presents in early adulthood or
adolescence with recurrent sinopulmonary and gastrointestinal (e.g. Giardia) infections, failure to thrive, and chronic
pulmonary disease. Treatment is intravenous immunoglobulins.

10. Chronic Granulomatous Disease Chronic granulomatous disease is an X-linked immunodeficiency disorder due to
NADPH oxidase abnormalities, resulting in decreased formation of superoxide anions and susceptibility to infections such
as Staphylococcus aureus, Serratia, and fungi.

11. Severe Combined Immunodeficiency Disease Severe combined immunodeficiency presents in infancy with
severe infections, failure to thrive, and chronic diarrhea. Absence of T cells and dysfunctional B cells are diagnostic.
Treatment requires urgent stem cell transplantation.

12. Chronic Granulomatous Disease Chronic granulomatous disease is caused by impaired intracellular killing by
phagocytes. Pneumonia, cutaneous abscesses, and suppurative adenitis are common. Diagnosis is made by neutrophil
function testing (e.g. dihydrorhodamine 123 or nitroblue tetrazolium testing).

13. Immunizations Preterm infants should receive routine immunizations according to chronologic age rather than
age corrected for gestation. Live virus vaccines are withheld in immunocompromised patients, but mild intercurrent illness
 is not a contraindication to vaccination.

14. Immunizations Anaphylaxis, unstable neurologic disorders, and encephalopathy (e.g. coma, decreased
consciousness, prolonged seizures) within a week of administration of the diphtheria-tetanus-acellular pertussis vaccine
are contraindications for future administration of pertussis-containing vaccines. However, uncomplicated seizures are not.

15. Leukocyte Adhesion Deficiency Leukocyte adhesion deficiency presents with delayed umbilical cord separation,
recurrent skin and mucosal bacterial infections (without purulence), and severe periodontal disease. Marked leukocytosis
with neutrophil predominance is common.

16. Selective IgA Deficiency Selective IgA deficiency is the most common primary immune deficiency, and
can present with recurrent sinopulmonary and gastrointestinal infections as well as atopic and autoimmune disease. With
severe deficiency, production of anti-IgA antibodies can lead to anaphylaxis during blood transfusion.

17. Decision Making Capacity Physicians must respect parents' medical decision for their children, with the
exception of refusal of life-saving treatment. Physicians must counsel parents about the health risks of refusing vaccination
and document the discussion in the medical chart. In addition, physicians should be aware of the vaccination exemption
laws in their state.

18. Chronic Granulomatous Disease Chronic granulomatous disease presents with recurrent cutaneous and pulmonary
infections with catalase-positive organisms (e.g. Staphylococcus aureus, Serratia). Abnormal oxidative burst (e.g.
dihydrorhodamine testing) is diagnostic.

19. Severe Combined Immunodeficiency Disease Severe combined immunodeficiency is a life-threatening

condition caused by defective T cell maturation. Affected patients present with failure to thrive, recurrent infections (viral,
fungal, bacterial), and extremely low lymphocyte concentrations. Treatment requires stem cell transplantation.

20. Hyper-IgM Syndrome Primary humoral immunodeficiency syndromes present with recurrent or severe
sinopulmonary infections. Hyper-IgM syndrome is due to a defect in the CD40 ligand and is characterized by high IgM
levels, low IgG and IgA, and normal lymphocyte populations.

21. X-Linked Agammaglobulinemia X-linked (or Bruton) agammaglobulinemia presents with recurrent
sinopulmonary or gastrointestinal infections in late infancy. Serum immunoglobulins and B cells are markedly low to
absent.
22. Angioedema Hereditary angioedema results from deficiency or dysfunction of C1 inhibitor and is characterized
by recurrent episodes of edema (e.g. face, limbs, genitalia, bowel, larynx) without associated pruritus or urticaria.

23. X-Linked Agammaglobulinemia X-linked (or Bruton) agammaglobulinemia is characterized by severely decreased
immunoglobulins due to a failure of B-lymphocyte maturation. Affected patients have small or absent lymphoid tissue and
develop recurrent sinopulmonary and gastrointestinal infections once protection from transplacental maternal antibody
wanes.
24. Statistical Tests Analysis of variance (ANOVA) compares the means of independent groups and determines only
whether at least 2 groups means differ. Nonoverlapping confidence intervals always imply a statistically significant
difference between groups; however, the opposite is not necessarily true.

25. Case Control Studies Experimental studies (e.g. randomized control trials) can help establish causal
relationships whereas observational studies (e.g. case series) only suggest associations. Results of observational studies do
not provide enough scientific evidence to make clinical decisions (e.g. treating patients with new drugs or therapies).

26. Infant Of Diabetic Mother Transient hypertrophic cardiomyopathy may be seen in infants of diabetic
mothers due to myocardial fat and glycogen deposition. Left ventricular outflow tract obstruction causes a systolic ejection
murmur with or without hypotension and respiratory distress. Characteristic echocardiographic findings of a thickened
interventricular septum spontaneously regress by age 1 due to normalization of insulin levels.
27. Infant Of Diabetic Mother Infants of diabetic mothers are at increased risk for transient hypertrophic
cardiomyopathy with dynamic left ventricular outflow tract obstruction (LVOT). Management includes β blockers (e.g.
propranolol), which reduce LVOT obstruction by increasing LV filling time and end-diastolic volume (due to reduction in
heart rate) and decreasing the pressure gradient between the LVOT and aorta (due to reduction in contractility).

28. Aortic Coarctation Severe aortic coarctation, which increases left ventricular afterload, can present in the
neonatal period with congestive heart failure (e.g. respiratory distress, poor feeding) and cardiogenic shock upon closure
of the ductus arteriosus.

29. Ventricular Septal Defect A ventricular septal defect causes a holosystolic murmur at the left sternal border
due to left-to-right intracardiac shunting. Right ventricular volume overload leads to increased left atrial preload and
enlargement of both the right ventricle and left-sided chambers. Chest x-ray typically reveals an enlarged left heart
contour.
30. Persistent Pulmonary Hypertension Persistent pulmonary hypertension of the newborn can be caused by
conditions that injure the lungs such as meconium aspiration syndrome. Treatment of pulmonary hypertension includes
oxygenation, ventilation, and the use of pulmonary vasodilators such as inhaled nitric oxide.

31. Persistent Pulmonary Hypertension Persistent pulmonary hypertension of the newborn is characterized by
abnormal persistence of elevated pulmonary vascular resistance, causing right-to-left shunting across a patent ductus
arteriosus. Patients have a low postductal saturation compared to the preductal saturation and normal distal pulses.

32. Ventricular Septal Defect Ventricular septal defects (VSDs) cause left-to-right shunting that leads to
volume overload of the right ventricle, increased pulmonary circulation, and volume overload of the left side of the heart.
In infants, VSDs may present with tachypnea, tachycardia, and poor feeding due to high-output heart failure and
pulmonary overcirculation.

33. Aortic Coarctation Aortic coarctation can present with acute heart failure and cardiogenic shock upon closure
of the ductus arteriosus. Administration of prostaglandin E1 maintains ductal patency, which restores systemic blood flow
by shunting blood from the pulmonary artery to the aorta (right-to-left).

34. Neonatal Evaluation Routine newborn care includes screening for critical congenital heart disease (e.g. ductal-
dependent lesions, cyanotic heart disease) with pre- and post-ductal pulse oximetry in all infants.

35. PDA A patent ductus arteriosus (PDA) is associated with a continuous flow murmur due to constant movement
of blood from the high-pressure aorta to the low-pressure pulmonary artery. Small PDAs are often asymptomatic and
detected incidentally on routine cardiac auscultation.

36. Myocarditis Myocarditis is most commonly caused, in children, by viral infection and typically presents
following a viral prodrome with signs of heart failure (e.g. respiratory distress, murmur, cardiomegaly, hepatomegaly).

37. Tetralogy of Fallot The degree of right ventricular outflow tract obstruction can fluctuate in tetralogy of
Fallot. Patients with mild obstruction can develop a dramatic spasm resulting in hypercyanotic, hypoxic, or 'tet' spells.
Placement of patients in a knee-chest position during a hypercyanotic spell increases systemic vascular resistance,
increases pulmonary blood flow, and improves hypoxemia.

38. Pericardial Effusion Pericardial effusion can occur after cardiac surgery and typically presents with distant,
'muffled' heart sounds and signs of decreased cardiac output (e.g. tachycardia, tachypnea). An enlarged cardiac silhouette
on chest x-ray is characteristic.

39. Ventricular Septal Defect Large ventricular septal defects cause growth failure, easy fatigability, and heart
failure. They classically produce a holosystolic murmur that is loudest at the left lower sternal border and an apical
diastolic rumble due to increased blood flow across the mitral valve.

40. Congenital Cardiac Defects As the patent ductus arteriosus closes, ductal-dependent congenital heart disease
presents with cyanosis if pulmonary blood flow is obstructed or hypotension if systemic blood flow is obstructed.
 Prostaglandin E1 maintains the patency of the ductus arteriosus and is life-saving in infants with ductal-dependent
congenital heart disease.

41. Vascular Ring Vascular rings are congenital malformations of the great vessels that encircle and compress the
trachea and/or esophagus. Respiratory symptoms may include biphasic stridor that improves with neck extension.
Esophageal symptoms include dysphagia, vomiting, and difficulty feeding.

42. Congenital Cardiac Defects Transposition of the great vessels is a congenital cyanotic heart defect that
typically presents within the first 24 hours of life with cyanosis and a single loud S2.

43. Ventricular Septal Defect The classic ventricular septal defect murmur is a harsh, holosystolic murmur best
heard at the left lower sternal border. Echocardiography should be performed to determine the location and size of the
defect and to rule out other defects. Most small ventricular septal defects close spontaneously and require no treatment.

44. Long QT Syndrome Patients with congenital long QT syndrome are at risk for polymorphic ventricular
tachycardia that leads to syncope or sudden cardiac death, especially during periods of rapid heart rate and high
sympathetic activity. β blockers (e.g. propranolol, nadolol) dampen sympathetic activity and shorten the QT interval at
high heart rates to reduce the risk of these complications.

45. Physiologic Murmur Innocent cardiac murmurs result from normal blood flow from a structurally normal heart.
The intensity is typically grade I or II and decreases with standing. Benign murmurs are also early or mid-systolic in
timing. Management consists of observation and reassurance.

46. DiGeorge Syndrome Newborns with DiGeorge syndrome (22q11.2 microdeletion syndrome) classically have
conotruncal cardiac defects (e.g. transposition of the great arteries, truncus arteriosus) and an absent thymus. Patients are
at risk for potentially life-threatening hypocalcemia due to parathyroid hypoplasia.

47. Turner Syndrome Patients with Turner syndrome are at increased risk for cardiovascular abnormalities and
should undergo cardiac evaluation (e.g. echocardiography, 4-extremity blood pressures) to evaluate for bicuspid aortic
valve, coarctation of the aorta, and aortic root dilation.

48. Tetralogy of Fallot Tetralogy of Fallot can present with hypercyanotic 'tet' spells due to right ventricular
outflow tract (RVOT) obstruction and right-to-left shunting in the setting of exertion or agitation. Squatting increases
afterload, which increases blood flow across the RVOT, which in turn improves cyanosis.

49. Down Syndrome Complete atrioventricular septal defect is the most common heart defect in Down
syndrome. Clinical features can include heart failure in early infancy, a fixed split S2, and a systolic ejection murmur due
to increased pulmonary flow from the atrial septal defect.

50. Kawasaki Disease Kawasaki disease is characterized by > 5 days of fever and > 4 of the following:
nonexudative conjunctivitis, mucositis (e.g. 'strawberry tongue'), rash, extremity changes, and cervical lymphadenopathy.
Echocardiogram is indicated for all patients at diagnosis to assess for coronary artery aneurysms.

51. Rheumatic Fever Patients with a history of acute rheumatic fever are at risk of progressive rheumatic heart
disease from recurrent group A Streptococcus pharyngitis. Treatment with penicillin prophylaxis prevents streptococcal
infections and limits the progression of heart disease.

52. Hypertrophic Cardiomyopathy In patients with hypertrophic cardiomyopathy (HCM), maneuvers that increase
preload or afterload (e.g. squatting, leg raise, hand grip) increase left ventricular (LV) cavity size and decrease outflow
obstruction, thereby decreasing the intensity of the murmur. Maneuvers that decrease LV cavity size by decreasing preload
(e.g. Valsalva, abrupt standing, amyl nitrite administration) cause worsening of LV outflow tract obstruction and increase
the intensity of the murmur.

53. Hypertrophic Cardiomyopathy Adolescents with a family history of sudden death in a young relative should
refrain from sports until an electrocardiogram (ECG) and echocardiography are performed. Hypertrophic cardiomyopathy
 (HCM) can lead to fatal left ventricular outflow tract obstruction and ventricular arrhythmias. HCM is the most common
cause of sudden death in an otherwise healthy young individual.

54. Trisomy 18 Trisomy 18 (Edwards syndrome) is characterized by micrognathia, microcephaly, rocker-bottom

feet, overlapping fingers, and absent palmar creases. Ventricular septal defect is common in these patients and presents
with a holosystolic murmur at the left lower sternal border.

55. Tetralogy of Fallot Tetralogy of Fallot presents with hypercyanotic 'tet' spells due to obstruction of the right
ventricular outflow tract during exertion. The harsh crescendo-decrescendo systolic murmur over the left upper sternal
border reflects turbulence at the stenotic pulmonary artery.

56. Kawasaki Disease Kawasaki disease is characterized by fever > 5 days in addition to > 4 of the following
clinical features: conjunctivitis, mucositis, rash, extremity changes, and cervical lymphadenopathy. Laboratory findings
that suggest inflammation (e.g. thrombocytosis, elevated erythrocyte sedimentation rate) support the diagnosis.

57. Hemangioma Although most infantile hemangiomas require no treatment, a segmental, facial hemangioma
should be treated with oral propranolol due to an increased risk for ulceration and scarring. These patients should also
undergo screening echocardiography and MRI of the head to assess for PHACE (posterior fossa malformations;
hemangiomas; arterial, cardiac, and eye anomalies) syndrome.

58. Hair Loss Alopecia areata is characterized by patchy, painless hair loss with no erythema, scaling, or
scarring. It is an autoimmune disorder and is often associated with other autoimmune conditions (e.g. autoimmune thyroid
disease). Treatment includes topical or intralesional corticosteroids. A recurring course is common, but most patients have
regrowth over time.

59. Insect Bites and Stings Bedbug bites present as small, pruritic, erythematous papules, often arranged in a linear
pattern on exposed areas and each with a central hemorrhagic punctum. Management of bites is supportive, but definitive
treatment requires eradication of the bugs.

60. Keratosis Pilaris Keratosis pilaris is characterized by retained keratin plugs in the hair follicles. It occurs
most commonly on the posterior surface of the upper arm and manifests as small, painless papules; a roughened skin
texture; and mottled, perifollicular erythema. Exacerbations are common in cold, dry weather. Treatment includes
emollients and topical keratolytics (e.g. salicylic acid, urea).

61. Tinea Tinea pedis most commonly presents with a pruritic rash between the toes. The diagnosis is usually made
clinically but can be confirmed with a potassium hydroxide preparation of skin scrapings. A variety of topical antifungal
agents (e.g. miconazole, terbinafine, tolnaftate) is effective for treatment, but nystatin is not effective.

62. Skin and Soft Tissue Infections Bullous impetigo presents with enlarging, yellow fluid-filled, flaccid bullae that
leave a collarette of scale after rupture. This condition is caused by Staphylococcus aureus, and treatment is with oral
antibiotics.
63. Pityriasis Rosea Pityriasis rosea is a self-limited exanthem that classically begins with a solitary, large herald patch
followed by clusters of smaller oval lesions oriented in a 'Christmas tree' pattern. Management is reassurance alone,
although symptomatic relief of pruritus (e.g. antihistamines, topical corticosteroids) may be indicated.

64. Diaper Dermatitis Streptococcal perianal dermatitis presents in young children as an erythematous, sharply
demarcated perianal rash associated with pruritus and pain. Treatment is with β-lactam antibiotics.

65. Tinea Versicolor Tinea versicolor is a common skin eruption characterized by light macules on the trunk
and upper extremities in adults. In children, the eruption typically involves the face. It is most noticeable after sun
exposure as the surrounding skin becomes darker.

66. Scabies Scabies is an intensely pruritic rash characterized by small erythematous papules and burrows in the
axillae, periumbilical area, genitalia, and interdigital web spaces. First-line treatment is topical 5% permethrin or oral
ivermectin.
67. Melanocytic nevus A congenital melanocytic nevus presents within the first few months of life as isolated
hyperpigmented patches with an increased density of hair follicles.

68. Child Abuse Child abuse in the form of deliberate scald injuries is characterized by burns with sharp lines of
demarcation, uniform depth, lack of splash marks, and spared flexural creases.

69. Tinea Tinea capitis is a superficial dermatophytosis that most commonly occurs in children and
immunocompromised patients. It causes a scaly, erythematous patch that can progress to alopecia with inflammation,
lymphadenopathy, and scarring. Oral griseofulvin or terbinafine are the preferred initial treatment options.

70. Henoch-Schönlein Purpura Henoch-Schönlein purpura is an IgA-mediated vasculitis that presents with
palpable purpura on the lower extremities, arthralgia/arthritis, abdominal pain, and renal disease. Hematuria is the most
common renal manifestation.

71. Seborrheic Dermatitis Seborrheic dermatitis in infants is characterized by a scaly, oily rash affecting the scalp,
eyelids, nasolabial folds, postauricular area, and umbilicus. Spontaneous remission is common. First-line treatment options
include emollients and non-medicated shampoos.

72. Tinea Tinea corporis is a superficial fungal infection characterized by pruritic, scaly, erythematous plaques with
a raised border and central clearing. The diagnosis is usually apparent on inspection and can be confirmed with potassium
hydroxide examination of skin scrapings. Topical antifungals (e.g. clotrimazole, terbinafine) are first-line treatment.

73. Hemangioma Superficial infantile hemangiomas are benign capillary tumors of childhood. They typically
appear during the first weeks of life, initially grow rapidly, and regress spontaneously. Complicated lesions may require
treatment with β blockers.

74. Sunburn Sun avoidance is the best form of photoprotection. Sunscreen with sun protection factor > 30
should be applied 15-30 minutes prior to sun exposure and reapplied every 2 hours as well as immediately after
swimming.
75. HSV Infection Eczema herpeticum is a primary herpes simplex virus infection associated with atopic dermatitis.
Painful vesicles, 'punched-out' erosions, and hemorrhagic crusting along with fever and lymphadenopathy are typical.

76. Dermal Melanocytosis Congenital dermal melanocytosis is commonly found in African, Asian, and Hispanic
infants and presents as gray-blue macules, most commonly on the sacrum and buttocks. The spots usually fade
spontaneously during childhood.

77. Erythema Toxicum Neonatorum Erythema toxicum neonatorum is a benign neonatal rash characterized by
blanching erythematous papules and pustules. It resolves spontaneously within 2 weeks of birth.

78. Staphylococcal Scalded Skin Syndrome Staphylococcal scalded skin syndrome is caused by exfoliative toxin-
producing strains of Staphylococcus aureus and typically occurs in infants and young children. A prodrome of fever,
irritability, and skin tenderness is followed by generalized erythema, superficial flaccid blisters, and epidermal shedding
with light pressure (i.e. Nikolsky sign).

79. Atopic Dermatitis Atopic dermatitis in infants presents with pruritus, and scaly erythematous lesions on the
face, chest, and extensor surfaces of the extremities. Flexural involvement is common in children and adults. Topical
emollients are the first-line treatment.

80. Contact Dermatitis Allergic contact dermatitis is caused by T cell-mediated (delayed, type IV)
hypersensitivity and presents with erythema, edema, and vesicles > 12 hours after contact with the allergen (e.g. poison
ivy, nickel).
81. Chronic Otitis Media Chronic suppurative otitis media is often preceded by an episode of acute otitis media and
is defined as chronic (> 6 weeks), purulent otorrhea with tympanic membrane perforation. Treatment is an ototopical
fluoroquinolone to target the most common pathogens, Staphylococcus aureus and Pseudomonas aeruginosa.
82. Tracheoesophageal Fistula Tracheoesophageal fistula (TEF) with esophageal atresia (EA) presents shortly
after birth with choking or coughing during feeding. Diagnosis is confirmed by resistance of nasogastric tube advancement
beyond the proximal esophagus. Because TEF with EA often occurs with VACTERL association (vertebral, anal, cardiac,
tracheoesophageal, renal, and/or limb anomalies), all patients who have TEF with EA should undergo screening
echocardiography and renal ultrasonography.

83. Otitis Media The eustachian tubes serve to equalize pressure and drain the middle ear through physiologic
opening and closing. Inflammation can cause obstruction and symptoms of eustachian tube dysfunction, including ear
fullness/discomfort, hearing loss, and tinnitus. Examination reveals tympanic membrane retraction.

84. Otitis Media Otitis media with effusion (OME) is defined by middle ear fluid without tympanic membrane
(TM) inflammation (e.g. bulging, erythema). Examination shows air-fluid levels and poor TM mobility. Management is
observation with follow-up for resolution because chronic OME is associated with speech delay and long-term hearing
loss.
85. Cytomegalovirus Congenital cytomegalovirus infection is the most common cause of nonhereditary
sensorineural hearing loss in children. The infection is frequently asymptomatic in infants but can cause progressive or
delayed-onset, unilateral or bilateral hearing loss later in childhood.

86. Thyroglossal Duct Cyst In children, a midline, cystic neck mass that moves with swallowing is likely a
thyroglossal duct cyst. A thyroglossal duct cyst forms from retained epithelium from the embryologic descent of the
thyroid gland.
87. Foreign Body Aspiration Unilateral, purulent rhinorrhea in a young child is often due to a retained
intranasal foreign body.

88. Recurrent Respiratory Papillomatosis Vertical transmission of human papillomavirus subtypes 6 and 11 can
cause recurrent respiratory papillomatosis, which results in hoarseness due to finger-shaped growths on the true vocal
cords.
89. Choanal Atresia Choanal atresia is a congenital obstruction of the posterior nasopharynx. Because neonates are
obligate nasal breathers, bilateral choanal atresia presents with cyanosis that worsens during feeding and improves when
crying. The diagnosis is supported if a small catheter cannot be passed from the nares into the oropharynx.

