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: Dec 25 2021

Hirschsprung Disease

Images
https://upload.medbullets.com/topic/120612/images/hirschsprungs disease.jpg
https://upload.medbullets.com/topic/120612/images/hirschsprungs3..jpg
  • Snapshot
    • A newborn infant has not passed meconium in 2 days. Distended abdomen is appreciated on exam. During digital rectal examination, gas and stool is explused. Distended loops of bowel and an absence of gas in the rectum is seen on abdominal radiography.
  • Introduction
    • Congenital megacolon
      • functional (vs mechanical) intestinal obstruction
  • Epidemiology
    • Boys > girls (4:1)
  • ETIOLOGY
    • Pathogenesis
      • absence of ganglion cells/enteric nervous plexus in intestine
        • Auerbach’s myenteric plexus
        • Meissner’s submucosal plexus
      • 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
      • MEN2
      • Waardenburg’s syndrome
  • 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
  • Imaging
    • Abdominal radiography
      • distended bowel loops
      • lack of air in rectum
    • Contrast enema – best initial test
      • retention of barium for > 24 hours
      • funnel-shaped transition zone
  • STUDIES
    • Manometry
      • ↑ pressure in anal sphincter
  • Differential
    • Imperforate anus
    • Functional constipation
    • Intussusception
    • Duodenal atresia
    • Meconium ileus
  • DIAGNOSIS
    • Gold standard diagnosis
      • rectal suction biopsy
        • lack of ganglionic cells in submucosa
  • Treatment
    • Supportive care
    • Surgical resection
      • removal of affected bowel section
      • if entire colon is involved, diverting ileostomy with appendectomy
  • Complications
    • ↑ risk of enterocolitis
      • most common cause of death
    • Rupture
  • Prognosis
    • Very good
    • Overall mortality < 1%
    • Normal quality of life in most patients
Card
1 of 0
Question
1 of 4
Private Note