Hirschsprung disease management

Hirschsprung disease management

Hirschsprung disease management

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🧠 Pathophysiology - No Nerves, No Go

  • Core Defect: Congenital aganglionosis of the distal GI tract, primarily the colon.
  • Mechanism: Arrest of craniocaudal migration of neural crest cells during weeks 5-12 of gestation.
  • Result: Absence of ganglion cells in the submucosal (Meissner's) and myenteric (Auerbach's) plexuses.
  • Genetics: Strongly associated with loss-of-function mutations in the RET proto-oncogene.
  • Location: Always affects the rectum and extends proximally for a variable distance.

⭐ The aganglionic segment cannot relax, remaining tonically contracted. This causes a functional obstruction, leading to proximal bowel dilation.

Hirschsprung disease: Normal vs aganglionic rectal biopsy

🔍 Diagnosis - Spotting the Stuck Spot

Clinical Red Flags in Newborns:

  • Failure to pass meconium within 48 hours.
  • Bilious emesis.
  • Progressive abdominal distension.
  • 💡 "Squirt sign": Explosive release of stool/gas on digital rectal exam (DRE) is highly suggestive.

Diagnostic Pathway:

Hirschsprung disease: Barium enema transition zone

  • Contrast Enema: Key initial test. Visualizes a narrow distal segment (aganglionic) and a dilated proximal colon (normally innervated), defining the "transition zone."
  • Anorectal Manometry: Useful screening test. Shows failure of internal anal sphincter relaxation upon rectal balloon distension (absent RAIR).
  • Rectal Suction Biopsy (Gold Standard): Definitive diagnosis. Histology shows an absence of ganglion cells in the submucosal plexus.

⭐ A full-thickness biopsy is required to assess for ganglion cells in both the submucosal (Meissner) and myenteric (Auerbach) plexuses.

✂️ Management - The Great Pull-Through

The management of Hirschsprung disease is a two-stage process: initial stabilization followed by definitive surgical correction.


  • Initial Stabilization (Pre-operative)
    • Goal: Decompress the obstructed proximal bowel, prevent Hirschsprung-Associated Enterocolitis (HAEC) and perforation.
    • Key interventions:
      • NPO (Nil Per Os)
      • IV fluids for hydration and electrolyte correction.
      • NG decompression to relieve proximal distention.
      • Serial rectal irrigations with saline to evacuate stool.

⭐ The primary goal of initial management is to decompress the obstructed proximal bowel to prevent perforation and prepare for definitive surgery.

  • Definitive Treatment: The Pull-Through
    • Surgical resection of the aganglionic segment.
    • The normal, ganglionic bowel is then "pulled through" and anastomosed to the anus.
    • Commonly performed procedures:
      • Swenson: Original full-thickness resection.
      • Soave: Endorectal pull-through (leaves a muscular cuff).
      • Duhamel: Retrorectal pull-through.

Hirschsprung Pull-Through Surgery Diagram

⚠️ Post-Op Perils

  • Hirschsprung-Associated Enterocolitis (HAEC): The most common and life-threatening complication, occurring pre- or post-operatively. Presents as a toxic megacolon-like state.

    ⭐ HAEC manifests with fever, explosive foul-smelling diarrhea, and abdominal distension. Management is urgent: NPO, IV fluids, broad-spectrum antibiotics, and decompressive rectal irrigations.

  • Anastomotic Complications:

    • Leak: Early post-op; presents with fever, abdominal pain, and signs of peritonitis.
    • Stricture: Late post-op; causes recurrent constipation and obstructive symptoms.
  • Chronic Dysmotility:

    • Persistent constipation
    • Fecal incontinence/soiling

⚡ Biggest Takeaways

  • Gold standard diagnosis: Rectal suction biopsy showing absent ganglion cells in the submucosal plexus.
  • Contrast enema is the best initial imaging test, revealing a transition zone.
  • Initial management: Bowel decompression (NG tube, rectal irrigation) and fluid resuscitation.
  • Definitive treatment: Surgical resection of the aganglionic segment via a pull-through procedure.
  • Most feared complication: Hirschsprung-associated enterocolitis (HAEC), which can be fatal.
  • Strongly associated with Down syndrome and MEN 2A/2B.

Practice Questions: Hirschsprung disease management

Test your understanding with these related questions

A 4-month-old girl is brought to the office by her parents because they noticed a mass protruding from her rectum and, she has been producing green colored emesis for the past 24 hours. Her parents noticed the mass when she had a bowel movement while changing her diaper. She strained to have this bowel movement 24 hours ago, shortly afterwards she had 3 episodes of greenish vomiting. She has a past medical history of failure to pass meconium for 2 days after birth. Her vital signs include: heart rate 190/min, respiratory rate 44/min, temperature 37.2°C (99.0°F), and blood pressure 80/50 mm Hg. On physical examination, the abdomen is distended. Examination of the anus reveals extrusion of the rectal mucosa through the external anal sphincter, and digital rectal examination produces an explosive expulsion of gas and stool. The abdominal radiograph shows bowel distention and absence of distal gas. What is the most likely cause?

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Flashcards: Hirschsprung disease management

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Short bowel syndrome is most commonly seen in patients who have had _____

TAP TO REVEAL ANSWER

Short bowel syndrome is most commonly seen in patients who have had _____

small intestine resection

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