90. Sinusitis Acute rhinosinusitis presents with upper respiratory symptoms (e.g. rhinorrhea, congestion,
cough) and facial pain/pressure, with or without fever. Viral rhinosinusitis is more likely than bacterial rhinosinusitis in
patients who are afebrile with mild symptoms that improve within 10 days. Treatment is supportive care (e.g. nasal
saline/irrigation).

91. Laryngomalacia Laryngomalacia presents with inspiratory stridor due to dynamic collapse of the supraglottic
tissues on inspiration. Stridor increases in periods of increased airflow (e.g. crying, feeding).

92. Laryngomalacia Laryngomalacia is the most common cause of stridor in infants and is due to collapse of the
supraglottic tissues during inspiration. Stridor increases with exertion (e.g. crying, feeding) and improves with prone
positioning.
93. Otitis Externa Otitis externa ('swimmer's ear') is a painful infection of the external auditory canal. It often occurs
after outdoor water exposure due to alterations in ear canal pH, loss of cerumen, skin maceration, and introduction of
bacteria. Pseudomonas aeruginosa is the most common pathogen.

94. Otitis Externa Otitis externa ('swimmer's ear') is characterized by pain, erythema, and edema of the external
auditory canal. It frequently occurs after water exposure or trauma to the canal. Topical antipseudomonal treatment is
appropriate unless complicated by diabetes mellitus, HIV, or infection that has spread beyond the external auditory canal.

95. Epiglottitis After securing the airway in patients with epiglottitis, initial treatment consists of broad-spectrum
antibiotic therapy with ceftriaxone (targeting Haemophilus influenzae and Streptococcus species) and vancomycin
(targeting Staphylococcus aureus).
96. Epiglottitis Epiglottitis is a rare but potentially fatal infection that presents with acute onset of fever, sore
throat, and signs of upper airway obstruction (e.g. stridor, drooling). Plain x-rays may help confirm the diagnosis by
revealing an enlarged epiglottis (thumb sign).

97. Cholesteatoma Cholesteatomas result from the accumulation of keratin debris and squamous epithelial cells
within a tympanic membrane retraction pocket. Symptoms include persistent otorrhea and conductive hearing loss, and
examination often reveals a pearly white mass behind an intact tympanic membrane.

98. Hearing Loss Repeated ear infections can result in conductive hearing loss, which may be confused with certain
pervasive and behavioral disorders of childhood. Hearing tests should be routinely conducted in all children presenting
with social or language deficits.

99. Otitis Media Oral antibiotics for acute otitis media should be administered to children with high fever, severe
pain, or bilateral disease. Amoxicillin is first-line therapy, and amoxicillin-clavulanate is indicated for persistent or
recurrent infection.

100. Choanal Atresia Choanal atresia should be suspected in an otherwise well-appearing newborn with
cyanosis worsened by feeding and relieved by crying. Failure to pass a catheter through the nares into the oropharynx is
suggestive of the diagnosis.

101. Sinusitis Acute bacterial rhinosinusitis is distinguished from a viral upper respiratory infection by
the presence of severe, persistent, or worsening symptoms (e.g. cough, nasal discharge). Treatment is with oral antibiotics.

102. Otitis Externa Otitis externa ('swimmer's ear') is characterized by pain, erythema, edema, and discharge;
it frequently occurs after swimming. Loss of cerumen, trauma, and foreign materials in the ear canal can increase the risk.
The most common pathogen is Pseudomonas aeruginosa.

103. Peritonsillar Abscess Peritonsillar abscess is characterized by fever, pharyngeal pain, and earache.
Examination findings include trismus, muffled voice, and swelling of peritonsillar tissues with deviation of the uvula.
Treatment involves needle aspiration or incision and drainage plus antibiotic therapy.

104. Mastoiditis Acute mastoiditis is a complication of acute otitis media. It is characterized by fever,
otalgia, and mastoid process inflammation with displacement of the auricle.

105. Otitis Media Cholesteatomas in children can either be congenital or acquired secondary to chronic
middle ear disease. New-onset hearing loss or chronic ear drainage despite antibiotic therapy are typical presenting
symptoms of cholesteatomas, and granulation tissue and skin debris may be seen within retraction pockets of the tympanic
membrane on otoscopy.

106. Otitis Media Acute otitis media, a common cause of otalgia in young children, is characterized by
middle ear inflammation (e.g. tympanic membrane [TM] bulging +/- erythema) and effusion (e.g. poor TM mobility).

107. Laryngomalacia Laryngomalacia presents in infants with inspiratory stridor that worsens in the supine
position and improves in the prone position. Laryngoscopy shows collapse of the supraglottic structures during inspiration.
Concurrent gastroesophageal reflux should be treated. Laryngomalacia usually resolves spontaneously by age 18 months.

108. Epiglottitis Epiglottitis presents with abrupt onset of fever, dysphagia, drooling, and respiratory
distress. Signs of impending airway obstruction include anxiety and tripod positioning (i.e. upright/forward positioning
with neck hyperextension).

109. Diabetes Insipidus The differential diagnosis for polyuria and dilute urine includes central or
nephrogenic diabetes insipidus (DI) or primary polydipsia. The water deprivation test can differentiate between DI and
primary polydipsia. Following water deprivation, urine osmolality remains unchanged in DI but increases in primary
polydipsia.
110. Galactosemia Galactosemia is characterized by the inability to metabolize galactose (found in breast and
cow's milk) to glucose, resulting in galactose accumulation and hypoglycemia. Patients may have vomiting, jaundice,
hepatomegaly, and Escherichia coli sepsis. Hyperbilirubinemia may be conjugated (i.e. liver dysfunction) and/or
unconjugated (i.e. hemolytic anemia).

111. Diabetes Mellitus The incidence of type 2 diabetes in adolescents and young adults is increasing in
association with a rise in childhood obesity. Excess adiposity contributes to insulin resistance, which is aggravated by
increasing growth hormone levels at puberty. Other findings seen with insulin resistance include acanthosis nigricans,
central obesity, elevated blood pressure, and lipid abnormalities.

112. Diabetes Mellitus Exercise increases glucose uptake by skeletal muscle cells. Patients with type 1
diabetes taking a basal-bolus insulin regimen should decrease pre-meal bolus insulin prior to exercise; for prolonged
exercise, basal insulin should be decreased as well. Patients with diabetes who initiate a strenuous exercise regimen should
also be counseled to increase carbohydrate intake, particularly if training sessions are > 60 minutes in duration.

113. Rickets Nutritional rickets classically occurs in exclusively breastfed infants without vitamin D
supplementation. Presentation includes craniotabes (soft skull bones) and forearm deformities (widened wrists,
radial/ulnar bowing). Lower extremity bowing occurs once patients are weight-bearing.

114. Galactosemia Galactosemia is an inborn error of metabolism that presents in the first week of life with
vomiting, jaundice, hypotonia, and hepatomegaly. Progressive deposition of galactitol, a by-product of galactose, leads to
cataracts. Management is a galactose-free diet (e.g. soy-based formula).

115. Congenital Adrenal Hyperplasia Classic congenital adrenal hyperplasia occurs due to 21-hydroxylase
deficiency, which leads to the buildup of 17-hydroxyprogesterone and testosterone. Genotypically female newborns
(46,XX) have virilized genitalia (e.g. underdeveloped phallus) and nonpalpable gonads. Electrolyte abnormalities do not
develop until age 1-2 weeks.

116. Precocious Puberty Precocious puberty is the onset of secondary sexual characteristics before age 8 in
girls and age 9 in boys. Initial evaluation includes obtaining a bone age evaluation to assess skeletal maturation.

117. Gaucher Disease Gaucher disease is a lysosomal storage disease with the accumulation of
glucocerebroside in macrophages of the bone, liver, and spleen; this accumulation results in cytopenias, bone pain, failure
to thrive, and hepatosplenomegaly. Presentation ranges from mild to severe, and diagnosis can occur at any age.

118. Infant of Diabetic Mother Fetal hyperglycemia during the first trimester is associated with
malformations; fetal hyperglycemia after the first trimester is associated with perinatal complications such as macrosomia,
birth injury, and hypoglycemia. Neonatal hypoglycemia is the most common complication among infants of diabetic
mothers.
119. Refeeding Syndrome Refeeding syndrome is a potentially fatal complication of nutritional
rehabilitation in anorexia nervosa. Carbohydrate intake stimulates insulin activity, which in turn promotes cellular uptake
of phosphorus, potassium, and magnesium, leading to electrolyte deficiency. Cardiac manifestations include arrhythmias
and congestive heart failure. Other common complications involve the muscular (e.g. weakness, rhabdomyolysis),
gastrointestinal (e.g. diarrhea, elevated transaminases), and neurologic (e.g. tremor, seizure) systems.

120. Short Stature Constitutional growth delay is characterized by short stature (height at the < 2nd
percentile) and normal linear growth velocity after age 3. Puberty and bone age are delayed, and adult height is typically
normal.
121. Diabetic Ketoacidosis Diabetic ketoacidosis (DKA) presents with polyuria, abdominal pain, and fatigue
and is often precipitated by infection. Laboratory results demonstrate hyperglycemia and an anion gap metabolic acidosis.
DKA is characterized by an osmotic diuresis that reduces total body potassium even though serum potassium may be
normal or elevated.

122. Congenital Adrenal Hyperplasia Non-classic congenital adrenal hyperplasia is a cause of gonadotropin-
independent precocious puberty. Patients can have premature secondary sexual characteristics (e.g. pubic hair, cystic
 acne), accelerated growth and bone age, and low/normal LH levels.

123. Precocious Puberty Central (gonadotropin-dependent) precocious puberty (PP) is characterized by

premature breast and pubic/axillary hair development, advanced bone age, and an elevated LH level. Patients with central
PP require an MRI of the brain to evaluate for a tumor prior to starting GnRH agonist therapy.

124. Precocious Puberty Precocious puberty, the onset of secondary sexual characteristics in girls age < 8
and boys age < 9, has both central and peripheral causes. Central precocious puberty is due to early activation of the
hypothalamic-pituitary-gonadal axis and presents with increased levels of FSH and LH.

125. Precocious Puberty Premature adrenarche is caused by early activation of adrenal androgens and is
more common in obese children. Typical presentation includes precocious development of pubic and axillary hair, acne,
and body odor in a child with a normal bone age.

126. Hypothyroidism Congenital hypothyroidism is associated with neurodevelopmental injury if not

recognized and treated early. Decreased activity, hoarse cry, and jaundice are commonly associated with congenital
hypothyroidism, but the majority of infants with congenital hypothyroidism are asymptomatic. Thyroid dysgenesis is the
most common cause of congenital hypothyroidism worldwide.

127. Hypothyroidism Infants with congenital hypothyroidism initially appear normal at birth, but
gradually develop apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, and an umbilical
hernia. For this reason, screening newborns for hypothyroidism, along with phenylketonuria and galactosemia, is
standardly performed in all states.

128. Congenital Adrenal Hyperplasia Deficiency of 21-hydroxylase is the most common cause of congenital
adrenal hyperplasia and classically presents with dehydration, salt-wasting, and virilization. Elevated 17-
hydroxyprogesterone levels are diagnostic.

129. Glycogen Storage Disease Glucose-6-phosphatase deficiency (type I glycogen storage disease, von
Gierke disease) presents at age 3-4 months with hypoglycemia (often with seizures), lactic acidosis, hyperuricemia, and
hyperlipidemia. Patients typically have a doll-like face, thin extremities, short stature, and a protuberant abdomen (due to
hepatomegaly).
130. Phenylketonuria Phenylketonuria is caused by a deficiency of phenylalanine hydroxylase, which
results in the buildup of phenylalanine and its neurotoxic metabolites. Clinical features include intellectual disability, fair
complexion, eczema, and a musty or 'mousy' body odor. Infants diagnosed early through newborn screening and treated
with low-phenylalanine diets can expect normal health and development.

131. Craniopharyngioma Craniopharyngiomas are benign, slow-growing tumors found in the suprasellar
region and typically appear calcified on neuroimaging. Presenting symptoms include bitemporal hemianopsia and signs of
pituitary hormone deficiencies (e.g. diabetes insipidus, growth failure).

132. Puberty Thelarche (typically the first sign of puberty) is normal in girls age > 8 and is characterized by
firm, often tender, breast buds posterior to the nipple. Breast buds can be unilateral in the early stages of puberty.

133. Contraception The adolescent well-child visit should include contraceptive counseling and discussion of
safe sex practices. Contraceptive counseling is an opportunity to develop a trusting health care provider-patient
relationship and to decrease the rates of unintended pregnancies and sexually transmitted infections.

134. Von Willebrand Disease Von Willebrand disease is a common bleeding disorder that causes
impaired platelet adhesion and is the most common cause of heavy, regular menses in adolescents. Platelet counts and PT
are normal, activated PTT may be normal or prolonged.

135. Turner Syndrome Primary amenorrhea is the absence of menarche by age > 15 in girls with
secondary sexual characteristics (e.g. breast development) or age > 13 in girls without secondary sexual characteristics.
 The first step in management is a pelvic ultrasound to evaluate the female reproductive tract.

136. Turner Syndrome Patients with Turner syndrome have primary amenorrhea and lack of breast
development due to low estrogen levels associated with gonadal dysgenesis. Lack of feedback inhibition by estrogen on
the hypothalamic-pituitary-ovarian axis results in increased FSH and LH. An absent X chromosome on karyotype analysis
is diagnostic.
137. Vaginal Foreign Body Prepubertal girls with vaginal foreign bodies typically have malodorous vaginal
discharge and vaginal spotting, commonly secondary to retained toilet paper. Initial management is topical anesthetic
application and either vaginal irrigation with warm fluid or removal with a swab.

138. Abnormal Uterine Bleeding In adolescents who have recently undergone menarche, the immature
hypothalamic-pituitary-ovarian axis results in anovulation and causes abnormal uterine bleeding.

139. Neonatal Evaluation Mammary gland enlargement, leukorrhea, and mild uterine bleeding are common,
benign, and transient in newborns. These are physiologic responses to transplacental maternal estrogen exposure. No
work-up is indicated.

140. Breast Mass Fibroadenoma is the most common cause of breast mass in an adolescent. An adolescent
patient with a suspected fibroadenoma should be re-examined after her menstrual period for a decrease in mass size or
tenderness.
141. Androgen Insensitivity Syndromes Patients with androgen insensitivity syndrome are genotypically
male (46,XY) but appear phenotypically female. These patients are at increased risk of testicular cancer due to their
bilateral cryptorchid testes; therefore, management includes an elective gonadectomy.

142. Turner Syndrome Primary amenorrhea in patients with short stature and aortic coarctation is
suggestive of Turner syndrome. Patients typically have ovarian dysgenesis (i.e. primary ovarian insufficiency), which
results in low estrogen levels. These low estrogen levels cause a lack of negative feedback on the hypothalamic-pituitary-
ovarian axis, resulting in high FSH levels.

143. Amenorrhea Müllerian agenesis, failure of Müllerian duct development, causes an absent uterus,
cervix, and upper third of the vagina (i.e. blind vaginal pouch). Müllerian agenesis does not affect ovarian or external
genital development. Therefore, patients have primary amenorrhea with associated normal female external genitalia and
secondary sexual characteristics.

144. Gynecomastia Pubertal gynecomastia is common in adolescent boys during mid-puberty due to
transiently increased estrogen. Breast tissue can be present unilaterally or bilaterally and is often tender. The condition
usually resolves within a year.

145. Abnormal Uterine Bleeding The most common cause of vaginal bleeding in the neonatal period is
maternal withdrawal of estrogen. The bleeding is self-limited, and no treatment is required.

146. Contraception The levonorgestrel pill (i.e. Plan B) are a readily available and effective emergency
contraception option that prevent pregnancy by delaying ovulation. In most states, adolescents seeking pregnancy
prevention options may receive confidential medical care without parental consent.

147. Ectopic Pregnancy Ectopic pregnancy, which occurs when a developing blastocyst implants in an
extrauterine location (e.g. fallopian tube), can present with nausea/vomiting, pelvic pain, and vaginal bleeding. Therefore,
all reproductive-age women with these symptoms require pregnancy testing.

148. Dysmenorrhea Primary dysmenorrhea commonly occurs in adolescents after the establishment of
ovulatory menstrual cycles. Excessive endometrial prostaglandin production results in lower abdominal cramping and
other associated symptoms (e.g. fatigue) during menses. Symptoms typically decrease with age.

149. Abnormal Uterine Bleeding In adolescents, the immature hypothalamic-pituitary-ovarian axis causes
anovulation and can result in heavy, irregular menstrual bleeding. In hemodynamically stable patients, heavy vaginal
 bleeding is managed with high-dose oral contraceptive therapy to stabilize the endometrium and stop the acute bleeding.

150. Amenorrhea Primary amenorrhea is the absence of menarche in girls age > 13 with no secondary
sexual characteristics. In patients with a uterus, the best next step is an FSH level test, which distinguishes between central
(low/normal FSH) and peripheral (high FSH) causes of amenorrhea.

151. Biliary Cyst Biliary cysts may be asymptomatic or present with abdominal pain, a right upper quadrant
mass, and/or jaundice. All patients should undergo cyst resection to decrease the risk for malignancy (e.g.
cholangiocarcinoma, gallbladder cancer, pancreatic cancer).

152. Food Protein-Induced Allergic Proctocolitis Food protein-induced allergic proctocolitis is a non-IgE-
mediated reaction to a protein (typically cow’s milk or soy) that presents with bloody stools in well-appearing young
infants.
153. Volvulus Small bowel obstruction due to intestinal malrotation with midgut volvulus is a life-
threatening surgical emergency. It should be suspected in any infant with acute abdominal distension, bilious emesis, and
hemodynamic instability. Complications include bowel necrosis and perforation.

154. Volvulus Bilious emesis in a neonate with hemodynamic instability or peritoneal signs (e.g. rigid
abdomen) warrants emergency exploratory laparotomy. Malrotation with midgut volvulus, which can cause intestinal
perforation and necrosis, should be considered in patients who also have a normal rectal examination and air-fluid levels
on x-ray.
155. Volvulus Intestinal malrotation is a common cause of bilious emesis in infants, particularly those
with other associated congenital anomalies (e.g. omphalocele). Symptoms can occur due to duodenal obstruction or
midgut volvulus and may be acute in onset or chronic/intermittent.

156. Necrotizing Enterocolitis Necrotizing enterocolitis is a life-threatening condition that causes

feeding intolerance, abdominal distension, gastrointestinal bleeding, and pneumatosis intestinalis (air in bowel wall) in
premature infants. Initial management is bowel rest, in addition to blood cultures and empiric antibiotics.

157. Toxic Megacolon Toxic megacolon can develop as a complication of infectious colitis (particularly
with loperamide use) due to transmural inflammation and smooth muscle paralysis of the colon. Patients are typically ill-
appearing with fever, abdominal distension, and colonic dilation on imaging.

158. Lactose Intolerance Secondary lactase deficiency caused by intestinal epithelial damage (e.g.
gastroenteritis, celiac disease) leads to carbohydrate (i.e. lactose) malabsorption and transient symptoms of diarrhea,
crampy abdominal pain, and bloating.

159. Hirschsprung Disease Hirschsprung disease typically presents in neonates with decreased stooling,
increased rectal tone, and signs of intestinal obstruction (e.g. bilious emesis, abdominal distension, dilated bowel loops).
Contrast enema is performed to identify the level of obstruction.

160. Hirschsprung Disease Hirschsprung disease is characterized by an aganglionic colonic segment. A short
affected segment can cause chronic refractory constipation and poor growth in young children, and expulsion of gas and
stool on rectal examination is classic. Evaluation includes a contrast enema, which reveals a transition zone between a
distal, narrowed aganglionic segment and a proximally dilated colon.

161. Spleen Rupture Splenic rupture presents with acute abdominal pain, anemia, and shock due to
intraperitoneal hemorrhage. Atraumatic rupture is a rare, potentially fatal complication of infectious mononucleosis, a viral
infection associated with splenomegaly.

162. Breastfeeding Physiologic gastroesophageal reflux (i.e. spit-up) is common in the first 6 months of life
and characterized by infants who are ‘happy spitters’ with normal weight gain and examination. Management is
reassurance, and continued breastfeeding with cholecalciferol (vitamin D) supplementation is encouraged.
163. Foreign Body Ingestion A button battery lodged in the esophagus can cause tissue corrosion, necrosis, and
life-threatening perforation. A circular object with a halo sign on chest x-ray is consistent with a button battery, and
management is immediate endoscopic removal.

164. Celiac Disease Celiac disease is a chronic malabsorptive disorder caused by an immune-mediated
hypersensitivity to gluten; patients with certain autoimmune diseases (e.g. type 1 diabetes, autoimmune thyroiditis) are at
particularly high risk. Pediatric patients often have growth delay, nonspecific gastrointestinal symptoms, and microcytic
anemia. The diagnosis can be confirmed serologically with anti-tissue transglutaminase antibodies or by duodenal biopsy.

165. Biliary Atresia Biliary atresia is characterized by progressive fibrosis and obliteration of extrahepatic bile
ducts. It typically presents at age 2-8 weeks with jaundice, acholic stools, and direct hyperbilirubinemia. Diagnostic
evaluation of biliary anatomy begins with ultrasound of the right upper quadrant.

166. Biliary Atresia Biliary atresia is the fibrosis and obliteration of extrahepatic bile ducts. Bilirubin
production and conjugation continue at a normal rate, but bilirubin cannot be excreted into the intestines (leading to pale
stools) and accumulates in the blood (causing direct hyperbilirubinemia and jaundice).

167. Vascular Ring Vascular rings encircle the trachea and/or esophagus. Compression of the trachea may
present with stridor; compression of the esophagus may present with dysphagia, vomiting, or recurrent food impactions.

168. Meckel Diverticulum Although most cases of intussusception are idiopathic and occur in patients age 6-
36 months, a pathologic lead point should be considered in those with recurrent intussusception or those outside the typical
age range. Meckel diverticulum (diagnosed by Meckel or 99m technetium pertechnetate scan) is the most common lead
point.
169. Esophagitis Eosinophilic esophagitis presents with dysphagia, epigastric pain, vomiting, and food
impaction. Endoscopy with eosinophils on esophageal biopsy is diagnostic.

