Pediatric Surgery: Hirschsprung’s Disease

Basics

• “Congenital Aganglionic Megacolon”
• Cause: Failure of Neural Crest Cells to Migrate Caudally
  • Ganglion Cells That Do Fully Migrate May Fail to Survive or Proliferate
• Most Often Involves the Rectum/Rectosigmoid but Can Involve the Entire Colon or Small Bowel
• Most Common Cause of Colon Obstruction in Peds
• Most Common Gene Mutation: RET

Presentation

• 90% Present in Neonatal Period but May Present Later in Childhood or as Adults
  • Adults: *See Anorectal: Hirschsprung’s Disease
• Symptoms:
  • Failure to Pass Meconium
  • Abdominal Distention
  • Bilious Vomiting
  • Feeding Intolerance
  • Enterocolitis
  • Chronic Constipation
• “Blast Sign” on Anorectal Exam

Hirschsprung’s Associated Enterocolitis (HAEC)

• Functional Obstruction with Stasis Allows Bacterial Overgrowth
• Present in 10% of Children with Hirschsprung’s
• Symptoms: Abdominal Distention, Vomiting, Fever & Diarrhea
• Treatment:
  • Stable: Conservative (NPO, Antibiotics & Rectal Irrigations)
  • Unstable: Colostomy to Decompress

Diagnosis

• Supportive Radiology:
  • Contrast Enema – Demonstrates a Transition Point
  • Anorectal Manometry
• Definitive Diagnosis: Rectal Biopsy
  • Path: Absent Ganglion in Auerbach/Myenteric Plexus
  • Should Be Taken ≥ 1.0-1.5 cm Above the Dentate Line (Normal Paucity of Ganglion Below This Level)
  • Type of Biopsy:
    • Infants: Suction Biopsy
    • Children: Punch or Full-Thickness Biopsy
      • Suction Not Deep Enough in Older Children
• Avoid Biopsy in Premature Infants – Wait Until Near-Term Age
  • Increased Risk of Complication & Immaturity Causes Difficulty in Recognizing Ganglion Cells
• If No Identifiable Transition Zone or Long-Segment Disease: Consider Laparoscopic Leveling Biopsies to Determine Level of Transition