Updated: 8/28/2018

Hirschsprung Disease

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Topic
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Questions
3
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Evidence
4
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Topic
Snapshot
  • A 2-day-old neonate is noted in the well-baby nursery to have some abdominal distention.  He had one episode of bilious vomiting. He is feeding well and does not seem altered. However, his mom is concerned that he has not passed any stool yet. Abdominal radiography shows distended loops of bowel. A barium enema shows a dilated colon with a funnel-shaped transition zone.  Pediatric surgery is consulted for biopsy and surgical correction.
Introduction
  • Congenital megacolon
    • functional (vs mechanical) intestinal obstruction
  • Pathogenesis 
    • absence of ganglion cells/enteric nervous plexus in intestine
    • lack of nerves causes constant contraction 
    • failure of neural crest cell migration
    • 99% localized in rectum
  • Genetics
    • associated with mutations in RET gene
  • Associated conditions
    • risk ↑ with Down syndrome
    • risk ↑ with Chagas disease
      • acquired disease as a result of amastigote destruction of ganglion cells
Presentation
  • Symptoms
    • bilious vomiting
    • failure to pass meconium in first 48 hours of life
    • chronic constipation
    • large bowel obstruction
  • Physical exam
    • abdominal distention
    • extremely tight anal sphincter
    • no stool in rectal vault
Evaluation
  • Gold standard diagnosis
    • rectal suction biopsy
      • lack of ganglionic cells in submucosa
  • Imaging
    • abdominal radiography
      • distended bowel loops
      • lack of air in rectum
Differential Diagnosis
  • Imperforate anus
  • Functional constipation
  • Intussusception
  • Duodenal atresia 
  • Meconium ileus
Treatment
  • Supportive care
  • Surgical resection
Prognosis, Prevention, and Complications
  • Prognosis
    • very good
    • overall mortality < 1%
    • normal quality of life in most patients
  • Complications
    • ↑ risk of enterocolitis
    • rupture

Please rate topic.

Average 4.0 of 8 Ratings

Questions (3)

(M1.GI.14.62) You are examining a 2-day-old male infant with abdominal distension and bilious vomiting. His mother informs you that he has not yet had a bowel movement. On exam, you note a release of stool with digital disimpaction. An abdominal radiograph is shown in Figure A. What is the most likely cause of his condition?

QID: 106448
FIGURES:
1

Maternal diabetes mellitus

1%

(3/234)

2

Mutation of the CFTR gene

4%

(9/234)

3

Failure of canalization of the duodenal lumen

14%

(32/234)

4

Hypertrophy of the muscularis externa of the pyloric sphincter

4%

(10/234)

5

Failure of neural crest cell migration

76%

(178/234)

M 1 E

Select Answer to see Preferred Response

(M1.GI.12.8) A 5-day-old male is brought to your office by his mother. The infant is experiencing bilious vomiting, abdominal distension, and overall failure to thrive. A contrast enema shows a transition point at the transverse colon between dilated ascending colon and non-distended distal portion of the colon. Which of the following is the most likely etiology of this patient's disease?

QID: 101902
1

Muscle hypertrophy

3%

(3/90)

2

Mechanical bowel obstruction

11%

(10/90)

3

CFTR gene mutation

3%

(3/90)

4

Meiotic nondisjunction

2%

(2/90)

5

Failure of neural crest cell migration

79%

(71/90)

M 1 E

Select Answer to see Preferred Response

(M1.GI.12.103) Two days following the home birth of her son, a mother brings the infant to the pediatric emergency room because of bilious vomiting. He is unable to pass meconium and his abdomen is distended. Endoscopic biopsy of the proximal colon demonstrates an absence of Meissner’s and Auerbach’s plexi in the bowel wall. Which of the following is the most likely diagnosis?

QID: 101160
1

Hirschsprung’s disease

95%

(163/171)

2

Ileocecal intussusception

1%

(1/171)

3

Meckel’s diverticulum

1%

(2/171)

4

Juvenile polyposis syndrome

1%

(1/171)

5

Volvulus of the sigmoid colon

0%

(0/171)

M 2 E

Select Answer to see Preferred Response

Evidence (4)
EXPERT COMMENTS (8)
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