170. Intussusception Intussusception is an abdominal emergency. Affected patients have episodes of

inconsolable crying, with legs drawn to the abdomen due to pain, followed by asymptomatic periods. Abdominal
ultrasound is diagnostic and reveals a target sign, which represents a bowel segment telescoping into another.

171. Chronic Diarrhea Giardia duodenalis disrupts the epithelial tight junctions between small intestinal
enterocytes, leading to acute malabsorption (e.g. oily, nonbloody, foul-smelling diarrhea) typically lasting up to a month.
Left untreated, chronic giardiasis can result in severe weight loss and vitamin deficiencies.

172. Constipation Constipation is a common problem in toddlers due to transition to solid food and cow's
milk, toilet training, and school entry. In addition to dietary modification, laxative therapy (e.g. polyethylene glycol)
should be initiated promptly to soften stools.

173. Immunizations The rotavirus vaccine effectively prevents most cases of rotavirus gastroenteritis. It is
contraindicated in patients with a history of intussusception due to the small risk of this complication.

174. Gastroesophageal Reflux Disease Gastroesophageal reflux is common in infants due to a shorter
esophagus, incomplete closure of the lower esophageal sphincter, and greater time spent in the supine position. Parents
should be reassured by the infant's adequate weight gain and be advised to hold the infant upright after feeds.

175. Acute Diarrhea Moderate to severe dehydration in children should be treated with an intravenous bolus of
isotonic fluid.
176. Intestinal Atresia Jejunal atresia presents with bilious vomiting and abdominal distension.
Abdominal x-ray reveals a triple bubble sign and gasless colon. Risk factors include prenatal exposure to cocaine and
other vasoconstrictive substances.

177. Colic Colic is a diagnosis of exclusion characterized by crying for no apparent reason for > 3 hours a
day for > 3 days a week in an otherwise healthy infant age < 3 months. Management includes reassurance and review of
 soothing techniques.

178. Intussusception Intussusception presents in children age 6-36 months with periodic abdominal pain. A
target sign on ultrasound should prompt reduction with air or water-soluble contrast enema.

179. Niacin Deficiency Niacin (vitamin B3) deficiency causes pellagra, which is characterized by
diarrhea, a photosensitive dermatitis, and neurologic symptoms ranging from impaired concentration to dementia. Severe
cases can be fatal.

180. Meckel Diverticulum Meckel diverticulum often presents in young toddlers as painless lower
gastrointestinal bleeding without abdominal pain, diarrhea, or vomiting. Diagnosis is with a technetium-99m pertechnetate
scan, which can identify ectopic gastric mucosa.

181. Neonatal Jaundice If bilirubin levels are below the phototherapy threshold, breastfeeding jaundice
can be managed by optimizing lactation and increasing breastfeeding frequency. If the mother's milk supply is inadequate,
supplementation with cow's milk-based formula can be considered, but breastfeeding should not be discontinued.

182. Neonatal Jaundice Breastfeeding jaundice manifests as unconjugated hyperbilirubinemia and

dehydration in the first week of life. Affected infants may also have decreased urine output and delayed stooling, which
leads to suboptimal bilirubin elimination and increased enterohepatic circulation of bilirubin.

183. Riboflavin Deficiency Vitamin B2 (riboflavin) is a water-soluble vitamin that is present in meat, eggs,
yeast, dairy products, green vegetables, and enriched foods. Riboflavin deficiency should be suspected in a malnourished
patient with angular cheilitis, stomatitis, glossitis, normocytic-normochromic anemia, and seborrheic dermatitis.

184. Gastroschisis Gastroschisis is an abdominal wall defect lateral to the umbilical cord insertion site with
herniation of uncovered bowel. Gastroschisis is an isolated defect with no associated conditions. Management includes
neonatal surgical correction.

185. Cystic Fibrosis Meconium ileus is due to inspissated meconium and classically presents with delayed
passage of meconium, in addition to signs of intestinal obstruction with or without perforation at the level of the ileum.
Meconium ileus is virtually diagnostic for cystic fibrosis, which causes chronic sinopulmonary disease.

186. Biliary Atresia Biliary atresia is characterized by fibrosis of the extrahepatic bile duct and presents at age
2-8 weeks with direct hyperbilirubinemia (e.g. jaundice, acholic stools, dark urine) and hepatomegaly. Diagnosis is with
cholangiography, and treatment is hepatoportoenterostomy with or without liver transplant.

187. Cystic Fibrosis Failure to thrive and recurrent respiratory symptoms should raise concern for cystic
fibrosis (CF). Pancreatic insufficiency occurs in CF and causes fat and protein malabsorption, resulting in steatorrhea,
vitamin deficiencies, and poor weight gain.

188. Wilms Tumor Beckwith-Wiedemann syndrome (BWS) is characterized by macrosomia, macroglossia,

hemihyperplasia, umbilical hernia/omphalocele, and neonatal hypoglycemia. Because patients with BWS are at increased
risk of developing Wilms tumor and hepatoblastoma, abdominal ultrasound and α-fetoprotein level testing are
recommended.
189. Hypertrophic Pyloric Stenosis Infantile hypertrophic pyloric stenosis presents with projectile, nonbilious
emesis and an olive-shaped abdominal mass. Prolonged vomiting causes a hypochloremic, hypokalemic metabolic
alkalosis. Treatment consists of intravenous rehydration and normalization of electrolytes prior to pyloromyotomy to
decrease the risk of postoperative apnea.

190. Foreign Body Ingestion When > 2 magnets are ingested and identified in the esophagus or stomach,
immediate endoscopic removal is required, even in asymptomatic patients, to prevent bowel entrapment, necrosis, and
perforation.
191. Reye Syndrome Reye syndrome presents with vomiting, encephalopathy, hepatic dysfunction, and
abnormal behavior leading to seizures and lethargy. Caregivers should avoid administering aspirin to children with viral
infection.
192. Hypertrophic Pyloric Stenosis Infantile hypertrophic pyloric stenosis is most common in first-born boys
age 3-5 weeks who are fed formula. Nonbilious, projectile vomiting causes dehydration and weight loss. Abdominal
ultrasonography confirms the diagnosis.

193. Biliary Cyst Biliary cysts are congenital or acquired dilatations of the biliary tree. They may be single
or multiple, and extrahepatic or intrahepatic. Abdominal pain, jaundice, and a palpable mass are characteristic findings.
Biliary cysts require surgical excision.

194. Reye Syndrome Reye syndrome is a dangerous complication in children who receive aspirin for virus-
induced fever. Hyperammonemia, transaminitis, coagulopathy, nausea, vomiting, hepatomegaly, and mental status
changes are typical manifestations of fulminant hepatic failure and encephalopathy.

195. Celiac Disease Celiac disease results in small intestinal malabsorption and can present with weight loss
and iron deficiency anemia. Common associations include type 1 diabetes and dermatitis herpetiformis.

196. Foreign Body Ingestion The ingestion of a sharp foreign body is associated with a high risk of perforation
and can be fatal. Endoscopic removal should be performed immediately when imaging confirms a sharp object in the
esophagus, stomach, or proximal duodenum.

197. Vitamin A Deficiency Suspect vitamin A deficiency in a 2 or 3-year-old child with impaired adaptation
to darkness, photophobia, dry scaly skin, xerosis conjunctiva, xerosis cornea, keratomalacia, Bitot spots and follicular
hyperkeratosis of the shoulders, buttocks, and extensor surfaces.

198. Iron Deficiency Anemia Full-term infants are born with adequate iron stores to prevent anemia for the first
4-6 months of life regardless of dietary intake. Preterm infants are at significantly increased risk for iron deficiency
anemia. Iron supplementation should be started at birth in exclusively breastfed preterm infants and continued until age 1
year. All exclusively breastfed infants should also be started on vitamin D supplementation.

199. Breastfeeding Breastfed infants have a decreased risk of developing otitis media; respiratory,
gastrointestinal, and urinary tract infections; and necrotizing enterocolitis. Breastfed infants also have lower rates of type 1
diabetes mellitus and childhood cancer. The only absolute infant contraindication to breastfeeding is galactosemia.

200. Neonatal Jaundice Physiologic jaundice of the newborn is a common, benign cause of indirect
hyperbilirubinemia on days 2-4 of life. Mechanisms include increased bilirubin production, decreased bilirubin clearance,
and increased enterohepatic recycling.

201. Necrotizing Enterocolitis Necrotizing enterocolitis should be suspected in newborns with

temperature instability, feeding intolerance, abdominal distension, and bloody stools. Risk factors include prematurity,
hypotension, and congenital heart disease. The hallmark x-ray finding is air within the bowel wall (pneumatosis
intestinalis).
202. Hirschsprung Disease Hirschsprung disease is due to failure of neural crest cell migration and presents
with failure to pass meconium within 48 hours after birth. Characteristic findings include complete bowel obstruction (e.g.
abdominal distension, absent rectal air) and increased tone with release of stool on rectal examination.

203. Cystic Fibrosis Meconium ileus should be suspected in newborns with failure to pass meconium, in
addition to bilious emesis and dilated loops of small bowel on imaging (i.e. terminal ileum obstruction). Most newborns
with meconium ileus have cystic fibrosis.

204. Volvulus Malrotation with midgut volvulus usually presents in neonates with bilious vomiting and
abdominal distension. Untreated volvulus can progress to frank bowel ischemia, bloody stools, and perforation. An upper
gastrointestinal contrast study is the gold standard for diagnosing malrotation.
205. Milk Protein Allergy Food protein-induced allergic proctocolitis should be suspected in a well-
appearing infant with painless, bloody stools. Symptoms resolve by eliminating maternal consumption of dairy and soy
products or switching to a hydrolyzed formula.

206. Intussusception Intussusception (i.e. telescoping bowel) is most common in children age 6-36 months and
causes episodic abdominal pain, currant jelly stools, and lethargy. A palpable, sausage-shaped abdominal mass is not
always present.
207. Necrotizing Enterocolitis Bilious emesis and abdominal distension in a preterm neonate are highly
suggestive of necrotizing enterocolitis. Abdominal x-ray findings include pneumatosis intestinalis (intramural air) and
portal venous air.

208. Cyclic Vomiting Syndrome In children, recurrent, self-limiting episodes of profuse vomiting and
nausea without an apparent cause suggests cyclic vomiting syndrome. Key historical features include a history of
identifiable triggers (e.g. stress, infection) or a personal/family history of migraines.

209. Intestinal Atresia Duodenal atresia is strongly associated with Down syndrome and presents with
bilious vomiting in the first 2 days of life and a 'double bubble' sign on abdominal x-ray. Treatment is surgical repair.

210. General Safety Concerns Airway foreign bodies are most common in toddlers due to mouthing
behaviors, increased mobility, and small airway diameter. Anticipatory guidance includes avoidance of foods that can
choke, including hot dogs, peanuts, whole grapes, and raw vegetables, until age 4.

211. Car Safety Seat Children should remain in a rear-facing car seat as long as possible and transition to a
forward-facing car seat only once they surpass the height or weight limit of their specific car seat, as determined by the
manufacturer. There is no absolute height, weight, or age that determines the transition.

212. Screening And Surveillance Early recognition and treatment of depression can prevent suicide, a
major cause of death in adolescents. Therefore, all adolescents age > 12 should be screened annually for depression.

213. Premature Infants Catch-up growth is a normal pattern of early, rapid growth in premature infants.
Growth typically stabilizes by age 2, and management is reassurance and routine follow-up.

214. Down Syndrome Hypotonia is a common finding in neonates with Down syndrome. Poor muscle
tone and a weak suck are key findings. Additional features of Down syndrome in newborns include upslanting palpebral
fissures, a protruding tongue, and a single palmar crease.

215. Kawasaki Disease Cardiac sequelae of Kawasaki disease include coronary artery aneurysms and
ventricular dysfunction. These complications are more common in infants and those with prolonged fevers or treatment
delay.
216. Kawasaki Disease Kawasaki disease presents with fever lasting > 5 days, in addition to
conjunctivitis, mucositis, rash, extremity edema, and cervical lymphadenopathy.

217. Developmental Milestones Disorders of speech (e.g. delayed articulation) and language (e.g.
receptive language delay) are often associated with hearing loss. The first step in management is a hearing test.

218. Neonatal Weight Loss Healthy infants normally lose up to 7% of birth weight in the first 5 days of life.
No treatment is required and exclusive breastfeeding should be continued. Birth weight should be regained by age 10-14
days.
219. Developmental Milestones Children age 9 months should be able to grasp objects, pull to stand,
babble, say some words, and respond to their name. Some separation anxiety is developmentally normal at age 9-18
months. Delayed verbal milestones should be assessed with an audiological evaluation.

220. Developmental Milestones By age 12 months, an infant's weight triples and height increases by 50%.
Developmental milestones include standing unassisted and learning to walk independently, using a 2-finger pincer grasp,
 saying 1 word other than 'mama' and 'dada', and following a 1-step command with a gesture.

221. Developmental Milestones A healthy 6-month-old infant should be able to sit momentarily on
propped hands, transfer objects between hands, and respond to name. Stranger anxiety also develops around this age.
Primitive Moro and grasp reflexes disappear before 6 months, but Babinski is typically still present.

222. Intraosseous Vascular Access Intraosseous lines can be placed rapidly when emergency access is
necessary and peripheral access cannot be obtained. Intraosseous access can be performed with less required skill and
patience than central venous access.

223. Epiglottitis Epiglottitis is most commonly due to Haemophilus influenzae type b, and incompletely
vaccinated individuals are at the highest risk. Manifestations include rapid onset of fever, sore throat, muffled voice,
drooling, and stridor.

224. Enuresis Bedwetting is normal before age 5. Mastery of nighttime continence can take months to
years, and boys generally achieve this milestone later than girls.

225. Post-Transplantation Lymphoproliferative Disorder Post-transplantation lymphoproliferative disorder

is a plasmacytic or lymphoid proliferation that occurs in those on high-dose immunosuppressive medications following
transplantation. Most cases are due to Epstein-Barr virus (EBV) and are marked by reticuloendothelial manifestations (e.g.
lymphadenopathy, hepatosplenomegaly, cytopenias) and elevated EBV titers.

226. Aplastic Anemia Pancytopenia with a low reticulocyte response indicates a bone marrow
condition, and peripheral blood smear and bone marrow evaluation are diagnostic. In aplastic anemia, peripheral smear
lacks normal-appearing cells and bone marrow is profoundly hypocellular with abundant fat cells.

227. Peutz-Jeghers Syndrome Peutz-Jeghers syndrome is a genetic condition characterized by

hyperpigmented mucocutaneous macules, gastrointestinal polyps that can bleed and cause iron deficiency anemia, and an
increased risk for malignancy. Upper and lower endoscopies are performed regularly to screen for polyps and cancer.

228. Sickle Cell Splenic sequestration is a potentially life-threatening complication of sickle cell disease,
an inherited red blood cell (RBC) disorder characterized by the presence of hemoglobin S on electrophoresis. RBCs
become entrapped within the spleen, causing acute anemia and tender splenomegaly.

229. Sickle Cell Splenic sequestration crisis is a life-threatening complication of sickle cell disease in
which red blood cells become entrapped within the spleen. Patients have anemia, splenomegaly, and hypovolemic shock.
Treatment focuses on the restoration of circulatory volume with intravenous fluids and packed red blood cell transfusion.

230. Sickle Cell Exchange transfusion is the treatment of ischemic stroke in patients with SCD. Replacing
sickled cells with healthy red blood cells increases oxygen-carrying capacity and improves hyperviscosity, thereby
limiting further occlusion.

231. Hemolytic Anemia Penicillins and cephalosporins can cause drug-induced immune hemolysis by
binding to the surface of red blood cells and triggering an IgG antibody response. Patients typically develop acute anemia
and signs of hemolysis (e.g. jaundice, dark urine) within hours of antibiotic administration.

232. Tumor Lysis Syndrome Spontaneous tumor lysis syndrome can occur in patients who have hematologic
malignancies with high tumor burden or rapid replication rate. It typically presents with acute renal failure due to the
formation of uric acid and calcium-phosphate stones and/or complications (e.g. cardiac arrhythmia) from hyperkalemia.

233. Hodgkin Lymphoma Prolonged fever and lymphadenopathy (particularly supraclavicular) are common
manifestations of Hodgkin lymphoma. Reed-Sternberg cells on lymph node biopsy are diagnostic.

234. Blood Transfusion Urticarial transfusion reactions are common and caused by preformed recipient
IgE antibodies reacting against a soluble allergen in the donated plasma (or vice versa). Patients have isolated urticaria that
 improves with transfusion cessation and diphenhydramine administration. If no signs of anaphylaxis are present (e.g.
wheeze, angioedema, hypotension), the transfusion can be resumed without additional evaluation.

235. G6PD Deficiency Glucose-6-phosphate dehydrogenase deficiency is an X-linked disorder

associated with episodes of hemolytic anemia during oxidative stress. In order to prevent hemolysis, oxidative medications
such as nitrofurantoin should be avoided.

236. Hemolytic Uremic Syndrome Treatment of infections due to Shiga toxin-producing Escherichia coli
O157:H7 is supportive care only. Antibiotics increase the risk of developing hemolytic uremic syndrome.

237. ITP Patients with chronic immune thrombocytopenia have platelets < 100,000/mm3 for > 1 year.
Splenectomy is an option for those with persistent bleeding and thrombocytopenia despite repeated pharmacologic
interventions (e.g. glucocorticoids, anti-D, intravenous immunoglobulin).

238. Hemophilias Inhibitor development occurs in 25% of patients with severe factor VIII deficiency. It
should be considered in a patient with bleeding refractory to replacement therapy or with increased bleeding frequency.

239. Thalassemia β-thalassemia major is characterized by increased hemoglobin A2 and hemoglobin F on

electrophoresis due to absent β globin expression. Patients are transfusion-dependent and at risk for iron overload.
Therefore, chelation therapy is required to improve survival.

240. Thalassemia The presence of γ tetramers (hemoglobin Barts) on hemoglobin analysis is consistent with
α-thalassemia. Laboratory studies typically reveal a microcytic anemia, an elevated erythrocyte count, and target cells on
peripheral smear.

241. Thalassemia Iron studies are performed prior to hemoglobin electrophoresis in patients with microcytic
anemia suspicious for iron deficiency (e.g. heavy menses, low erythrocyte count, reactive thrombocytosis) and
concomitant thalassemia (e.g. Greek origin, family history).

242. Hereditary Spherocytosis Hereditary spherocytosis (HS) is a genetic defect in red blood cell (RBC)
membrane proteins that results in sphere-shaped RBCs. HS should be suspected in a patient with jaundice, splenomegaly,
and a family history suggestive of hemolytic anemia requiring splenectomy. Laboratory findings include elevated
reticulocytes and mean corpuscular hemoglobin concentration and negative direct Coombs test.

243. Hereditary Spherocytosis Hereditary spherocytosis (HS) is an inherited disorder caused by a defect
in red blood cell membrane proteins, leading to spherocyte formation and hemolysis. Hemolytic anemia with an elevated
mean corpuscular hemoglobin concentration in an infant with prolonged neonatal jaundice is suggestive of HS.

244. Acute Lymphoblastic Leukemia Acute lymphoblastic leukemia often presents with bruising, petechiae,
and bleeding due to impaired platelet production in the bone marrow. Other common findings are nontender
lymphadenopathy and hepatosplenomegaly.

245. Acute Lymphoblastic Leukemia Bone pain and pancytopenia in a child are concerning for acute
lymphoblastic leukemia. Other characteristic findings include fever, pallor, bruising, and hepatosplenomegaly.

246. Neuroblastoma Neuroblastoma is a childhood malignancy derived from primitive sympathetic ganglia.
Classic presentation includes an abdominal mass and systemic symptoms (e.g. weight loss). Other characteristic features
include periorbital ecchymoses (i.e. orbital metastases) and opsoclonus-myoclonus syndrome.

247. Iron Deficiency Anemia Excessive cow's milk consumption (> 24 oz/day) commonly causes microcytic,
iron deficiency anemia with a low erythrocyte count and elevated red blood cell distribution width.

248. Thalassemia Thalassemia minor typically presents with microcytic anemia and a normal red cell
distribution width. An elevated reticulocyte count reflects a compensatory bone marrow response to the anemia.
249. Iron Deficiency Anemia Iron deficiency anemia is common in infants and toddlers who drink excessive
amounts of cow's milk. In addition to a decreased hemoglobin level, a low mean corpuscular volume and red blood cell
count are also seen. Treatment consists of empiric oral iron therapy.

250. Wiskott-Aldrich Syndrome Wiskott-Aldrich syndrome is an X-linked disorder characterized by the

triad of thrombocytopenia, eczema, and recurrent infections. The thrombocytopenia is the most consistent feature and is
characterized by a significant reduction in platelet volume and size.

251. Sickle Cell Hydroxyurea is used in patients with sickle cell disease to decrease pain crises, the need
for transfusions, and episodes of acute chest syndrome. The primary mechanism of action is an increase in fetal
hemoglobin, which dilutes the amount of sickle hemoglobin.

252. Polycythemia Polycythemia is defined as a hematocrit level > 65% in term neonates. Risk factors
include excessive transfusion, intrauterine hypoxia, and maternal diabetes. High blood viscosity limits organ perfusion and
can cause respiratory distress, hypoglycemia, and poor feeding.

253. Blood Transfusion Acute hemolytic transfusion reaction is an uncommon, life-threatening reaction
due to transfusion of mismatched blood (e.g. ABO incompatibility), which causes fever, flank pain, and hemoglobinuria
within 1 hour of transfusion initiation. Continued hemolysis can lead to acute renal failure, disseminated intravascular
coagulation, and shock.

254. Folic Acid Deficiency Sickle cell disease normally causes normocytic, hemolytic anemia with
compensatory reticulocytosis. Chronic hemolysis without adequate folic acid intake increases the risk for folate
deficiency, a macrocytic anemia with an inappropriately low reticulocyte count.

255. Sickle Cell Sickle cell disease is the most common cause of pediatric stroke, and diagnosis can be
confirmed by hemoglobin electrophoresis.

