Please confirm topic selection

Are you sure you want to trigger topic in your Anconeus AI algorithm?

Please confirm action

You are done for today with this topic.

Would you like to start learning session with this topic items scheduled for future?

Updated: Aug 28 2018

Hirschsprung Disease

  • 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
1 of 0
1 of 3
Private Note

Attach Treatment Poll
Treatment poll is required to gain more useful feedback from members.
Please enter Question Text
Please enter at least 2 unique options
Please enter at least 2 unique options
Please enter at least 2 unique options