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Hirschsprung's disease
From WikEM
Contents
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
- Usually rectosigmoid area
- 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
- Neonatal toxic megacolon may occur
- Enterocolitis
Differential Diagnosis
Infant Constipation
- Constipation
- Hirschsprung's disease
- Congenital anorectal malformations
- Imperforate anus
- Bowel obstruction
- Neurologic disorders
- Encephalopathy
- Spinal cord abnormalities: myelomeningocele, spina bifida, tethered cord
- Meconium ileus
- Cystic fibrosis
- Metabolic causes
- Heavy-metal poisoning
- Medication side effects
Evaluation
- KUB distended colon, empty rectum
- Enterocolitis: distention, bowel wall thickening
- Obstruction: air fluid levels
- Barium/contrast enema will show narrowed colon and dilated intestine above
- Sensitivity 70% and specificity of 83%
- 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