256. Aplastic Anemia Fanconi anemia is the most common cause of congenital bone marrow failure and
is due to defective DNA repair. In addition to pancytopenia, characteristic features include short stature, thumb anomalies,
and abnormal skin pigmentation.

257. Splenectomy Howell-Jolly bodies are nuclear remnants within red blood cells typically removed by the
spleen. Their presence strongly suggests asplenia or functional hyposplenism.

258. Sickle Cell Pneumococcal vaccination plus penicillin prophylaxis can prevent almost all cases of
pneumococcal sepsis in patients with sickle cell anemia.

259. Sickle Cell Osteonecrosis, or avascular necrosis, is a common complication of sickle cell disease.
Patients typically report chronic groin, thigh, or buttock pain without warmth or erythema of the joints, leukocytosis, or
elevated inflammatory markers.

260. Hemophilias Hemophilic arthropathy is a consequence of recurrent hemarthroses and is associated with
hemosiderin deposition leading to synovitis and fibrosis within the joint. The risk of hemophilic arthropathy is reduced by
prophylactic treatment with factor concentrates.

261. Cystic Fibrosis Patients with cystic fibrosis are at risk for fat-soluble vitamin (i.e. A, D, E, and K)
deficiency due to fat malabsorption from pancreatic insufficiency. Vitamin K is an important cofactor in the activation of
coagulation factors II, VII, IX, and X. Vitamin K deficiency leads to easy bruising, mucosal bleeding, and prolonged
prothrombin time.

262. Hemolytic Uremic Syndrome Hemolytic uremic syndrome typically occurs in children who have
recently recovered from a diarrheal illness and who have acute renal injury, thrombocytopenia, and microangiopathic
hemolytic anemia with schistocytes on peripheral smear.
263. Sickle Cell Patients with sickle cell disease can develop aplastic crises characterized by an acute drop
in hemoglobin, a reticulocyte count < 1%, and no splenomegaly. Parvovirus B19 is the most common cause.

264. Neuroblastoma Neuroblastoma arises from neural crest cells, which are precursors to the sympathetic
ganglia and adrenal medulla. Neuroblastoma arising in the cervical paravertebral sympathetic chain can present as isolated
Horner syndrome (i.e. ptosis, miosis, anhidrosis).

265. Aplastic Anemia Diamond-Blackfan anemia is a congenital, pure red cell aplasia characterized by
macrocytic anemia and several congenital abnormalities, such as cleft palate, webbed neck, and triphalangeal thumbs.

266. Sickle Cell Most patients with sickle cell trait lead normal, healthy lives. Painless hematuria is the
most common complication.

267. Sickle Cell Hydroxyurea, which works by increasing fetal hemoglobin levels, is indicated in patients
with sickle cell disease who have frequent vaso-occlusive crises. It is a relatively safe therapy with a dose-limiting side
effect of myelosuppression (neutropenia, anemia, thrombocytopenia).

268. Sickle Cell Dactylitis can be the earliest manifestation of vaso-occlusive disease in sickle cell disease
and presents with the acute onset of bilateral hand and foot swelling and tenderness.

269. Preterm Newborn Anemia of prematurity is the most common cause of anemia in preterm infants. It
is due to diminished erythropoietin levels, shortened red blood cell life span, and blood loss. Laboratory studies show
decreased hemoglobin and hematocrit and a relatively low reticulocyte count.

270. Sickle Cell Splenic sequestration crisis, or pooling of red blood cells in the spleen, in sickle cell
disease presents with signs of severe, acute anemia (e.g. tachycardia, pallor, shock) and splenomegaly in young patients.
Laboratory testing demonstrates normocytic anemia, reticulocytosis, and thrombocytopenia.

271. Sickle Cell Howell-Jolly bodies are nuclear remnants of red blood cells that are usually removed by a
functional spleen. Due to functional asplenia in sickle cell patients, Howell-Jolly bodies are expected findings on
peripheral smear.

272. ITP Immune thrombocytopenia typically presents with isolated thrombocytopenia after a viral
infection. Children with isolated cutaneous symptoms (e.g. petechiae) usually recover spontaneously and require
observation alone, regardless of platelet count. Those with bleeding should receive glucocorticoids, anti-D, or intravenous
immunoglobulin.

273. Hemolytic Uremic Syndrome Hemolytic uremic syndrome is characterized by the triad of hemolytic
anemia, thrombocytopenia, and acute kidney injury. Presentation typically occurs after resolution of prodromal diarrhea
caused by Escherichia coli O157:H7 or, less commonly, Shigella.

274. Hemolytic Uremic Syndrome Hemolytic uremic syndrome, which is most commonly caused by a Shiga
toxin-producing strain of Escherichia coli (serotype O157:H7), is characterized by microangiopathic hemolytic anemia,
thrombocytopenia, and acute kidney injury.

275. Acute Lymphoblastic Leukemia Acute lymphoblastic leukemia is the most common cancer in children
and presents with signs of bone marrow failure. The presence of > 25% lymphoblasts in the bone marrow confirms the
diagnosis.
276. Hereditary Spherocytosis Hereditary spherocytosis, caused by a defect of red blood cell membrane
proteins, often presents with refractory jaundice and splenomegaly on examination and laboratory evidence of a hemolytic
anemia with an increased mean corpuscular hemoglobin concentration.

277. Aplastic Anemia Aplastic anemia should be suspected in any patient with pancytopenia following
drug intake, radiation exposure, or viral infection. Bone marrow will demonstrate profound hypocellularity with fatty
infiltration.
278. Vitamin K Deficiency Vitamin K-deficient bleeding classically presents with bleeding in newborns (day
2-7 of life) who did not receive intramuscular vitamin K, which is essential in the enzymatic carboxylation and activation
of coagulation factors II (prothrombin), VII, IX, and X. Symptoms include easy bruising, mucosal bleeding,
gastrointestinal bleeding, and/or intracranial hemorrhage; laboratory evaluation reveals prolonged PT with or without
prolonged PTT.
279. Iron Deficiency Anemia The characteristic laboratory findings of iron deficiency anemia are decreased
mean corpuscular volume (MCV), increased red blood cell distribution width (RDW), decreased serum iron, decreased
transferrin saturation, and increased total iron binding capacity (TIBC). The peripheral smear will show small,
hypochromic red blood cells.

280. Hereditary Spherocytosis Hereditary spherocytosis typically manifests as a triad of Coombs-

negative hemolytic anemia, jaundice, and splenomegaly. It should be suspected in patients with reticulocytosis,
hyperbilirubinemia, spherocytosis, and family history of anemia. Eosin-5-maleimide binding and acidified glycerol lysis
tests are diagnostic.

281. Acute Lymphoblastic Leukemia Acute lymphoblastic leukemia is most commonly seen in boys age 2-5
and presents with anemia, thrombocytopenia, and a normal or elevated white blood cell count. The presence of blasts on
peripheral smear and bone marrow biopsy is characteristic.

282. Hemophilias Hemarthrosis after minor trauma is suspicious for a bleeding disorder (e.g. hemophilia),
and coagulation studies should be obtained. Hemophilia presents with a prolonged PTT, normal PT, and normal platelet
count.
283. Toxoplasmosis Chorioretinitis, or inflammation and scarring of the retina and choroid, is typically caused
by chronic infection (e.g. Toxoplasma gondii, cytomegalovirus). Congenital toxoplasmosis is the most common etiology,
and additional findings include macrocephaly (due to hydrocephalus), hepatosplenomegaly, and seizures.

284. Syphilis Congenital syphilis classically causes a nonblanching, maculopapular rash in the neonatal
period that involves the palms and soles. Evaluation begins with rapid plasma reagin testing. A high index of suspicion is
required because primary maternal infection in pregnancy may lead to falsely reassuring negative screening.

285. Tuberculosis Young children with latent tuberculosis (TB) are at high risk for progression to active TB
and may have negative testing (e.g. tuberculosis skin test) due to a limited initial immune response. Therefore, treatment
of latent TB should be initiated in patients age < 5 with close contacts with active TB, regardless of initial screening test
results.
286. Community Acquired Pneumonia Community-acquired pneumonia in school-aged children is
frequently due to atypical bacteria such as Mycoplasma pneumoniae. The presentation is generally mild and often includes
fever, prolonged cough, and bilateral crackles on lung examination.

287. Mycoplasma Mycoplasma pneumoniae is a common cause of community-acquired pneumonia (CAP).

Patients typically present with slow-onset malaise, cough, dyspnea, and fever. In contrast to other many forms of bacterial
CAP, patients with Mycoplasma pneumonia typically have patchy or reticulonodular bilateral pulmonary infiltrates (rather
than lobar infiltrate). Treatment with azithromycin is first-line; β-lactams are ineffective because the organism lacks a cell
wall.
288. Rocky Mountain Spotted Fever Rocky Mountain spotted fever typically presents with 3-4 days of
nonspecific symptoms followed by a characteristic rash. The rash often begins as maculopapular lesions on the wrists and
ankles, involves the palms/soles, and then spreads centrally; it usually evolves to petechial lesions over time.
Thrombocytopenia, elevated aminotransferases, and hyponatremia are important laboratory clues. Empiric doxycycline
should be initiated while awaiting confirmation with serology.

289. Tuberculosis Miliary tuberculosis is caused by lymphohematogenous dissemination of Mycobacterium

tuberculosis from the lungs to other organs, resulting in micronodular lesions in the lungs, liver, and spleen. It is most
common among infants and immunocompromised hosts with poor T-cell function and is often associated with false-
negative tuberculosis test results.
290. Tuberculosis Primary pulmonary tuberculosis (TB) should be suspected in children with chronic cough
and characteristic chest x-ray findings (e.g. hilar lymphadenopathy, consolidation, pleural effusion), particularly if they
have risk factors for TB exposure (e.g. homeless shelter).

291. Group B Streptococcal Infection Streptococcus agalactiae (group B Streptococcus) are gram-positive cocci
in pairs and chains on culture. It can cause early-onset neonatal sepsis or late-onset disease in young infants. Late-onset
infection most commonly presents at age 4-5 weeks with bacteremia, meningitis, and/or focal infection (e.g. cellulitis-
adenitis).
292. Molluscum Contagiosum Molluscum contagiosum, a benign skin infection common in children,
presents with flesh-colored papules with central umbilication. Lesions resolve within 6-12 months. Management is
typically reassurance and observation.

293. HIV Acute HIV infection often causes unexplained fever, maculopapular rash, and aseptic meningitis.
It should be suspected in sexually active or high-risk patients when more common causes of these symptoms have been
excluded.
294. Listeria Listeria monocytogenes can cause severe infection (e.g. bacteremia) in pregnant women, cross the
placenta, and lead to early-onset neonatal sepsis. Symptoms of neonatal sepsis are often nonspecific and include lethargy,
poor perfusion, and respiratory distress.

295. Amebiasis Travel-associated diarrhea lasting > 2 weeks is most commonly parasitic, and Entamoeba
histolytica infection should be suspected in returning travelers with prolonged bloody diarrhea.

296. Group B Streptococcal Infection Group B Streptococcus is the most common pathogen in early-onset
neonatal pneumonia. Symptoms include respiratory distress (e.g. retractions, tachypnea) and hypoxia, and chest x-ray
shows diffuse alveolar opacities, often with pleural effusions.

297. Meningococci Purpura is a late manifestation of meningococcal meningitis and suggests disseminated
intravascular coagulation (DIC), which is characterized by clotting factor and platelet consumption. Laboratory evidence
of DIC includes thrombocytopenia, elevated PT and PTT, and low fibrinogen.

298. Meningitis Antimicrobial chemoprophylaxis against Neisseria meningitidis is indicated for close
contacts (regardless of vaccination status) who have had exposure during the 7 days before symptom onset until 24 hours
after appropriate antibiotic initiation. Medication regimens include rifampin, ciprofloxacin, or ceftriaxone and should be
given as soon as possible.

299. Meningitis Neisseria meningitidis reproduces primarily in the nasopharynx, and infectious particles
are readily aerosolized through coughing and respiratory procedures. Droplet precautions should be ordered for all
potentially infected patients until they have been treated with antibiotics for 24 hours.

300. Encephalitis Viral encephalitis typically presents with altered mental status in addition to fever,
headache, seizure, and focal neurologic findings. Temporal lobe abnormalities and edema are highly suggestive of herpes
simplex virus encephalitis.

301. Otitis Media Risk factors for developing acute otitis media include young age (6-18 months), lack of
breastfeeding, day care attendance, and passive smoke exposure.

302. Otitis Media Acute otitis media with tympanic membrane (TM) perforation typically presents with
acute otalgia, otorrhea, and an erythematous and perforated TM. Amoxicillin is first-line therapy; amoxicillin-clavulanate
is indicated in a patient who has received amoxicillin within the past 30 days.

303. Acute Diarrhea Norovirus is the most common gastroenteritis in the United States and is often implicated
in outbreaks on cruise ships and in schools. Patients develop vomiting, watery diarrhea, and abdominal pain 1-2 days after
exposure. Treatment is supportive, and symptoms generally resolve within 2-3 days.
304. Acute Diarrhea Campylobacter gastroenteritis is most commonly caused by undercooked poultry and
presents with fever, abdominal pain, and mucus-filled (sometimes bloody) diarrhea. Disease is typically mild and self-
limited, requiring symptomatic care only.

305. Acute Diarrhea Travelers' diarrhea is a generally mild, self-limited illness that presents acutely with
watery diarrhea and abdominal pain in a patient who has traveled to a resource-limited area with poor sanitation.
Enterotoxigenic Escherichia coli is the most common etiology.

306. Acute Diarrhea Bacterial gastroenteritis should be suspected in a patient with fever, abdominal cramping,
and bloody or mucoid diarrhea. Positive stool culture is diagnostic, and treatment is generally supportive care and close
follow-up in well-appearing children. Empiric antibiotics are not recommended due to the increased risk of hemolytic
uremic syndrome associated with Escherichia coli O157:H7.

307. Bronchiolitis Bronchiolitis is a viral lower respiratory tract infection that presents in children age < 2
with cough, congestion, diffuse wheezes/crackles, and respiratory distress. Diagnosis is clinical, and treatment is
supportive (e.g. nasal saline and suctioning).

308. Lymphadenopathy Acute, unilateral cervical lymphadenitis in children typically presents with an
erythematous, tender, warm lymph node, as well as possible fever and fluctuance. Anaerobes are often the causative
organisms in patients with a history of periodontal disease or dental caries via local spread of bacteria.

309. Neonatal Sepsis Neonatal sepsis typically causes nonspecific symptoms, including irritability, poor
feeding, and lethargy. An abnormal leukocyte count is common. Empiric therapy is intravenous ampicillin and gentamicin
to treat the most common pathogens, including group B Streptococcus, Escherichia coli, and Listeria monocytogenes.

310. Pertussis Pertussis is a highly contagious infection characterized by a whooping cough. Infants are
at high risk of life-threatening apnea and cyanosis. Empiric antibiotics (e.g. azithromycin) reduce transmission and, in
some cases, may shorten illness duration.

311. Sinusitis Untreated acute bacterial rhinosinusitis can lead to intracranial extension of infection,
such as brain abscess. Symptoms include focal headache, early-morning vomiting, altered mental status, and/or focal
neurologic changes. Urgent CT scan of the head reveals a ring-enhancing lesion.

312. Acute Diarrhea Gastroenteritis caused by Shigella sonnei presents acutely with high fever, abdominal
cramping, and mucoid and/or bloody diarrhea. It may be associated with seizures in children.

313. Chicken Pox Postexposure prophylaxis is indicated for newborns born to mothers with varicella
developing 5 days before to 2 days after delivery. Prophylaxis is achieved by administering varicella-specific
immunoglobulin to the infants, who are too young to receive live varicella-zoster virus vaccine.

314. Acute Diarrhea Nontyphoidal Salmonella is a common cause of bacterial foodborne illness in the United
States. Most cases arise from undercooked poultry or improperly refrigerated food. Symptoms usually begin within 3 days
and include fever, vomiting, diarrhea, and abdominal pain.

315. Cytomegalovirus Characteristic features of congenital cytomegalovirus (CMV) infection include

microcephaly and periventricular calcifications. Pregnant women most commonly acquire CMV through contact with
infected body fluids (e.g. saliva) and transmit the infection vertically to the fetus via placental transfer.

316. Immunizations The prevalence of measles has been reduced drastically by measles-mumps-rubella
vaccination. The vaccine has an excellent safety profile, but within 1-3 weeks after immunization a small fraction of
patients may develop a fever and mild rash that resolve without treatment.

317. Immunizations The varicella-zoster virus vaccine is recommended for all children at ages 1 and 4 to
prevent primary varicella infection. The live-attenuated vaccine virus can cause a varicella-like rash that is mild but
contagious.
318. Bartonella Cat-scratch disease, caused by Bartonella henselae, most commonly presents with a mild
papular or nodular skin lesion and ipsilateral lymphadenitis of gradual onset. These symptoms in the setting of cat
exposure are sufficient to make a clinical diagnosis of cat-scratch disease.

319. Herpangina Herpangina is caused by Coxsackie virus infection. It typically presents with fever and
oropharyngeal vesicles and ulcers on the posterior soft palate, palatine pillars, tonsils, and uvula.

320. Retropharyngeal Abscess Retropharyngeal abscess in children presents with fever, dysphagia,
muffled voice, and pain with neck extension. Lateral neck soft-tissue x-rays will show a widened prevertebral space.

321. Brain Abscess Brain abscess in children frequently presents with headache, fever, focal neurologic
deficits, and seizure. Cyanotic congenital heart disease is a risk factor for brain abscess due to hematogenous spread of
bacteria.
322. Syphilis Congenital syphilis presents with nonspecific signs of congenital infection (jaundice,
hepatosplenomegaly, blueberry muffin spots, and growth restriction). More specific findings that are highly suggestive of
congenital syphilis include snuffles (copious rhinorrhea) and a maculopapular rash that may desquamate or become
bullous.
323. Sinusitis Acute bacterial rhinosinusitis should be considered in children with cough or nasal
discharge/congestion that persists for > 10 days without improvement. The 2 most common risk factors are viral upper
respiratory infections and allergic rhinitis.

324. Orbital Cellulitis Orbital cellulitis can be differentiated from preseptal cellulitis by the presence of
pain with extraocular movements, visual changes, proptosis, or ophthalmoplegia. Orbital cellulitis is a severe infection that
can lead to permanent visual impairment or intracranial complications (e.g. infection, thrombosis).

325. Lymphadenopathy Acute, unilateral cervical lymphadenitis is an infection in children age < 5
characterized by an enlarged, markedly tender, warm, erythematous cervical node. Empiric antibiotic therapy (e.g.
clindamycin) should target the most common bacteria, including Staphylococcus aureus, Streptococcus pyogenes, and
anaerobes.
326. Meningitis The most common causes of viral meningitis are enteroviruses, such as group B
coxsackievirus. Cerebrospinal fluid analysis shows mild pleocytosis with lymphocytic predominance, normal to slightly
elevated protein, and normal glucose.

327. Rabies Rabies is a fatal, neurotropic viral disease transmitted to humans by exposure to saliva from an
infected animal through a bite. Paresthesia of the bite wound is characteristic, and after an incubation period of 1-3
months, patients develop encephalopathy, dysautonomia, and hydrophobia, followed by coma and death.

328. Rubella Congenital rubella syndrome presents with cataracts, patent ductus arteriosus, and sensorineural
hearing loss. Infection is best prevented by vaccination prior to conception.

329. Lyme Disease Ticks should be removed with a small forceps as soon as possible to reduce the risk of a
tickborne illness. If the tick is attached for < 36 hours, antimicrobial prophylaxis (e.g. single-dose doxycycline) for Lyme
disease is not required.

330. Lymphadenopathy Staphylococcus aureus and Streptococcus pyogenes are the most common causes
of acute, unilateral cervical lymphadenitis in children. Affected nodes are enlarged, erythematous, and markedly tender.
Suppuration is common.

331. Lymphadenopathy Palpable cervical lymph nodes are common in children and young adults. In the
absence of worrisome features (e.g. > 2 cm, firm, immobile lymph nodes; systemic symptoms), palpable lymph nodes can
be observed for resolution.

332. Meningitis Meningococcal meningitis presents most commonly in teens and young adults with an
abrupt onset of rapid progression of fever, headache, myalgias, petechial rash, nuchal rigidity, and shock. Cerebrospinal
 fluid shows evidence of bacterial meningitis (e.g. low glucose, high protein, neutrophilic leukocytosis).

333. Herpes Zoster All nonimmune, asymptomatic, healthy patients age > 1 year with varicella exposure
should receive postexposure prophylaxis with the varicella vaccine. At-risk patients who cannot receive the varicella
vaccine should receive varicella immunoglobulin instead.

334. Scarlet Fever Scarlet fever is caused by group A Streptococcus (S. pyogenes) and presents with fever,
pharyngitis, circumoral pallor, strawberry tongue, and rash. The classic 'sandpaper' rash is prominent along skin folds (e.g.
axillae, groin) and often results in desquamation.

335. Pertussis Macrolides (e.g. azithromycin) are the first-line medications for pertussis treatment and
postexposure prophylaxis. All close and high-risk contacts should be given prophylaxis regardless of immunization status.

336. Pertussis Pertussis should be suspected with paroxysmal cough and post-tussive emesis, even if
patients are fully immunized. Vaccination reduces infection risk but immunity wanes over 5-10 years.

337. Lyme Disease A monoarticular effusion of the knee in an adolescent is most often caused by trauma,
bacterial infection, or inherited blood disorder. Less common causes include late Lyme disease, juvenile arthritis, and
serum sickness, all of which are typically accompanied by a preceding/ongoing rash.

338. Cystic Fibrosis Staphylococcal aureus is the most common pathogen isolated in infants and young
children with cystic fibrosis (CF). Pseudomonas aeruginosa is the most common cause of CF-related pneumonia in adults
and contributes to life-threatening decline in pulmonary function.

339. Intestinal Helminth Parasites Pinworm infection typically presents with nocturnal perianal pruritus and
can cause vulvar and perianal erythema. Diagnosis is confirmed by visualization of eggs and/or pinworms on the 'tape
test'. Treatment is with albendazole or pyrantel pamoate.

