Hirschsprung's disease

Background

  • Congenital aganglionosis of colon
    • Usually rectosigmoid area
      • Short segment affects rectum and small amount of distal colon
      • Long segment affects more of colon, proximal intestine
    • Rarely involves more proximal intestine
  • 30% associated with a syndrome
  • 1:5,000 live births

Clinical Features

  • Delayed meconium passage after birth
  • 80% present within first month of life
    • May have delayed presentation in milder disease
  • Chronic constipation
    • Encopresis
    • Rectal prolapse
  • Obstruction symptoms
    • Neonatal toxic megacolon may occur
      • Distended abdomen, bilious vomiting, enterocolitis
  • Enterocolitis
    • Diarrhea, rectal bleeding, abdominal distention, fever

Differential Diagnosis

  • Meconium ileus
    • Cystic fibrosis
  • Imperforate anus
  • Constipation
  • Bowel obstruction

Evaluation

  • KUB distended colon, empty rectum
    • Enterocolitis: distention, bowel wall thickening
    • Obstruction: air fluid levels
  • Diagnosis requires rectal biopsy (consult GI)

Management

  • Consult pediatric surgeon for operative management
  • Treat enterocolitis with broad spectrum antibiotics

Disposition

  • Admit if symptoms of obstruction, enterocolitis

See Also

External Links

References