Hirschsprung's disease

Background

Average inner diameters and ranges of different sections of the large intestine.

(A) Showing point of calibre change in the colon. (B) Resection of the aganglionic bowel and the severely dilated proximal colon.

• Congenital aganglionosis of colon
• Usually affects 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

Three patients with late-diagnosis disease demonstrating abdominal distention.

• 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

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
  • Hypothyroidism
  • Hypercalcemia
  • Hypokalemia
  • Diabetes insipidus
• Heavy-metal poisoning
• Medication side effects

Evaluation

Abdominal X-ray showing: (A) Faecal stasis and huge dilated transverse colon. (B) Air fuid levels and cut-off sign.

Barium enema in neonate with Hirschsprung disease shows transitional zone and cobblestone appearance.

Barium enema in a 1-month-old male with Hirschsprung disease depicts bizarre irregular contraction.

• 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
• ED management may include gastric and rectal decompression
• Treat enterocolitis with broad spectrum antibiotics
• Supportive fluid and electrolyte replacement

Disposition

• Admit if symptoms of obstruction, enterocolitis

See Also

• Constipation (peds)