340. Tetanus Neonatal tetanus can occur in infants born to unimmunized mothers, frequently following
umbilical stump infection. Affected infants present in the first few weeks of life with trismus, spasms, and hypertonicity.
Treatment includes antibiotics and tetanus immune globulin.

341. Toxoplasmosis Congenital toxoplasmosis classically presents with diffuse intracerebral calcifications and
ventriculomegaly. Maternal acquisition of toxoplasmosis is most commonly due to ingestion of cat feces or raw or
undercooked meat.

342. Meningitis Group B Streptococcus (GBS) is the most common cause of neonatal sepsis. Prevention
of early onset GBS infection includes maternal screening before delivery and prophylaxis with intrapartum antibiotics, but
these measures do not decrease the risk of late-onset (> 7 days) GBS sepsis.

343. HIV HIV infection in infancy presents with failure to thrive, lymphadenopathy, and opportunistic
infections (e.g. Pneumocystis pneumonia, severe thrush). Selective loss of CD4+ cells is suggestive of HIV, and PCR
reaction testing confirms the diagnosis.

344. Rubella Maternal-fetal transmission of the rubella virus is most teratogenic during the first trimester. The
classic triad of congenital rubella syndrome includes sensorineural hearing loss, cardiac defects (e.g. patent ductus
arteriosus), and cataracts.

345. Neonatal Conjunctivitis Gonococcal conjunctivitis occurs in infants born to untreated mothers and
presents at age 2-5 days with severe conjunctivitis that can ulcerate, scar, and blind without prompt treatment.
Prophylactic erythromycin ophthalmic ointment administered shortly after birth is highly effective in preventing
gonococcal conjunctivitis.
346. Skin And Soft Tissue Infections Nonbullous impetigo is characterized by papules and pustules with
overlying honey-colored crusting. Topical antibiotics (e.g. mupirocin) are the treatment of choice for localized infection.

347. Sickle Cell Sickle cell disease (SCD) causes functional asplenia due to recurrent splenic infarction.
Therefore, patients are at risk of overwhelming infection with encapsulated organisms and should receive vaccination and
penicillin prophylaxis. Pneumococcus remains the most common cause of sepsis in patients with SCD.

348. Meningitis Bacterial meningitis in infants presents with fever and signs of meningeal irritation as
well as increased intracranial pressure. Lumbar puncture should be performed promptly to diagnose and properly manage
bacterial meningitis.

349. Intestinal Helminth Parasites Enterobius vermicularis (pinworm) infection is highly contagious and
manifests as nocturnal perianal pruritus. First-line treatment is with pyrantel pamoate or albendazole.

350. Infectious Mononucleosis Acute airway obstruction is a rare but potentially fatal complication of
infectious mononucleosis. Patients have dysphagia and respiratory distress, with examination findings of marked
oropharyngeal inflammation and severe tonsillar enlargement. Treatment includes corticosteroids.

351. Septic Arthritis Septic arthritis should be suspected when a patient has acute fever, joint pain, inability to
bear weight, elevated erythrocyte sedimentation rate, and leukocytosis. Emergency surgical drainage and intravenous
antibiotics are needed to prevent permanent joint destruction.

352. Sickle Cell Staphylococcal aureus and Salmonella are the most common causes of osteomyelitis in
children with sickle cell disease. Therefore, empiric antibiotics should include antistaphylococcal (e.g. clindamycin) and
gram-negative (e.g. ceftriaxone) coverage.

353. Pertussis Bordetella pertussis causes whooping cough, a vaccine-preventable disease characterized
by severe coughing episodes, which are often associated with post-tussive emesis and an inspiratory whoop. Physical
examination may reveal evidence of increased capillary pressure (e.g. facial petechiae, subconjunctival hemorrhage).

354. Infectious Mononucleosis Infectious mononucleosis is most commonly caused by the Epstein-Barr
virus and presents with fever, malaise, exudative pharyngitis, cervical lymphadenopathy, and hepatosplenomegaly. A
polymorphous, maculopapular rash frequently develops after administration of amoxicillin but does not represent a true
drug allergy.
355. Rheumatic Fever Acute rheumatic fever is a complication of untreated Streptococcus pyogenes
pharyngitis. Major clinical features include carditis, chorea, erythema marginatum, subcutaneous nodules, and migratory
arthritis.
356. Adrenal Insufficiency In an infant with meningococcemia, watch out for Waterhouse-Friderichsen
syndrome, which is characterized by a sudden vasomotor collapse and skin rash due to adrenal hemorrhage.

357. Meningitis Meningococcal meningitis is a common cause of bacterial meningitis in children and
classically presents with fever, lethargy, nuchal rigidity, and petechiae/purpura. Symptoms progress rapidly (over 12-24
hours), and the disease can be complicated by shock, multiorgan failure, disseminated intravascular coagulation, and
death.
358. Malaria Malaria should be suspected in any ill patients, especially those with a history of febrile
paroxysms, who have traveled to an endemic-tropical region. Thick and thin blood smears should be ordered for parasite
detection and quantification. Nonimmune children are at highest risk of death, but the sickle cell trait confers some
protection from severe complications.

359. Preseptal Cellulitis Preseptal cellulitis is an infection located anterior to the orbital septum. In
contrast to orbital cellulitis, preseptal cellulitis does not involve orbital fat to extraocular muscles, and therefore does not
cause visual changes, ophthalmoplegia, painful eye movements, or proptosis.
360. Laryngotracheobronchitis Croup is a viral illness most commonly caused by parainfluenza virus. It
presents with fever, hoarseness, inspiratory stridor, and a harsh, barking, seal-like cough.

361. Sinusitis Nontypeable Haemophilus influenzae, Streptococcus pneumoniae, and Moraxella

catarrhalis are the most common bacterial causes of acute bacterial rhinosinusitis, which commonly presents with > 10
days of persistent nasal discharge and cough.

362. Rubella Rubella is a mild illness that presents with low-grade fever, a maculopapular rash with
cephalocaudal spread, and posterior auricular and suboccipital lymphadenopathy. Adolescents and adults, especially
females, may also have arthralgias and/or arthritis that can persist after the rash resolves.

363. Acute Diarrhea Staphylococcal aureus causes foodborne illness due to the ingestion of preformed toxins.
Vomiting is the pre-eminent symptom and usually begins 1-6 hours after exposure. Diarrhea may or may not be present.
Colonized food handlers usually transmit S. aureus to food during preparation.

364. Measles The treatment of measles is supportive; however, vitamin A reduces morbidity and
mortality rates in children with severe measles and should be administered to hospitalized patients.

365. Mumps Mumps presents with fever and parotitis. Although mumps is generally self-limited,
complications can include orchitis, aseptic meningitis, pancreatitis, and deafness. Complications are more common in
older or unvaccinated individuals.

366. Infectious Mononucleosis Infectious mononucleosis is characterized by prolonged fever,

pharyngitis, fatigue, lymphadenopathy, and splenomegaly. Sports (especially contact sports) should be avoided for at least
3-4 weeks due to the risk of splenic rupture.

367. Osteomyelitis Osteomyelitis is a bacterial infection of the bone that typically presents with fever and
focal bony pain. Infection is most often caused by hematogenous spread of Staphylococcus aureus.

368. Hepatitis B Newborns of mothers of hepatitis B virus (HBV) infection should receive passive
immunization with hepatitis B immune globulin and active immunization with HBV vaccine within 12 hours of birth.

369. Rubella Rubella is a mild illness characterized by low-grade fever, lymphadenopathy (particularly
suboccipital, posterior auricular, and posterior cervical), and a maculopapular exanthem that spreads cephalocaudally.
Forchheimer spots (erythematous papules on the soft palate) may be seen.

370. Measles Measles is characterized by a prodrome of cough, coryza, and conjunctivitis followed by
a maculopapular rash that spreads in a cephalocaudal pattern. This highly contagious infection is transmitted by the
airborne route.
371. Herpes Zoster Varicella (chickenpox) is characterized by successive crops of intensely pruritic vesicles.
The disease is usually self-limiting and has been significantly reduced in the United States by widespread immunization
with a 2-dose series.

372. Septic Arthritis Septic arthritis should be suspected in children with acute onset of fever and joint pain
and swelling. Management includes arthrocentesis, empiric parenteral antibiotics, and prompt surgical drainage.

373. Measles The prodrome of measles includes fever, cough, coryza, and nonpurulent conjunctivitis.
Koplik spots, small white lesions on the buccal mucosa, may also develop and are pathognomonic of measles. Following
the prodrome, a maculopapular rash appears on the face and spreads in a cephalocaudal and centrifugal pattern.

374. Neonatal Sepsis Neonatal sepsis and meningitis present with nonspecific symptoms, including irritability,
temperature instability (fever or hypothermia), poor feeding, and lethargy. In hemodynamically stable neonates with
suspected sepsis, blood, urine, and cerebrospinal fluid, cultures should be obtained followed by administration of empiric
antibiotics.
375. Pharyngitis Group A Streptococcus (GAS) pharyngitis presents with fever, tonsillar exudates, and
tender anterior cervical lymphadenopathy. Unlike in adults, GAS pharyngitis in children should always be confirmed by
rapid streptococcal antigen testing or throat culture prior to initiation of antibiotics. Penicillin and amoxicillin are the
preferred treatment options.

376. Mucocutaneous Candidiasis Balanitis (i.e. inflammation of the glans penis) is common in
uncircumcised toddlers due to poor genital hygiene. Candida albicans infection should be considered when thick, white
discharge is present, and budding yeast on potassium hydroxide microscopy confirms the diagnosis. Treatment includes
proper hygiene and a topical antifungal.

377. Penile Injury Hematuria in the setting of direct penile trauma is concerning for urethral injury and
should prompt retrograde urethrography.

378. Cryptorchidism Intra-abdominal testicular torsion should be suspected in a patient with cryptorchidism
and an acute abdomen. Infants may have irritability, inconsolable crying, and pain with abdominal palpation.

379. Congenital Adrenal Hyperplasia Congenital adrenal hyperplasia is most commonly due to 21-hydroxylase
deficiency, which results in decreased cortisol and increased 17-hydroxyprogesterone and androgen production. Excess
androgen leads to virilization (e.g. underdeveloped phallus, hypospadias) in female (46,XX) infants.

380. Hypospadia and Epispadia Hypospadias is characterized by a ventrally displaced urethral opening
and dorsal hooded foreskin. Urologic evaluation is required prior to circumcision because the foreskin may be needed for
hypospadias repair, and conventional circumcision techniques may be unsafe.

381. Hypospadia and Epispadia Severe hypospadias is characterized by a urethral meatus located at the
perineum or scrotum, an underdeveloped penis/glans, and severe penile curvature. This condition may be indicative of a
disorder of sex development and warrants karyotype analysis and pelvic ultrasound.

382. Cryptorchidism Cryptorchidism, or an undescended testis, is ideally corrected with orchiopexy by age 1
year to reduce the risk of complications (e.g. infertility, testicular torsion, testicular malignancy). However, even after
surgery, the risk of testicular germ cell tumor remains elevated compared to the general population.

383. Hydrocele Newborn hydroceles typically present with painless scrotal swelling that transilluminates
on examination. Management includes observation and reassurance, as most cases resolve spontaneously by age 1 year.

384. Patient Safety The Plan-Do-Study-Act and Plan-Do-Check-Act paradigms are quality improvement
tools. They are 4-step cyclical processes with the goal of continual improvement.

385. Choanal Atresia CHARGE syndrome (coloboma, heart defects, atresia choanae, retardation of
growth/development, and genitourinary and ear abnormalities) is associated with defects in CHD7 and can be diagnosed
clinically in the newborn period.

386. Turner Syndrome Short stature, amenorrhea, and aortic coarctation are features of Turner syndrome.
Patients are at increased risk of osteoporotic fracture due to estrogen deficiency from ovarian dysgenesis.

387. Turner Syndrome Characteristic features of Turner syndrome include webbed neck, horseshoe
kidney, and nail dysplasia. Congenital lymphedema occurs due to dysgenesis of the lymphatic system and presents at birth
with non-pitting carpal and pedal edema.

388. Sexually Transmitted Infection Screening Sexually active women age < 25 are at increased risk of
sexually transmitted infections and require annual screening for Chlamydia trachomatis and Neisseria gonorrhoeae.

389. Friedreich Ataxia Friedreich ataxia is a neurodegenerative disorder that classically presents in
adolescents with progressive ataxia and dysarthria. The most common cause of death is cardiac dysfunction (e.g.
 arrhythmia, congestive heart failure) due to hypertrophic cardiomyopathy.

390. Amenorrhea Kallmann syndrome is a disorder of migration of fetal GnRH and olfactory neurons that
results in delayed puberty (i.e. primary amenorrhea) and anosmia. Due to the lack of GnRH secretion, patients have
hypogonadotropic hypogonadism (low FSH). In these patients, karyotype (genotype) is consistent with phenotype.

391. Precocious Puberty McCune-Albright syndrome is characterized by peripheral precocious puberty,

irregular café-au-lait macules, and polyostotic fibrous dysplasia (e.g. recurrent fractures).

392. Prader-Willi Syndrome The main features of Prader-Willi syndrome are hypotonia, hyperphagia, and
obesity. Patients are at risk for sleep apnea, type 2 diabetes mellitus, and gastric rupture.

393. Marfan Syndrome Marfan syndrome is an autosomal dominant disorder that results from mutations
of the fibrillin-1 gene. Affected patients have tall stature; long, thin extremities; arachnodactyly; joint hypermobility;
upward lens dislocation; and aortic root dilation.

394. Duchenne Dystrophy Duchenne muscular dystrophy presents with gross motor delay (e.g. delayed
independent walking), Gower sign, and progressive muscle weakness. Initial screening reveals elevated creatine kinase,
and genetic analysis typically confirms the diagnosis.

395. Henoch-Schönlein Purpura Henoch-Schönlein purpura (HSP) is an IgA-mediated vasculitis that

presents most common in children with palpable purpura, abdominal pain, arthralgia/arthritis, and hematuria. Children
with HSP are at increased risk for ileoileal intussusception due to intestinal edema and bleeding.

396. Duchenne Dystrophy Duchenne muscular dystrophy should be suspected in a boy age < 5 with
proximal muscle weakness and calf pseudohypertrophy. Patients have markedly reduced or absent dystrophic protein
expression within the muscle.

397. Trisomy 18 Infants with Edwards syndrome (trisomy 18) commonly have microcephaly, prominent
occiput, fetal growth restriction, and micrognathia, as well as closed fists with overlapping digits and rocker-bottom feet.
The mortality rate in the first year of life approaches 95%.

398. Chorea Sydenham chorea is an autoimmune complication of group A Streptococcus infection caused by
molecular mimicry, in which antistreptococcal antibodies cross-react with neuronal antigens in the basal ganglia.
Neuropsychiatric manifestations include chorea, milkmaid grip, hypotonia, emotional lability, and obsessive-compulsive
behaviors.
399. Respiratory Physiology Apnea of prematurity is caused by immature respiratory centers in the pons and
medulla and affects virtually all preterm infants < 28 weeks gestation. Diagnosis is clinical, and no additional testing is
required in a well-appearing infant with a classic presentation in the first few days of life.

400. Child Abuse Abusive head trauma should be suspected in an infant with nonspecific vomiting and an
acute, unexplained change in behavior, even in the absence of a trauma history. Evaluation includes CT scan of the head to
detect subdural hemorrhage.

401. Spinal Cord Injury Athletes with possible cervical spine injury should have their cervical spine
motion restricted (e.g. log roll technique, application of a rigid cervical collar) until injury is ruled out clinically or
radiographically.

402. Retinitis Pigmentosa Retinitis pigmentosa is a genetic condition resulting in progressive degeneration
of the retina. Patients have progressive night blindness and peripheral vision loss. Funduscopic examination may show
retinal pigment deposition in addition to retinal vessel attenuation and optic disc pallor.

403. Migraine Migraines are classically episodic, unilateral, throbbing headaches commonly triggered
by stress, fasting, and/or dehydration. Acute management includes simple analgesia (e.g. acetaminophen) and a triptan
 (e.g. sumatriptan) in refractory cases.

404. Migraine Classic migraine presents with a unilateral and pulsatile headache, phonophobia,
photophobia, nausea, and/or vomiting. Common triggers include sleep deprivation and menses. Imaging and laboratory
evaluation are not warranted for patients with classic symptoms and a normal neurologic examination.

405. Migraine Migraines in young children often present with bilateral, throbbing headache, in addition
to photophobia, phonophobia, nausea, or vomiting. In contrast to adults, children commonly have associated autonomic
symptoms (e.g. tearing, nasal congestion).

406. Microcephaly Microcephaly refers to head circumference > 2 standard deviations below the mean (i.e. <
2nd percentile). In a child with normal development and an otherwise normal examination, the next step is to measure
parental head circumferences to assess for benign familial microcephaly.

407. Tuberous Sclerosis Tuberous sclerosis complex is an inherited neurocutaneous disorder characterized
by benign hamartomas of various organs. Epilepsy is a frequent finding that often begins in infancy but can manifest later
in life. Other characteristic features include periungual fibromas and subependymal nodules.

408. Sturge-Weber Syndrome Glaucoma in infants typically presents with tearing, photophobia,
blepharospasm, and an enlarged cornea and globe. Patients with Sturge-Weber syndrome are at increased risk due to a
congenital anterior chamber angle anomaly. Evaluation of glaucoma includes tonometry to measure intraocular pressure.

409. Von Hippel-Lindau Disease Von Hippel-Lindau disease, an autosomal dominant condition caused by
a mutation of a tumor suppressor gene, leads to various neoplasms, including CNS and retinal hemangioblastomas,
pheochromocytomas, and renal cell carcinomas.

410. Tuberous Sclerosis Tuberous sclerosis complex (TSC) is an autosomal dominant neurocutaneous
disorder characterized by distinct skin features and benign tumor formation, including subependymal giant cell tumors in
the brain and cardiac rhabdomyomas. TSC should be suspected in infants with infantile spasms and ash-leaf spots.

411. Hydrocephalus Myelomeningocele is an open neural tube defect in which the meninges and spinal cord
protrude through the skin. It is often associated with a Chiari II malformation (i.e. inferior displacement of the medulla and
cerebellum through the foramen magnum), as well as obstructive hydrocephalus.

412. Hydrocephalus Macrocephaly is a head circumference > 97th percentile. The condition is most likely
benign (e.g. familial) in a patient with normal development and normal examination (e.g. no syndromic features, no signs
of increased intracranial pressure). Management is reassurance and observation.

413. Hydrocephalus Hydrocephalus (excess cerebrospinal fluid) causes ventricular dilation and increased
intracranial pressure. Children may have a rapidly enlarging head circumference, behavior changes, and developmental
delay. In patients whose anterior fontanelle has closed, headache, vomiting, hypertension, and papilledema may occur.

414. Scalp Hematomas A cephalohematoma is a collection of blood between the skull and periosteum
caused by the rupture of subperiosteal vessels during delivery. Examination reveals a firm, nonfluctuant scalp swelling
that does not cross suture lines. Management is with reassurance and observation because most cephalohematomas resolve
without intervention.

415. Herpes Zoster The classic triad of herpes zoster oticus (i.e. Ramsay Hunt syndrome) includes severe ear
pain, ipsilateral facial paralysis, and a vesicular rash in the external auditory canal.

416. Intraventricular Hemorrhage Preterm newborns are at increased risk of developing intraventricular
hemorrhage (IVH) due to the presence of the germinal matrix, a fragile, highly vascularized area in the brain. Because
IVH can be asymptomatic, all preterm neonates born at < 32 weeks gestation require screening head ultrasound.
417. Hemorrhagic Stroke Hemorrhagic stroke presents with sudden headache, focal neurologic deficits, and
altered mental status. Risk factors in children include vascular malformations (e.g. arteriovenous malformation (AVM)).
Head CT scan of a ruptured AVM typically shows an intraparenchymal bleed (i.e. hyperdense fluid collection with
irregular margins).

418. Post Concussion Syndrome Post-concussion syndrome is characterized by prolonged (> 4 weeks)
concussion symptoms (e.g. headache, sleep disturbance). Management is symptomatic care because most patients improve
within 3 months.

419. Concussion Concussion is caused by rapid rotational acceleration of the brain during head trauma.
Diagnosis is based on clinical findings of neurologic disturbance (e.g. headache, noise sensitivity, emotional changes)
without evidence of structural intracranial injury. Treatment is physical and cognitive rest followed by a gradual return to
activity.
420. Concussion Concussion, or mild traumatic brain injury, is characterized by neurologic symptoms (e.g.
headache, difficulty concentrating) without structural intracranial injury. Initial treatment is with cognitive and physical
rest for 24-48 hours, followed by a gradual return to play with slowly increasing physical intensity.

421. Concussion Imaging should be avoided in children with minor head trauma and no high-risk features
for intracranial injury (i.e. altered mental status, loss of consciousness, severe mechanism of injury, vomiting or severe
headache, signs of basilar skull fracture).

422. Concussion Concussion is a form of mild traumatic brain injury resulting in transient impairment of
normal neuronal function. Typical symptoms include headache, disorientation, dizziness, and/or amnesia associated with
abnormalities in coordination, speech, attention, or emotions.

423. Seizures Seizure in the setting of fever is most commonly due to benign, febrile seizures in
children age 6 months to 5 years. Infants age < 6 months should undergo lumbar puncture (LP) because they may lack
other typical findings of meningitis (e.g. nuchal rigidity). Additional features warranting LP include signs of increased
intracranial pressure & prolonged altered mental status.

424. Brain Tumors Craniopharyngiomas are benign, slow-growing, calcified tumors within the suprasellar
region. Tumor compression of the optic chiasm can result in bitemporal hemianopsia, and pituitary stalk compression can
cause panhypopituitarism (e.g. growth failure, pubertal delay).

425. Hydrocephalus Choroid plexus papilloma is a benign intraventricular mass that causes increased
production of cerebrospinal fluid, leading to ventriculomegaly and hydrocephalus. In infants, hydrocephalus presents with
enlarging head circumference and signs of increased intracranial pressure.

426. Myotonic Dystrophy Myotonic dystrophy is a multisystem genetic disorder with variable severity and
phenotype that classically causes muscle weakness and myotonia. Sleep disturbances, including excessive daytime
sleepiness, are a common, yet often underrecognized, feature. The childhood phenotype (age of onset < 10) often presents
with intellectual impairment and behavioral issues.

