Updated: 12/25/2021

Hirschsprung Disease

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  • 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
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(M2.PD.15.45) A 2-week-old boy presents to general pediatrics clinic with constipation. His mother reports that he has not had a bowel movement for over 5 days and is quite concerned. On further examination, you discover that the boy is in the 5th percentile for weight. Physical examination shows a distended abdomen. Rectal examination shows an absence of stool in the rectal vault. A contrast enema reveals the following seen in Figure A. A rectal biopsy is performed (Figure B). Which of the following is true regarding this illness?

QID: 106307
FIGURES:

The disease more commonly affects females than males

4%

(1/26)

Trisomy 18 is a risk factor for this disease

4%

(1/26)

The vast majority of the cases of this illness affect the entire length of the bowel

0%

(0/26)

MEN I is a risk factor for this disease

0%

(0/26)

The mainstay of treatment is surgical

88%

(23/26)

M 6 E

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