427. Idiopathic Intracranial Hypertension Although idiopathic intracranial hypertension typically presents
in obese women of childbearing age, it can also be seen in children who are not obese. Headaches may be less obvious,
and vision abnormalities (e.g. blurry vision, enlarged blind spot) are often predominant in the prepubertal population.
Papilledema is the hallmark examination finding.

428. Scalp Hematomas Subgaleal hemorrhage is caused by the shearing of veins between the dural
sinuses and scalp due to scalp traction during delivery. Blood accumulates between the periosteum and galea aponeurotica,
causing diffuse, fluctuant scalp swelling. Rapid hemorrhage expansion can lead to hypovolemic shock, disseminated
intravascular coagulation, and death.

429. Hydrocephalus Newborns who do not receive intramuscular vitamin K are at risk of vitamin K deficiency
bleeding, which presents with easy bruising or bleeding, including intracranial hemorrhage (ICH). ICH can cause
 obstructive hydrocephalus, leading to a bulging fontanelle, upward gaze impairment, and signs of increased intracranial
pressure (e.g. irritability, vomiting, bradycardia, hypertension).

430. Chiari Malformation Chiari I malformation is characterized by inferior displacement of the cerebellar
tonsils through the foramen magnum, and syringomyelia is a commonly associated condition. Although frequently
asymptomatic, presentation may occur in adolescence/adulthood with occipital headache exacerbated by activity and
Valsalva maneuvers.

431. Tuberous Sclerosis Tuberous sclerosis complex should be suspected in a patient with refractory
epilepsy, developmental delay, intellectual disability, and characteristic skin findings (e.g. ash-leaf spots). Associated
tumors include subependymal nodules and cardiac rhabdomyomas.

432. Breath Holding Spells Pallid breath-holding spells are triggered by fear or pain from minor trauma and
are characterized by pallor/diaphoresis with brief loss of consciousness that may be followed by sleepiness and confusion.
Diagnosis is clinical and requires no testing.

433. Rett Syndrome In Rett syndrome, a period of normal development is followed by regression of speech,
loss of purposeful hand use accompanied by stereotypical hand movements, and gait disturbance. Other features include
breathing abnormalities, autistic features, and seizures.

434. Hydrocephalus Signs of increased intracranial pressure in young children include irritability, intractable
vomiting, lethargy, and a bulging fontanelle. Urgent brain imaging is necessary to evaluate for ventriculomegaly, mass
effect, and impending herniation.

435. Meningitis Among patients with meningitis, a viral etiology is suggested when cerebrospinal fluid
analysis reveals a mildly elevated white blood cell count and protein level and normal glucose concentration. Mumps virus
is capable of causing viral meningitis in unvaccinated individuals.

436. Friedreich Ataxia Friedreich ataxia is an autosomal recessive, neurodegenerative disease that
typically presents in adolescence with progressive ataxia, dysarthria, scoliosis, and cardiomyopathy. Loss of vibratory
sense and proprioception also occur due to degeneration of the dorsal spinal columns.

437. Chorea Sydenham chorea, a sequela of group A Streptococcus (GAS) infection, is the primary cause of
chorea (i.e. abnormal, jerky movements that disappear during sleep) in children. Hypotonia and behavioral changes are
commonly seen, and evaluation includes GAS testing with throat culture and antistreptolysin O and antideoxyribonuclease
titers.
438. Cytomegalovirus Sensorineural hearing loss is the most common sequela of congenital
cytomegalovirus (CMV). To reduce the risk of hearing loss, antiviral therapy should be given to neonates with
symptomatic CMV (e.g. hepatosplenomegaly, jaundice, periventricular calcifications).

439. Brain Tumors Posterior fossa tumors typically present with signs of cerebellar dysfunction (e.g. ataxia)
and increased intracranial pressure (e.g. headache, vomiting, papilledema). In children, the most common posterior fossa
tumors are pilocytic astrocytoma and medulloblastoma.

440. Developmental Milestones Normal development of an 18-month-old child includes a 10-25-word

vocabulary, running, kicking, scribbling, and pretend play. The inability to walk or run independently by this age is a sign
of gross motor delay.

441. Developmental Milestones Two-year-old children with appropriate language development should
have a vocabulary of > 50 words, combine words into 2-word phrases, and follow 2-step commands. In addition, a
stranger should be able to understand at least half of a 2-year-old's speech.

442. Breath Holding Spells Breath-holding spells are generally benign and characterized by a brief period of
apnea and skin color change associated with an emotional trigger. Parents should be reassured that these spells are
 typically harmless and children still develop normally.

443. Hydrocephalus Increasing head circumference and signs of increased intracranial pressure in children
should be evaluated with an imaging study such as a CT scan of the brain.

444. Febrile Seizure Simple febrile seizures are typically benign and occur in children age 6 months to 5 years.
They are generalized, last < 15 minutes, and do not recur within 24 hours. Diagnostic testing is unnecessary, and
management is with supportive care (e.g. antipyretics) and reassurance.

445. Seizures Seizures are characterized by sudden loss of consciousness, loss of postural tone, and a
postictal state with delayed return to baseline neurologic functioning. Tongue lacerations can occur with tonic-clonic
movements.
446. Guillain-Barré Syndrome Guillain-Barré syndrome most commonly presents with ascending
weakness and areflexia, and can progress to involve respiratory and bulbar muscles. Serial pulmonary function testing
(e.g. spirometry) of forced vital capacity and negative inspiratory force is indicated to monitor for impending respiratory
failure.
447. Brain Abscess Direct spread of bacteria from otitis media (OM) or mastoiditis can cause a temporal brain
abscess. The presentation can include severe headache, morning vomiting, fever, and focal neurologic deficits. Diagnosis
is confirmed by visualization of a ring-enhancing lesion on CT scan or MRI of the brain.

448. Seizures Todd paralysis is a transient, focal weakness or paralysis (e.g. hemiplegia) that occurs in
the postictal period after a focal-onset (+/- secondary generalization) seizure. Symptoms are self-limited and usually
resolve within 36 hours.

449. Cervical Artery Dissection Posterior oropharyngeal injuries can result in internal carotid artery
dissection or thrombus formation, which can present with hemiplegia, facial droop, and aphasia.

450. Neurofibromatosis Neurofibromatosis type 1 is a genetic condition associated with café-au-lait

macules, axillary and inguinal freckling, Lisch nodules, and neurofibromas (peripheral nerve sheath tumors).

451. SIDS Sudden infant death syndrome (SIDS) refers to the unexplained death of infants age < 1. SIDS
risk is decreased with smoke avoidance, pacifier use, sleeping in the supine position with firm bedding, and room-sharing
without bed-sharing.

452. Lesch-Nyhan Syndrome Lesch-Nyhan syndrome is caused by a deficiency in hypoxanthine-guanine

phosphoribosyltransferase. Neurologic findings begin with developmental delay and hypotonia in infancy and progress to
chorea, dystonia, and spasticity in early childhood. Cardinal findings include self-mutilation and gouty arthritis.

453. Homocysteine Homocystinuria is an autosomal recessive disorder caused by cystathionine synthase

deficiency. In addition to Marfanoid body habitus, patients with homocystinuria also have intellectual disability,
downward lens dislocation, and hypercoagulability. Treatment involves vitamin supplementation and antiplatelet or
anticoagulation to prevent thromboembolic events.

454. Migraine Migraine headaches are the most common cause of acute and recurrent headaches in the
pediatric population. They typically present with unilateral or bifrontal pain; photophobia; phonophobia; nausea; vomiting;
and a visual, auditory, or linguistic aura. First-line treatment in children includes acetaminophen, nonsteroidal anti-
inflammatory agents, and supportive management. Triptans may be tried if these measures are not effective.

455. Intraventricular Hemorrhage Intraventricular hemorrhage is a common complication of prematurity

and can present with acute neurologic changes (e.g. seizure, apnea), a bulging fontanelle, and a rapidly increasing head
circumference.
456. Brain Tumors Parinaud syndrome occurs in most patients with pineal gland masses (pinealomas) and
presents as limitation of upward gaze, bilateral eyelid retraction, and light-near dissociation. Pineal gland tumors can also
cause persistent headache and vomiting due to obstructive hydrocephalus.
457. Guillain-Barré Syndrome Guillain-Barré syndrome typically presents with ascending weakness and
diminished/absent deep tendon reflexes following a recent gastrointestinal or respiratory infection. The pathogenesis of
this syndrome is the immune-mediated demyelination of peripheral nerve fibers.

458. Myotonic Dystrophy Myotonic dystrophy is an autosomal dominant disorder that presents in
adolescence or early adulthood with grip myotonia (delayed muscle relaxation), progressive weakness (e.g. facial and hand
muscles), dysphagia, and cardiac conduction anomalies. Testicular atrophy/infertility can also occur.

459. Brain Tumors In children, low-grade astrocytomas are the most common type of central nervous system
tumor. New-onset seizures may be the initial presentation of a tumor originating in the cerebral cortex.

460. Intraventricular Hemorrhage The primary risk factor for intraventricular hemorrhage is prematurity
due to fragile germinal matrix vessels. Symptomatic newborns may have apnea, seizures, and a bulging fontanelle as well
as signs of acute blood loss (e.g. anemia, tachycardia). Cranial ultrasound is diagnostic.

461. Guillain-Barré Syndrome Diarrheal illness (e.g. Campylobacter jejuni infection) is the most
frequent precipitant of Guillain-Barré syndrome (GBS), an acute demyelinating polyneuropathy characterized by
ascending weakness and hyporeflexia. Other common findings of GBS include paresthesia, neuropathic pain, and
autonomic dysfunction.

462. Neurofibromatosis Patients with neurofibromatosis type 1 are at increased risk for optic pathway
gliomas, which can present with headache and decreased visual acuity. MRI of the brain and orbits evaluates for an
intracranial mass.

463. Child Abuse Abusive head trauma is the most common cause of death from child abuse. Repetitive
acceleration-deceleration forces cause shearing of the subdural bridging veins and vitreoretinal traction, resulting in
subdural and retinal hemorrhages.

464. Epidural Hematoma Epidural hematoma occurs when blood accumulates between the cranium and
dura mater after traumatic head injury. Patients classically have a brief loss of consciousness followed by a lucid interval.
Rapid hematoma expansion leads to elevated intracranial pressure (e.g. impaired consciousness, nausea/vomiting,
headache) and uncal herniation (e.g. ipsilateral pupillary dilation, contralateral hemiparesis).

465. Concussion Head CT scan without contrast is indicated for minor head trauma with high-risk features
for intracranial injury (i.e. altered mental status, loss of consciousness, severe mechanism of injury, vomiting or severe
headache, signs of basilar skull fracture). Observation for 4-6 hours may be an alternative option if mental status is normal
and there are no signs of a basilar skull fracture.

466. Galactosemia Galactosemia is a metabolic disorder in which deficient galactose-1-phosphate

uridylyltransferase prevents the reduction of galactose to glucose. The disorder typically presents with jaundice, vomiting,
hepatomegaly, and possibly seizures (due to hypoglycemia) in the first few days of life. The diagnosis is supported by the
presence of non-glucose reducing substances in urine, which suggests galactosuria.

467. Idiopathic Intracranial Hypertension Intracranial hypertension presents with headache, vision changes,
papilledema, and/or abducens nerve (CN VI) palsy. Growth hormone, tetracyclines, and excessive vitamin A and its
derivatives (e.g. isotretinoin) can cause increased intracranial pressure. Withdrawal of these medications leads to symptom
resolution.
468. Sturge-Weber Syndrome Sturge-Weber syndrome is a neurocutaneous disorder characterized by a
capillary malformation (port-wine stain) along the trigeminal nerve distribution and leptomeningeal capillary-venous
malformations affecting the brain and eye. Seizures, intellectual disability, and visual field defects can occur.

469. Seizures Seizure should be considered in any patient with an episode of sudden loss of
consciousness followed by a postictal state of sleepiness and confusion. Other common findings include perioral cyanosis,
evidence of tongue biting, and urinary incontinence.
470. Neurofibromatosis Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous
disorder associated with café-au-lait macules and axillary and inguinal freckling. Patients with NF1 have an increased risk
of seizures, learning disabilities, and optic pathway gliomas.

471. Scalp Hematomas Cephalohematoma is a subperiosteal hemorrhage that presents in the first day of
life with a firm, well-demarcated scalp swelling that does not cross suture lines. Forceps- or vacuum-assisted deliveries
increase the risk of developing cephalohematomas. Management is with observation because most resorb spontaneously.

472. Botulism Infant botulism is caused by the ingestion of Clostridium botulinum spores, which
colonize the gut and lead to production and release of a neurotoxin responsible for life-threatening, descending flaccid
paralysis. The diagnosis should be considered when a previously healthy infant presents with bulbar palsies, constipation,
and hypotonia, even if the infant has not been fed honey. Human-derived botulism immune globulin is the treatment of
choice.
473. Niemann-Pick Niemann-Pick disease type A is due to sphingomyelinase deficiency and presents at age
2-6 months with areflexia, hepatosplenomegaly, a 'cherry-red' macula, and developmental milestone regression. Although
Tay-Sachs disease presents in a similar manner, hepatosplenomegaly and areflexia are not seen.

474. Fetal Alcohol Syndrome Fetal alcohol syndrome is one of the most common preventable causes of
birth defects, behavioral problems, and cognitive impairment. The pathognomonic facial features are small palpebral
fissures, smooth philtrum, and thin vermilion border.

475. Cerebral Palsy Cerebral palsy is a non-progressive motor dysfunction with prematurity as the leading risk
factor. The most common findings are delayed gross motor milestones in infancy and spasticity (e.g. hypertonia,
hyperreflexia).
476. Meningitis Hearing loss is a common sequela of Streptococcus pneumoniae meningitis due to
inflammatory damage to the cochlea and/or labyrinth. Audiologic testing should be performed as soon as possible to
identify hearing loss and improve outcomes if hearing rehabilitation is needed.

477. Fragile X Syndrome Fragile X syndrome, an X-linked disorder due to a trinucleotide repeat expansion
in the FMR1 gene, is the most common cause of inherited intellectual disability. In addition to speech and motor delays,
findings include a long face, prominent forehead, protruding ears, and macro-orchidism.

478. Friedreich Ataxia Friedreich ataxia is an autosomal recessive, neurodegenerative disease that
typically presents in adolescence with progressive ataxia and loss of position and vibratory sense. Genetic testing reveals
an excessive number of trinucleotide repeat sequences.

479. Seizures Focal seizures originate in a single cerebral hemisphere and can spread to involve both
hemispheres, causing impairment of awareness (with or without automatisms) and inability to respond to external stimuli.
In contrast to absence seizures, focal seizures are associated with a postictal phase and are not provoked by
hyperventilation.

480. Ocular Trauma Optic nerve injuries (e.g. contusion, avulsion) may occur indirectly following head trauma
due to shearing forces on the optic canal. Patients have an acute decrease in visual acuity and a relative afferent pupillary
defect in the injured eye.

481. Ocular Trauma Lens dislocation typically occurs after blunt trauma to the eye. However, ectopia lentis
following minimal or no trauma should prompt evaluation for Marfan syndrome, including echocardiography to detect
associated aortic root disease.

482. Ocular Trauma Orbital compartment syndrome causes eye pain and vision loss due to rapidly increased
intraorbital pressure from trauma. Examination shows a tight orbit (e.g. periorbital swelling, hard eyelid, proptosis) and an
afferent pupillary defect. Management is immediate surgical decompression to prevent permanent vision loss.

483. Ocular Trauma Photokeratitis is an acute corneal injury due to ultraviolet (UV) light exposure in the
absence of UV-protective eyewear. Patients generally seek medical attention 6-12 hours after exposure for severe, bilateral
 eye pain and photophobia. Punctate staining of the corneas using fluorescein dye is characteristic.

484. Refractive Errors Myopia, or nearsightedness, is characterized by increased anterior-posterior

diameter of the eye, causing blurred distance vision. High myopia (> 6 diopters of correction) increases the risk of retinal
detachment and macular degeneration.

485. Dacryostenosis & Dacryocystitis Congenital nasolacrimal duct obstruction is typically due to
incomplete canalization of the distal duct, resulting in blockage of normal tear flow. Infants have increased tearing and
crusting of the eyelashes but clear conjunctivae. Initial management involves lacrimal sac massage several times daily to
open the duct.
486. Retinoblastoma Strabismus (ocular misalignment) presents with eye deviation, asymmetric corneal light
and red reflexes, and an abnormal cover test. Dilated funduscopic examination is performed to detect retinoblastoma, a
life-threatening cause of strabismus.

487. Amblyopia Amblyopia is a functional reduction in the visual acuity of one or both eyes and is caused
by disturbances in binocular vision during early childhood. Because of compensation from the normal eye, amblyopia
from an uncorrected refractive error may not present until the normal eye is occluded.

488. Conjunctivitis Allergic conjunctivitis is an IgE-mediated hypersensitivity to environmental allergens and

presents with ocular pruritus, bilateral conjunctivitis, and clear discharge. Treatment includes allergen avoidance and
topical therapy (e.g. antihistamines, mast cell stabilizers).

489. Orbital Cellulitis Symptoms of orbital cellulitis include proptosis, ophthalmoplegia, and visual
changes. Bacterial sinusitis is the most common predisposing factor for orbital cellulitis.

490. Vision Screening Vision is evaluated at every well-child visit, as early detection of eye
abnormalities can prevent long-term vision loss. Formal visual acuity testing is recommended starting at age 4 as well as
in cooperative 3-year-olds.

491. Neurofibromatosis Neurofibromatosis type 1 is a genetic disorder that causes café-au-lait macules,
freckling in skinfolds, Lisch nodules, and neurofibromas. Approximately 15% of children with this disorder develop optic
pathway gliomas, which often manifest with unilateral vision loss, proptosis, esotropia, and optic disc pallor.

492. Neonatal Conjunctivitis Chlamydial conjunctivitis typically presents at age 5-14 days with mild eyelid
swelling, chemosis, and watery or mucopurulent discharge. Affected infants should receive oral macrolide therapy (e.g.
azithromycin) because topical treatments are not effective.

493. Strabismus Strabismus, or ocular misalignment, can be detected by asymmetric red and corneal light
reflexes as well as eye deviation on cover test. Management includes correction of refractive errors and strengthening the
affected eye by patching or applying drops to blur vision in the normal eye. Without treatment, strabismus can lead to
amblyopia, a functional reduction in visual acuity of the deviated eye.

494. Retinoblastoma Leukocoria, or white pupillary reflex, in an infant or young child should prompt
immediate referral to an ophthalmologist to evaluate for retinoblastoma. Strabismus and nystagmus are other red flags.

495. Gonococcal Infection Gonococcal conjunctivitis presents in the first 2-5 days of life with eyelid
swelling, copious and purulent eye drainage, and conjunctival injection, causing blindness if untreated. Prevention is
achieved by the application of a topical erythromycin ointment soon after birth.

496. Conjunctivitis Trachoma is due to infection with Chlamydia trachomatis serotypes A, B, and C. Acute
trachoma presents with follicular conjunctivitis and inflammation. Repeated or chronic infection causes inversion of the
eyelashes and scarring of the cornea.

497. Anticholinergics Many common medications (e.g. cyclopentolate eye drops) can cause
anticholinergic toxicity, especially in children or the elderly. Physostigmine, a reversible acetylcholinesterase inhibitor,
 may be considered to treat severe anticholinergic toxicity.

498. Drowning Drowned patients often require respiratory support to correct hypoxia. In patients who are
unable to protect their airway or who are hypoxic despite supplemental oxygen, intubation with mechanical ventilation
should be performed.

499. Insect Bites and Stings Patients with stings from Hymenoptera species can develop exaggerated local
allergic responses called large local reactions, characterized by swelling, erythema, and warmth (up to ~10 cm in size)
contiguous with the site of the sting.

500. Heat Related Illness Heat exhaustion is characterized by hyperthermia (typically < 40 C (104 F))
associated with weakness, dizziness, profuse sweating, headache, and/or nausea. Mentation remains normal, unlike in
exertional heat stroke. Management includes cooling (e.g. cool water shower) and oral hydration with salt-containing
fluids.
501. Drowning The most effective way to prevent children from drowning in swimming pools is to install
a 4-sided fence around the pool with a self-closing gate and latch. A reliable supervising adult should be present and
paying constant attention to children during any water activity.

502. Botulism Infant botulism occurs in children age < 1 after exposure (e.g. ingestion of honey) to
Clostridium botulinum spores. Impaired acetylcholine release into the neuromuscular junction causes constipation,
irritability, oculobulbar weakness (e.g. absent gag reflex, ptosis), hyporeflexia, progressive hypotonia, and eventual
paralysis.
503. Methemoglobinemia Patients with acquired symptomatic methemoglobinemia or high levels of
methemoglobin can be treated with methylene blue or high-dose ascorbic acid.

504. Methemoglobinemia Methemoglobinemia presents with cyanosis after exposure to an oxidizing agent
(e.g. dapsone, nitrites, anesthetics). Pulse oximetry saturation is typically low and does not improve with the
administration of oxygen; however, PaO2 is normal.

505. Lead Poisoning Targeted screening for elevated blood lead levels should be performed in children with
risk factors (e.g. home built before 1978). Due to the potential of falsely elevated results with capillary testing, repeat
testing by venous blood draw should be performed to verify a high blood lead level.

506. Iron Poisoning Patients with acute iron poisoning have abdominal pain, diarrhea, and hematemesis; in
addition, they may develop hypovolemic shock within a few hours due to gastrointestinal losses. Laboratory evaluation
reveals an anion gap metabolic acidosis, and x-ray may show radiopaque tablets.

507. Organophosphate Poisoning Organophosphates are acetylcholinesterase inhibitors that are primarily
used as agricultural pesticides. Toxicity is characterized by signs of cholinergic excess (e.g. miosis, bronchospasm, muscle
fasciculations/weakness, diarrhea, vomiting, lacrimation) and can rapidly lead to respiratory failure. Management includes
decontamination (removal of clothes, irrigation of skin) to prevent cutaneous absorption and treatment with atropine
followed by pralidoxime.

508. Iron Poisoning Acute iron poisoning can occur after accidental ingestion of prenatal vitamins and
presents with abdominal pain, hematemesis, shock, and anion gap metabolic acidosis. Deferoxamine is the primary
therapy.
509. Caustic Ingestion The first step in managing caustic ingestion is assessing airway, breathing, and
circulation. Contaminated clothing should be removed promptly. Upper gastrointestinal endoscopy is the diagnostic study
of choice to evaluate the extent of injury. Attempting to neutralize the alkali with vinegar or lavage is dangerous as these
interventions may trigger vomiting, which may cause further mucosal damage.

510. Small for Gestational Age Fetal growth restriction (FGR) is characterized by estimated fetal weight
< 10th percentile or birth weight < 3rd percentile. Asymmetric FGR, in which head circumference is normal, is most
commonly due to uteroplacental insufficiency (e.g. maternal chronic hypertension) in the second/third trimester.
511. Large For Gestational Age Metabolic complications of infants of diabetic mothers include
hypoglycemia, hypocalcemia, and hypomagnesemia. Serum calcium level should be obtained for symptomatic neonates
(e.g. jitteriness), particularly if serum glucose is normal.

512. HSV Infection Neonatal herpes simplex virus infection typically results from vertical transmission during
delivery. The presentation in newborns with CNS disease (i.e. encephalitis) typically occurs in weeks 2-3 of life with
seizure and temporal lobe hemorrhage.

513. Small for Gestational Age Small for gestational age infants have a weight under the 10th percentile
for gestational age at birth and may have complications such as hypoxia, polycythemia, hypoglycemia, hypothermia, and
hypocalcemia.
514. Infant of Diabetic Mother Excessive maternal hyperglycemia causes fetal hyperglycemia and
hyperinsulinemia. Neonates may be macrosomic, increasing the risk of shoulder dystocia and its complications (e.g.
brachial nerve palsy, clavicle fracture).

515. Neonatal Evaluation Immediate routine neonatal resuscitation includes drying, stimulating, and
warming. Healthy newborns should be placed on the mother's chest for skin-to-skin care, which provides warmth and
allows early breastfeeding initiation.

516. Teratogens Fetal hydantoin syndrome results from in utero exposure to an antiepileptic (e.g.
phenytoin, carbamazepine) and presents with microcephaly, a wide anterior fontanelle, cleft lip and palate, and distal
phalangeal hypoplasia.

517. Clavicle Fracture Birth weight > 4 kg, shoulder dystocia, and vacuum delivery are risk factors for
neonatal clavicular fractures. Management includes reassurance and gentle handling, as most neonatal clavicular fractures
heal rapidly without complications.

518. Child And Adolescent Mental Health Physicians are in a unique position to answer adolescents'
questions about sexuality. Keys to promoting open discussion include providing a private setting, assuring confidentiality,
normalizing discussions of sex, removing stigma and discomfort by being nonjudgmental, and avoiding assumptions by
using open-ended and gender-neutral questions.

519. Suicide In children and adolescents with depression, considerations for inpatient treatment include
suicidal ideation, poor psychosocial support, and lack of psychiatric follow-up. Any child who has possible thoughts of
suicide must undergo emergency assessment for safety.

520. Child And Adolescent Mental Health Pediatric major depression may present with irritability rather
than depressed mood. If a patient displays irritability along with social withdrawal and academic decline, major depression
should be considered.

521. Attention Deficit Hyperactivity Disorder First-line treatment for attention deficit hyperactivity disorder in
school-age children is with stimulant medications (e.g. methylphenidate, amphetamines) due to their efficacy, safety, and
tolerability.
522. Learning Disorders A specific learning disorder (difficulties with key academic skills: reading,
writing, and math) should be considered a diagnostic possibility in any school-aged child with academic, behavioral, or
social difficulties at school. Early intervention can be helpful in improving self-esteem, social skills, and preventing
further academic decline.

523. Autism Spectrum Disorders Impaired development of joint attention is a key feature of autism
spectrum disorder in young children. Other possible features include the preference for solitary play, lack of eye contact,
and poor response-to-name when called.

524. Attention Deficit Hyperactivity Disorder The nonstimulant atomoxetine is an appropriate treatment for
child and adolescent attention deficit hyperactivity disorder when parents prefer a nonstimulant medication.
525. Developmental Milestones Stranger anxiety is a normal part of development characterized by crying
when an unfamiliar person approaches. It typically peaks at age 8-9 months and resolves by age 2 years.

526. Rett Syndrome Rett syndrome occurs mainly in girls and is characterized by loss of speech and
purposeful hand use, gait disturbance, stereotypical hand movements, and head growth deceleration after a period of
normal development. Seizures are common and increase in prevalence with age.

527. Language Disorder Language disorder is common and characterized by persistent difficulties in the
acquisition and use of language due to deficits in comprehension and/or production. Typical signs include limited
vocabulary, sentence structure and functional use of language.

528. Reactive Attachment Disorder Early childhood abuse or neglect can result in disrupted attachment to
caregivers and difficulty forming healthy relationships. Reactive attachment disorder is characterized by a pattern of
emotional and social withdrawal as well as a lack of positive response to attempts to comfort.

529. Wilson Disease New-onset psychosis in an adolescent with neurologic dysfunction (e.g. tremor,
parkinsonism) raises concern for Wilson disease. Pathogenesis involves defective hepatocellular copper transport, leading
to copper accumulation in the liver and basal ganglia.

530. Suicide Suicide is a leading cause of death in adolescents and often involves firearms. Males with mood
disorders and impulsivity are at increased risk. Removing firearms from the home, or locking unloaded firearms and
ammunition in separate containers, decreases the risk of suicide.

531. Obsessive Compulsive Disorder First-line treatment of pediatric obsessive-compulsive disorder includes
selective serotonin reuptake inhibitors and/or cognitive-behavioral psychotherapy.

532. Sexual Abuse It is normal for curious young children to touch their own or other young children's
genitals, undress themselves or others, and make masturbatory movements. These behaviors are typically brief,
intermittent, and distractible. Age-inappropriate knowledge or simulation of sexual acts, however, should raise concern for
possible abuse.
533. Developmental Milestones Normal creative and healthy behaviors for young children include
imaginary friends, pretend play, and storytelling with fanciful details.

534. Opioids Neonatal abstinence syndrome is caused by infant withdrawal to opiates and usually presents in
the first few days of life. It is characterized by irritability, a high-pitched cry, poor sleeping, tremors, seizures, sweating,
sneezing, tachypnea, poor feeding, vomiting, and diarrhea.

535. Attention Deficit Hyperactivity Disorder The diagnosis of attention deficit hyperactivity disorder is based
on clinical evaluation of symptoms and associated impairment in 2 different settings. Teacher evaluations are an important
tool for assessing behavior in the school environment.

536. Tourette Syndrome Patients with Tourette syndrome have high rates of psychiatric comorbidity, with
a significantly increased risk for attention deficit hyperactivity disorder and/or obsessive-compulsive disorder.

537. Impulse Control Disorders Pyromania is characterized by intentional and repeated fire setting with
no obvious motive. Patients have a fascination with fire and deliberately start fires to reduce tension and feel pleasure or
relief.
538. Anxiety Trichotillomania is a behavioral disorder characterized by recurrent hair pulling. It results in
irregular patches of hair loss with broken hair shafts of differing lengths.

539. Selective Mutism Children with selective mutism are verbal at home but refuse to speak in specific
social settings, commonly at school. It is considered an anxiety disorder and should be treated early to prevent long-term
educational and social impairment.
540. Autism Spectrum Disorders Autism spectrum disorder is characterized by abnormal social
development and extreme behavior rigidity, with onset in early development. Higher-functioning individuals with normal
language and intellectual ability may be diagnosed later, when deficits become more apparent with increased social
demands.
541. Tourette Syndrome Treatment options for Tourette disorder include habit reversal training,
antidopaminergic agents, and α2-adrenergic receptor agonists.

542. Autism Spectrum Disorders Children with impaired social communication, restricted interests, and
repetitive behaviors require assessment for autism spectrum disorder. Variable degrees of language and intellectual
impairment may be present.

543. Physician Patient Communication Autism spectrum disorder should be suspected in children with
impaired social interactions, restricted interests, or repetitive behaviors. When parents have differing levels of concern,
physicians should take a sensitive approach that considers both parents' views, educates them about the spectrum of
developmental disorders, and encourages further evaluation.

544. Attention Deficit Hyperactivity Disorder A diagnosis of attention deficit hyperactivity disorder (ADHD)
should be considered in children with symptoms of inattention, impulsivity, and hyperactivity in 2 or more settings. In
addition to academic difficulty, ADHD often results in impaired family and peer relationships.

545. Respiratory Physiology Apnea of prematurity is caused by immature central respiratory centers and
presents with respiratory pauses, often with bradycardia and desaturation. Treatment involves noninvasive ventilation and
caffeine.
546. Drowning Hypoxic-ischemic brain injury (e.g. drowning) can lead to widespread neuronal cell
death, cerebral edema, and increased intracranial pressure (ICP). Severely increased ICP can cause Cushing triad,
characterized by hypertension, bradycardia, and irregular respirations.

547. Neonatal Respiratory Distress Syndrome Bronchopulmonary dysplasia is a chronic complication

of prematurity caused by the arrest of pulmonary development and characterized by a prolonged oxygen requirement.
Histologic findings include a decreased number and septation of alveoli.

548. Necrotizing Enterocolitis Necrotizing enterocolitis should be suspected in an enterally fed,

premature or very-low-birth-weight infant with nonspecific apnea, lethargy, and abdominal distension. Pneumatosis
intestinalis on abdominal x-ray is diagnostic.

549. Cystic Fibrosis Patients with structural airway disease, especially cystic fibrosis and asthma, are
susceptible to allergic bronchopulmonary aspergillosis (ABPA). Allergic sensitization to Aspergillus spores is signified by
high levels of circulating IgE. ABPA must be suspected when there is unexplained lung function decline or persistent
lower respiratory infection symptoms despite adequate antibiotic therapy.

550. Respiratory Syncytial Virus Viral bronchiolitis typically presents in children age < 2 years with cough
and increased work of breathing (e.g. tachypnea, retractions). Diagnosis is typically clinical, but chest x-ray findings
include peribronchial cuffing, increased interstitial markings, and the absence of focal consolidation.

551. Obstructive Sleep Apnea Obstructive sleep apnea in children can present with secondary enuresis.
Severe cases can result in cardiovascular complications.

552. Blood Transfusion Transfusion-associated circulatory overload can occur when a large volume of
blood product is rapidly transfused, particularly in children age < 3 with chronic anemia. Signs include respiratory distress,
hypertension, tachycardia, and pulmonary edema within 6 hours of transfusion initiation. Management include diuresis
(e.g. furosemide).

553. Pneumothorax The risk of pneumothorax is increased in premature neonates, particularly those with
respiratory distress syndrome who are receiving mechanical ventilation. Transillumination reveals increased brightness on
the affected side. Hemodynamic instability or signs of tension pneumothorax (e.g. mediastinal shift) warrant emergency
 needle thoracostomy.

554. Diaphragmatic Hernia Congenital diaphragmatic hernia results in herniation of abdominal contents into
the thoracic cavity. Patients have respiratory distress at birth with absent breath sounds on the affected side, a barrel-
shaped chest, and a scaphoid abdomen. Chest x-ray shows intrathoracic bowel loops and a displaced cardiac silhouette.

555. Foreign Body Aspiration Foreign body aspiration should be considered in a patient with persistent
cough or wheezing following a choking episode. X-ray may reveal classic findings of unilateral lung hyperinflation and
mediastinal shift; however, x-ray findings also may be normal, and bronchoscopy is indicated if clinical suspicion remains
high.
556. Laryngotracheobronchitis Croup is a viral infection in which edema and narrowing of the proximal
trachea result in a barky cough and inspiratory stridor. Treatment with corticosteroids with or without nebulized
epinephrine decreases airway inflammation.

557. Obstructive Sleep Apnea Nighttime snoring and gasping for air is suspicious for obstructive sleep
apnea, which is commonly caused by adenotonsillar hypertrophy in children.

558. Transient Tachypnea Of Newborn Transient tachypnea of the newborn is a self-limited condition
caused by delayed resorption and clearance of pulmonary fluid and is more common in infants delivered by cesarean
section. Infants present shortly after birth with respiratory distress and fluid in the interlobar fissures on chest x-ray.

559. Drowning Drowning is defined as respiratory impairment after submersion in liquid. Aspirated
liquid causes hypoxemia and can wash out pulmonary surfactant, leading to insidious onset of acute respiratory distress
syndrome.
560. Bronchopulmonary Dysplasia Bronchopulmonary dysplasia (chronic lung disease of the neonate),
which causes a persistent oxygen requirement, is commonly seen in premature infants, especially in those requiring
prolonged mechanical ventilation or oxygen supplementation.

561. Community Acquired Pneumonia Parapneumonic effusions occur after bacterial pneumonias lead
to pleural inflammation and exudation of fluid into the pleural space. Small effusions in children without respiratory
distress can be managed with oral antibiotics and close outpatient follow-up. Moderate or large effusions require drainage.

562. Parapneumonic Effusion & Empyema Empyemas occur after bacterial pneumonia leads to bacterial
colonization of pleural fluid. Key pleural fluid findings include pH < 7.2, glucose < 60 mg/dL, neutrophil-predominant
leukocyte counts > 50,000/mm3, and Gram stain/culture positive for bacteria.

563. Pleural Effusion Chylothorax is an exudative effusion due to disruption of lymphatic flow within the
thoracic duct. Pleural fluid analysis demonstrates milky-white fluid with elevated triglycerides.

564. Respiratory Distress Syndrome Respiratory distress syndrome is caused by surfactant deficiency.
Important risk factors include prematurity and maternal diabetes mellitus.

565. Mediastinal Masses A large thymic silhouette is a normal finding on frontal chest x-ray in children
age < 3 years due to its relatively large size compared to the young child's thorax. Opacities in this location in other
children should raise concern for pneumonia or malignancy, depending on the clinical context.

566. Anaphylaxis Anaphylaxis is a severe allergic reaction characterized by hypotension or symptoms

involving > 2 organ systems after exposure to an allergen. Foods are the most common trigger, and intramuscular
epinephrine is the first-line treatment.

567. Anaphylaxis Intramuscular epinephrine is the first-line treatment for anaphylaxis, and additional doses
may be required for refractory symptoms. Patients with anaphylaxis to Hymenoptera stings should be referred to an
allergist for venom immunotherapy.
568. Cystic Fibrosis Staphylococcus aureus is the most common cause of bacterial pneumonia in young
children with cystic fibrosis, especially in those with coexisting influenza infection. For patients with severe pneumonia,
frequent hospitalizations, or recurrent skin infections, intravenous vancomycin should be included for empiric therapy
against methicillin-resistant S. aureus.

569. Immotile Cilia Syndrome Kartagener syndrome, a subgroup of primary ciliary dyskinesia, is
characterized by a classic triad of situs inversus, recurrent sinusitis, and bronchiectasis.

570. Respiratory Syncytial Virus Bronchiolitis is most commonly caused by respiratory syncytial virus and
manifests as upper respiratory symptoms, wheezing/crackles, and respiratory distress. Neonates are especially vulnerable
to complications such as apnea and respiratory failure.

571. Cystic Fibrosis Not all patients with cystic fibrosis are identified through newborn screening. Therefore,
the presence of nasal polyps, recurrent sinopulmonary infections, digital clubbing, and signs of pancreatic insufficiency
(e.g. poor growth, deficiency of fat-soluble vitamins) should prompt an evaluation.

572. Asthma Endotracheal intubation and mechanical ventilation are indicated in patients with severe asthma
unresponsive to maximal medical therapy and who have signs of impending respiratory arrest. Signs of respiratory failure
include altered mental status, minimal aeration, hypercarbia, and worsening hypoxemia.

573. Pneumothorax Severe coughing paroxysms can increase intra-alveolar pressure and cause air to leak into
subcutaneous tissues (i.e. subcutaneous emphysema), resulting in spontaneous pneumomediastinum. The first step in
management is chest x-ray to confirm the diagnosis and rule out pneumothorax.

574. Epiglottitis Epiglottitis presents with acute onset of respiratory distress (e.g. stridor, tripod
positioning), dysphagia, and drooling. First-line management of patients with impending respiratory failure is endotracheal
intubation in a controlled setting.

575. Neonatal Respiratory Distress Syndrome Respiratory distress syndrome should be suspected when
a premature infant presents with grunting, flaring, and retractions immediately after birth. Chest x-ray includes
characteristic fine reticular granularity of the lungs. Treatment includes early continuous positive air pressure ventilation.

576. Foreign Body Aspiration Sudden-onset respiratory distress with unilateral hyperinflation and
mediastinal shift on x-ray are concerning for foreign body aspiration. Rigid bronchoscopy can identify and remove the
aspirated object.

577. Diaphragmatic Hernia The first step in management of a newborn with suspected congenital
diaphragmatic hernia (CDH) is endotracheal intubation. A gastric tube should also be placed immediately to decompress
the stomach and bowel. Bag-and-mask ventilation can exacerbate respiratory decline and should be avoided.

578. Laryngotracheobronchitis Croup, a viral infection that causes subglottic edema and narrowing,
presents with barky cough and inspiratory stridor. Patients with stridor at rest are treated with corticosteroids and
nebulized epinephrine.

579. Poststreptococcal Glomerulonephritis Acute poststreptococcal glomerulonephritis, a type of

postinfectious glomerulonephritis, can occur several weeks after group A Streptococcus infection and presents with acute
renal failure. Most cases in the pediatric population resolve, with complete return to near-normal kidney function in a few
weeks. Recurrence is very rare.

580. Acute Kidney Injury Acute poststreptococcal glomerulonephritis, a complication of group A

Streptococcus infection (e.g. pharyngitis), typically presents with hematuria, edema, and hypertension. Management is
mainly supportive. Patients with complications of volume overload (e.g. hypertension, edema) require treatment with loop
diuretics.
581. Acute Kidney Injury Evaluation of neonatal acute kidney injury includes assessment of risk factors,
volume status, and a renal and bladder ultrasound (RBUS). RBUS documents the number, shape, and size of the kidneys
 and detects vascular abnormalities or congenital anomalies.

582. Acute Kidney Injury Patients with intravascular volume depletion (e.g. vomiting, diarrhea) normally
have increased renal prostaglandin production to dilate the afferent arteriole and maintain the glomerular filtration rate.
Nonsteroidal anti-inflammatory drugs inhibit prostaglandin synthesis, which can cause prerenal azotemia.

583. Acute Kidney Injury Serum creatinine at birth is equivalent to the serum creatinine of the mother
because creatinine passes across the placenta. In healthy term infants, creatinine normalizes over the first 2 weeks of life to
a nadir that reflects neonatal muscle mass.

584. Enuresis Primary nocturnal enuresis is defined as nighttime urinary incontinence in a child age > 5
who has not achieved a prolonged period of nighttime dryness. A family history of bed wetting is the greatest risk factor
for developing this condition.

585. Enuresis Nocturnal enuresis secondary to obstructive sleep apnea should be considered in a child
who has bed-wetting in addition to inattention, behavioral concerns, and/or tonsillar hypertrophy. Evaluation is with
nocturnal polysomnography.

586. Enuresis Encopresis (i.e. fecal incontinence) is typically a sign of stool impaction, which can cause
or worsen nocturnal enuresis. Resolution of enuresis is often achieved by successfully managing comorbid constipation
(e.g. laxative therapy).

587. Enuresis Chronic kidney disease is a cause of daytime and nighttime urinary incontinence and
should be suspected in a child with fatigue, hypertension, proteinuria, and/or a history of urinary tract infections.
Evaluation includes obtaining a serum creatinine level and renal imaging.

588. Enuresis Secondary enuresis, or new-onset nighttime wetting after a > 6-month period of urinary
continence, may be caused by an underlying medical condition (e.g. urinary tract infection) or a psychological stressor.
The first step in evaluation is urinalysis.

589. Hematuria Hemoglobinuria, in which free hemoglobin is present in the urine, should be suspected in
a patient with risk factors for intravascular hemolysis (e.g. mechanical valve) and red/brown urine that is heme positive
but negative for red blood cells. The first step in evaluation of hemolytic anemia is a complete blood count.

590. Hematuria Glomerular sources of gross hematuria should be considered in a patient with brown
urine, red blood cell casts, proteinuria, hypertension, and/or edema. Initial evaluation includes serum complement (C3, C4)
levels.
591. Hematuria Exercise-induced hematuria is a benign condition that can occur in long-distance runners
due to traumatic injury to the bladder mucosa from repeated collision of the bladder wall and base. The presence of urinary
red blood cells distinguishes this condition from exertional skeletal muscle injury causing myoglobinuria.

592. Hematuria Hematuria accompanied by dysuria and pyuria is most likely due to a urinary tract
infection, and the first step in management is antibiotic therapy. Resolution of hematuria is expected after treatment of
infection.
593. Wilms Tumor WAGR syndrome/11p deletion syndrome is characterized by a predisposition to Wilms
tumor and the presence of aniridia, genitourinary abnormalities, and intellectual disability (previously mental retardation).
WAGR syndrome should be considered in a child with 2 or more of the associated conditions. In patients with WAGR
syndrome, screening abdominal ultrasound is performed every 3 months in infancy and early childhood for early detection
of Wilms tumor.

594. Posterior Urethral Valve Posterior urethral valves present in newborn boys with bladder
distension, decreased urine output, and respiratory distress (due to oligohydramnios and subsequent lung hypoplasia).
Initial evaluation includes renal and bladder ultrasound and voiding cystourethrogram.
595. Wilms Tumor A secondary varicocele should be suspected in a prepubertal boy with a soft, coiled ('bag
of worms'), right-sided scrotal mass that fails to decompress when supine. Abdominal ultrasound is indicated to evaluate
for anatomical causes leading to venous compression (such as a venous thrombus or abdominal mass).

596. Urinary Tract Infection A voiding cystourethrogram is indicated to assess for predisposing urologic
abnormalities (e.g. vesicoureteral reflux) in a child with > 2 febrile urinary tract infections, abnormal renal ultrasound,
high fever with an unusual pathogen, or signs of chronic kidney disease.

597. Urinary Tract Infection Urinary tract infections typically improve within 48 hours of appropriate
antibiotic therapy. In children with persistent symptoms (e.g. fever), antibiotics should be broadened, and renal and
bladder ultrasonography should be obtained to evaluate for anatomic abnormalities or the development of a renal abscess.

598. Urinary Tract Infection Urinary tract infections are most commonly caused by gram-negative bacteria
(e.g. Escherichia coli) and can present with fever and fussiness in an infant. The presence of nitrites and leukocyte esterase
on urinalysis is characteristic. Empiric therapy with a third-generation cephalosporin is recommended.

599. Renal Calculi Young children may have an atypical presentation of nephrolithiasis with isolated gross
hematuria in the absence of abdominal or flank pain. Due to radiation exposure associated with CT scans, renal and
bladder ultrasound is the preferred imaging study in children to detect stones.

600. Poststreptococcal Glomerulonephritis Postinfectious glomerulonephritis is a complication of group A

streptococcal impetigo or pharyngitis. Pathogenesis involves deposition of immune complexes in the glomerular
mesangium and basement membrane, resulting in hematuria, edema, and hypertension.

601. Hypernatremia Isotonic solutions such as normal saline are the fluid of choice for initial resuscitation in
severe hypovolemic hypernatremia.

602. Renal Tubular Acidosis Renal tubular acidosis is caused by a defect in either hydrogen excretion or
bicarbonate reabsorption in the kidney. In infancy, it most commonly presents with failure to thrive due to a chronic,
normal anion gap metabolic acidosis. Treatment consists of oral bicarbonate replacement.

603. Posterior Urethral Valve Posterior urethral valves are the most common cause of urinary tract
obstruction in newborn boys. Oligohydramnios from urinary obstruction can lead to Potter sequence, which is
characterized by pulmonary hypoplasia, flat facies, and limb deformities.

604. Sickle Cell Hyposthenuria is the inability of the kidneys to concentrate urine and can occur in patients
with sickle cell disease and sickle cell trait. Patients have polyuria, low urine specific gravity, and normal serum sodium.

605. Henoch-Schönlein Purpura Henoch-Schönlein purpura is an IgA-mediated small vessel vasculitis that
manifests with palpable purpura on the lower extremities, arthralgia/arthritis, abdominal pain, and renal disease (hematuria
+/- proteinuria). Renal biopsy shows IgA deposition in the mesangium.

606. Urinary Tract Infection Urinary tract infections (UTIs) are most commonly caused by Escherichia coli
ascending the urethra to the bladder. Women often develop UTIs with dysuria, hematuria, and pyuria after sexual activity.
Positive urinary nitrites support the presence of E. coli, and urine culture is diagnostic.

607. Glomerular Disorders Minimal change disease is the most common cause of nephrotic syndrome in
preadolescent children. Renal biopsy shows normal kidney architecture but is not routinely obtained in patients age < 10.
Steroids are the treatment of choice.

608. Minimal Change Glomerulopathy Minimal change disease is the most common cause of nephrotic
syndrome in young children. Renal biopsy is not required for initial diagnosis as the condition is highly responsive to
steroids.
609. Urinary Tract Infection Urinary tract infection should be suspected in an infant with fever > 39 C (102.2
F) with no identifiable source because presentation can be nonspecific (e.g. fussiness, poor feeding). Urinalysis and urine
 culture are the first steps in evaluation.

610. Renal Calculi Cystinuria is an inherited disease causing recurrent renal stone formation. A personal
history of recurrent kidney stones from childhood and a positive family history for nephrolithiasis should raise suspicion
for the diagnosis. Urinalysis shows typical hexagonal crystals. The urinary cyanide-nitroprusside test is used as a
qualitative screening procedure.

611. Membranous Nephropathy Membranous nephropathy is a common cause of nephrotic syndrome

(edema, proteinuria, and hypoalbuminemia) in adolescents and adults. Active hepatitis B infection is an important risk
factor, and vaccination reduces this risk.

612. Urinary Tract Infection Severe vesicoureteral reflux can cause recurrent or chronic pyelonephritis.
Complications include parenchymal scarring, hypertension, and renal insufficiency. Definitive diagnosis is made by
voiding cystourethrogram.

613. Urinary Tract Infection Children age < 2 years with a first febrile urinary tract infection (UTI) should
receive 1-2 weeks of antibiotics and a renal and bladder ultrasound to evaluate for abnormalities that may lead to recurrent
UTIs.
614. Vesicoureteral Reflux Vesicoureteral reflux is a risk factor for recurrent urinary tract infections and, if
untreated, can lead to renal scar formation, hypertension, and chronic renal insufficiency. Scarring is focal due to chronic
interstitial inflammation and fibrosis.

615. Wilms Tumor Wilms tumor is the most common renal malignancy in children. Although it usually
presents as an asymptomatic abdominal mass, hematuria may occur in up to one-fourth of patients. Abdominal pain and
hypertension may also be present.

616. Diabetes Mellitus Enuresis in the setting of polyuria, polydipsia, and weight loss is suggestive of
new-onset type 1 diabetes mellitus.

617. Hypertrophic Pyloric Stenosis Pyloric stenosis presents at age 3-5 weeks with nonbilious, projectile
vomiting after each feed. Protracted vomiting produces a hypochloremic, hypokalemic metabolic alkalosis.

618. Enuresis Desmopressin is the first-line pharmacotherapy for nocturnal enuresis. It can provide
immediate improvement when behavioral modifications and alarm therapy have failed. When used as monotherapy, it has
a high rate of relapse on discontinuation of therapy.

619. Wilms Tumor Wilms tumor (nephroblastoma) is the most common renal malignancy in children. It
typically presents with an asymptomatic unilateral abdominal mass.

620. Poststreptococcal Glomerulonephritis Acute poststreptococcal glomerulonephritis occurs 1-4 weeks

after group A streptococcal pharyngitis or impetigo. Patients may be asymptomatic or have hematuria, hypertension, and
edema. Complement component C3 is low.

621. Proteinuria Transient proteinuria is a common cause of isolated proteinuria in children and is often
triggered by fever, stress, exercise, or hypovolemia. Confirmation of the diagnosis includes a normal first morning urine
protein/creatinine ratio and normal repeat urinalysis once the provoking factor is removed.

622. Alport Syndrome Alport syndrome is a progressive disease that presents with recurrent hematuria in
boys age < 10, often with a family history of renal failure and/or hearing loss. Complement levels are normal, and renal
biopsy shows longitudinal splitting of the glomerular basement membrane.

623. Constipation Chronic constipation is a risk factor for recurrent cystitis in toddlers. Impacted stool can
cause rectal distension, which in turn compresses the bladder, prevents complete voiding, and leads to urinary stasis.
624. IgA Vasculitis Henoch-Schönlein purpura is an IgA-mediated vasculitis most commonly seen in
children. Diagnosis is clinical, and no further testing is required in patients with palpable petechiae/purpura plus > 2 of the
following: arthralgia, abdominal pain, and renal disease. Skin biopsy is performed for atypical or incomplete presentations.

625. Clubfoot Clubfoot is a developmental deformity of the talus bone and presents as a fixed, plantar
flexed foot that is adducted and internally rotated. Initial treatment is stretching with serial molding casts.

626. Physical Exercise School-age children should participate in > 1 hour of daily activity, such as
aerobic exercise with or without strength (or resistance) training. Strength training is safe and effective when performed
properly, such as with direct supervision and use of proper techniques in a cognitively mature child.

627. Duchenne Dystrophy Duchenne muscular dystrophy should be considered in a toddler boy who has
weakness, delayed walking, and bilateral calf enlargement. The absence of dystrophin in cardiac muscle can also lead to
dilated cardiomyopathy and conduction abnormalities. Patients should be screened with an echocardiogram and ECG.

628. Juvenile Idiopathic Arthritis The oligoarticular form of juvenile idiopathic arthritis (JIA), the most
common subtype, is characterized by arthritis involving < 4 joints. Patients are classically girls age < 5. Regular
ophthalmologic screening is indicated because uveitis is a serious potential complication of oligoarticular JIA that can
cause irreversible vision loss if untreated.

629. Juvenile Idiopathic Arthritis Polyarticular juvenile idiopathic arthritis (JIA) presents as joint pain and
stiffness involving > 5 joints that is worse in the morning and improves over the course of the day. Individuals with
polyarticular JIA are predominantly female, and the incidence peaks during adolescence and the toddler years.
Nonsteroidal anti-inflammatory drugs (e.g. naproxen) are the first-line treatment.

630. Lower Extremity Long Bone Fracture Toddler's fractures, or spiral tibial fractures, are seen in children
during the first few years of walking. Injury typically occurs following a twisting motion during a minor fall. Spiral
fractures may be suspicious for nonaccidental trauma if the history is inconsistent or if the child is not yet ambulatory.

631. Greenstick Fracture Greenstick fractures of the forearm are common in children due to relatively
strong periosteum, which limits the fracture line from extending through the width of the bone. Treatment is
immobilization to prevent refracture, and no long-term complications are expected.

632. Transient Synovitis Transient synovitis is a self-limiting, inflammatory hip condition most common
in children age 3-8. Presentation may include limp (with ability to bear weight), hip pain, or pain referred to the knee.
Most patients are afebrile with normal laboratory studies (e.g. white blood cell count, C-reactive protein) and small,
bilateral hip effusions.

633. Slipped Capital Femoral Epiphysis Slipped capital femoral epiphysis, which occurs most commonly
among obese adolescents, is characterized by proximal femoral displacement relative to the femoral head along the growth
plate. Bilateral involvement is common and may present with chronic hip, thigh, or knee pain and a waddling gait.

634. Transient Synovitis Acute, atraumatic hip pain in children is typically caused by transient synovitis,
which presents in well-appearing children who are often afebrile and able to ambulate. However, patients with features
concerning for septic arthritis (e.g. inability to ambulate, leukocytosis) require bilateral hip ultrasound, with or without
arthrocentesis, to distinguish between the conditions.

635. Calcaneal Apophysitis Calcaneal apophysitis is a common cause of heel pain in children who play
running or jumping sports. Tenderness at the base of the heel and with calcaneal compression are diagnostic findings.
Treatment is supportive.

636. Septic Arthritis Septic arthritis is usually caused by gram-positive aerobic bacteria, particularly
Staphylococcus aureus. Therefore, empiric treatment with vancomycin is generally adequate. However, a minority of
patients have continued symptoms despite a few days of vancomycin treatment, which usually indicates infection with a
gram-negative bacterium. These patients require the addition of an antibiotic that covers aerobic gram-negative pathogens,
 such as a third-generation cephalosporin (e.g. ceftriaxone).

637. Septic Arthritis Neisseria gonorrhoeae contracted via unprotected sexual intercourse can cause
disseminated gonococcal infection, presenting with monoarticular arthritis with or without a pustular rash. Concurrent
features of gonococcal mucosal infection (e.g. cervicitis) are usually absent, and synovial fluid culture may be negative.

638. Septic Arthritis In patients with juvenile idiopathic arthritis who have an atypical flare of a single joint,
such as severe pain with nighttime awakening, septic arthritis should be considered. An elevated synovial leukocyte count
> 50,000/mm3 with a neutrophil predominance supports the diagnosis. Treatment is immediate antibiotic therapy.

639. Septic Arthritis The presentation of septic arthritis in infants can be subtle and may include fever, lack of
movement of the involved joint, excessive fussiness (e.g. during diaper changes), or asymmetric swelling.

640. Genu Varum Symmetric genu varum, or bowed legs, is typically physiologic from birth and resolves by
age 2. Management is reassurance and observation.

641. Child Abuse Metaphyseal corner fractures, or bucket-handle fractures, occur when an extremity is
pulled or twisted. These fractures are a red flag for child abuse and should prompt a skeletal survey to evaluate for
additional occult fractures.

642. Juvenile Idiopathic Arthritis Systemic juvenile idiopathic arthritis is an autoinflammatory disorder of
childhood characterized by arthritis for > 6 weeks and fever for > 2 weeks. Hepatosplenomegaly and lymphadenopathy are
common, and quotidian fevers (spiking once daily) are often accompanied by an evanescent pink rash.

643. Juvenile Idiopathic Arthritis Systemic juvenile idiopathic arthritis is characterized by quotidian fever
for > 2 weeks, fixed arthritis for > 6 weeks, and a pink macular rash that worsens during fever. Laboratory evaluation
typically reveals leukocytosis, thrombocytosis, elevated inflammatory markers, and anemia.

644. Bone Tumor Osteoid osteoma is a benign, bone-forming tumor that presents with increasing pain that
is worse at night and is unrelated to physical activity; the pain improves with nonsteroidal anti-inflammatory medication.
Radiograph demonstrates a single small, round lucency.

645. Bone Tumor Osteosarcoma is the most common primary bone tumor in children and young adults and
typically involves the metaphyses of long bones. Physical examination typically shows a large and tender mass. Classic x-
ray findings include 'sunburst' periosteal reaction and Codman triangle.

646. Upper Extremity Long Bone Fracture Compartment syndrome is a rare complication of supracondylar
humerus fractures, particularly those that are displaced or occur in conjunction with forearm fractures. Initial symptoms
may include increasing swelling and pain that is unresponsive to escalating analgesics.

647. Transient Synovitis Transient synovitis presents with hip pain and limp in young children following a
mild viral illness. In contrast to septic arthritis, patients are typically well-appearing, weight-bearing, and afebrile with
normal laboratory results (i.e. white blood cell count, inflammatory markers). Treatment is rest and nonsteroidal anti-
inflammatory medications (e.g. ibuprofen).

648. Osgood-Schlatter Disease Osgood-Schlatter disease, a common cause of knee pain in young
adolescents, is caused by a traction apophysitis of the tibial tubercle. Patients typically have pain exacerbated by activity,
and examination reveals prominence and tenderness over the tibial tubercle.

649. Slipped Capital Femoral Epiphysis Slipped capital femoral epiphysis (SCFE), which causes hip pain
and limp, is characterized by displacement of the proximal femur relative to the femoral head along the growth plate.
Obesity is a risk factor, but SCFE may also be seen in tall, thin adolescents during periods of accelerated growth.

650. Down Syndrome Patients with Down syndrome are at increased risk of atlantoaxial instability.
When symptomatic, atlantoaxial instability can present with upper motor neuron findings, urinary/fecal incontinence, gait
 changes, or weakness.

651. Rheumatic Fever Acute rheumatic fever, a complication of streptococcal pharyngitis, is diagnosed
clinically using the Jones criteria, which include fever, migratory polyarthritis, erythema marginatum, and elevated acute-
phase reactants.
652. Kawasaki Disease Patients with Kawasaki disease are at risk for developing coronary artery
aneurysms and thrombosis and should be routinely evaluated by echocardiography. Early treatment with intravenous
immunoglobulin and aspirin decreases cardiac risk.

653. Kawasaki Disease Kawasaki disease is a vasculitis characterized by fever for > 5 days and > 4 of the
following findings: nonexudative conjunctivitis, extremity changes, cervical lymphadenopathy, mucositis, and
polymorphous rash.

654. Osteogenesis Imperfecta Osteogenesis imperfecta is an autosomal dominant connective tissue

disorder that presents with frequent fractures, joint hypermobility, and dentinogenesis imperfecta. Additional features
include blue sclerae, hearing loss, and short stature.

655. Torticollis Congenital muscular torticollis is a postural neck deformity due to tightening of the
sternocleidomastoid muscle and presents with ipsilateral head tilt and contralateral chin deviation. A fibrotic neck mass
may be present on examination, and limited range of motion of the neck increases the risk of positional plagiocephaly.

656. Bone Tumor Langerhans cell histiocytosis frequently presents with lytic bone lesions and an
eczematous rash. Additional presenting signs can include central diabetes insipidus, lymphadenopathy,
hepatosplenomegaly, and cough.

657. Drug Allergy Serum sickness-like reaction is most commonly caused by β-lactams and sulfa drugs.
Symptoms arise 1-2 weeks after exposure and include fever, urticarial rash, arthralgia, and lymphadenopathy. The
abnormalities should resolve with withdrawal of the offending agent.

658. Trendelenburg Sign Drooping of the contralateral hemipelvis below its normal horizontal level during
monopedal stance constitutes a positive Trendelenburg sign. It is caused by weakness or paralysis of the gluteus medius
and minimus muscles, which are innervated by the superior gluteal nerve.

659. Legg-Calve-Perthes Disease Legg-Calve-Perthes disease (idiopathic osteonecrosis of the femoral

epiphysis) classically presents in young children with progressive leg pain and/or a limp. Decreased hip range of motion
and thigh muscle atrophy may be present on examination, and x-ray shows a flattened and fragmented femoral head.

660. Back Pain Spondylolisthesis is the anterior slippage of a vertebral body due to bilateral defects of the
pars interarticularis (spondylolysis). Classic presentation is an adolescent with low back pain exacerbated by lumbar
extension.
661. Lyme Disease Lyme arthritis is the hallmark of late Lyme disease due to Borrelia burgdorferi infection.
The presentation is most commonly a monoarticular arthritis of the knee that occurs in a weight-bearing, afebrile patient.
Synovial fluid analysis shows inflammation, but Gram stain and culture are usually negative.

662. Osteogenesis Imperfecta Osteogenesis imperfecta is an autosomal dominant connective tissue

disorder caused by mutations in the type I collagen (COL1A1) gene. Patients typically present with recurrent fractures,
joint hypermobility, short stature, and hearing loss.

663. Neonatal Evaluation Metatarsus adductus is a congenital foot deformity in which the forefoot turns
inward. In the majority of cases, the foot is flexible and the condition resolves spontaneously.

664. Radial Head Subluxation Radial head subluxation occurs when infants or children are lifted or
pulled by the hand or arm. The child typically keeps the hand in a pronated position and refuses attempted forearm
supination. Reduction by forearm hyperpronation or supination plus flexion is diagnostic and therapeutic.
665. Growing Pains Growing pains are bilateral, lower-extremity pains that occur at night in children age 2-12
years. Children with growing pains have no systemic symptoms, normal activity levels, and normal physical examination.
Treatment consists of observation, parental reassurance, massage, and over-the-counter pain medications.

666. Radial Head Subluxation Subluxation of the radial head is common in preschool children. The
classic mechanism is swinging or pulling a child by the arm. Full recovery after closed reduction by forearm
hyperpronation confirms the diagnosis.

667. Scoliosis Adolescent idiopathic scoliosis (i.e. lateral curvature of the spine) typically progresses
until growth and bone ossification are complete. Risk factors associated with curve progression include female sex, age <
12, premenarchal status, skeletal immaturity, and initial severe curvature.

668. Legg-Calve-Perthes Disease Legg-Calve-Perthes disease, or avascular osteonecrosis of the femoral

head, typically presents in boys age 3-12 with insidious-onset hip or (referred) knee pain and an antalgic gait. X-rays may
be normal in early disease but demonstrate abnormalities (e.g. femoral head flattening, fragmentation, sclerosis) with
chronic symptoms.

669. Slipped Capital Femoral Epiphysis Slipped capital femoral epiphysis is characterized by proximal
femoral displacement relative to the femoral head along the growth plate. Patients with hypothyroidism are at increased
risk due to impaired ossification of the growth plate. Treatment is surgical stabilization of the physis to prevent further
slippage.
670. Developmental Hip Dysplasia Suspected developmental dysplasia of the hip (e.g. asymmetric
gluteal/thigh/inguinal creases, apparent leg-length discrepancy) in early infancy should be evaluated with hip ultrasound.

671. Bone Tumor Ewing sarcomas are malignant tumors that occur most commonly in the pelvis and long
bones of white, adolescent boys. Localized pain and swelling can be accompanied by systemic findings and characteristic
'onion skinning' (i.e. lamellated periosteal reaction) and 'moth-eaten' appearance on x-ray.

672. Vitamin D Deficiency Rickets presents with craniotabes (soft skull bones), enlarged costochondral
joints, and progressive genu varum. Risk factors for nutritional rickets due to vitamin D deficiency include increased skin
pigmentation, limited sun exposure, and insufficient dietary intake (e.g. exclusive breastfeeding without vitamin D
supplementation).

673. Transient Synovitis Transient synovitis of the hip is a benign, self-limiting condition in children age
3-8 that typically presents with acute hip/thigh pain and limp following a viral illness. Patients are generally well-
appearing and afebrile without laboratory evidence of significant infection or inflammation. Treatment is supportive,
including nonsteroidal anti-inflammatories (e.g. ibuprofen).

674. Patient Safety According to human factors engineering, the most effective error-prevention strategies
include computerized automation and forcing functions, which promote correct action with minimal human effort. An
example is a heparin infusion pump with dosing algorithms (automating mathematical conversions) and preset limits
('blocking' excess drug administration).

675. Ethical Principles In Healthcare Informed consent by a parent or guardian is required prior to providing
nonemergency medical treatment to a minor. A court order is required if a parent refuses nonemergency yet life-sustaining
treatment.
676. Ethical Principles in Healthcare Parental consent is required prior to providing non-emergency medical
care for a minor who does not qualify for confidential care (e.g. pregnant) or is not emancipated (e.g. married). Assent
from the child is ideal but not required to proceed with treatment.

677. Ethical Principles in Healthcare Disclosure of an HIV diagnosis to a child with perinatally acquired
infection should occur by adolescence to foster patient autonomy, increase medication compliance, and prevent
transmission. The provider should respect the family's concerns and offer joint participation in establishing a timeline and
plan for disclosure.
678. Informed Consent Parent-requested drug testing without the knowledge of an adolescent is not
recommended. Responding to the request should include exploration of the parents' concerns, education about the
limitations of drug testing, and evaluation of the patient privately.

679. Informed Consent Parents who are themselves minors can give consent to medical care for their
child. However, consent is not required in emergency situations, and parents cannot refuse life-saving treatment for their
child.
680. Child Abuse Physicians should have a high suspicion for abuse in children with sudden changes in
mood, behavior, or academic work, as well as in children with stressful family environments or parents with active
drug/alcohol abuse.

681. Informed Consent When caring for an unemancipated minor, informed consent from one parent or
guardian is considered legally sufficient to justify proceeding with therapy. Physicians should also provide care in urgent
situations without waiting for parental consent.

682. Refusal Of Treatment In a non-emergency situation in which a parent refuses potentially life-saving
treatment for their child, the physician should seek a court order mandating treatment.