What is the management of Hirschsprung's disease?

Management of Hirschsprung's Disease

Hirschsprung's disease requires surgical resection of the aganglionic bowel segment with pull-through of normally innervated intestine to the anus, using techniques such as Swenson, Soave, or Duhamel procedures, with transanal approaches now preferred as the standard first-line surgical approach. 1, 2

Diagnosis and Preoperative Evaluation

• Confirm diagnosis with rectal biopsy demonstrating absence of ganglion cells in the myenteric and submucosal plexuses, after visualizing a transition zone on contrast enema 2
• The disease is characterized by absent peristalsis in the affected distal bowel, creating functional intestinal obstruction 3
• Most patients present in the neonatal period with delayed first meconium passage beyond 24 hours, abdominal distension, and vomiting 2
• Screen for associated syndromes including trisomy 21, Mowat-Wilson syndrome, congenital central hypoventilation syndrome, Shah-Waardenburg syndrome, and cartilage-hair hypoplasia 2

Surgical Management

The transanal pull-through procedure is now the preferred surgical approach, consisting of rectal mucosectomy, resection of aganglionic bowel, and colo-anal anastomosis 3

• This minimally invasive one-stage procedure offers favorable preliminary results and is cost-effective compared to traditional approaches 3
• Alternative techniques include Swenson, Soave, and Duhamel procedures, which may incorporate laparoscopically assisted approaches 2
• The surgical goal is complete removal of the aganglionic segment while preserving normal sphincter function 1, 2

Postoperative Management and Complications

Early Postoperative Period

• Monitor for immediate complications including anastomotic leak, stricture formation, and wound infection 4
• Implement bowel management protocols to prevent straining during recovery 5

Late Complications Requiring Systematic Evaluation

When patients develop persistent symptoms after surgery, perform a structured evaluation to identify the specific pathophysiological mechanism 1, 4:

Obstructive Symptoms

• Conduct examination under anesthesia to assess for mechanical obstruction 1
• Obtain contrast studies to visualize anatomic abnormalities 1
• Consider causes: persistent mechanical obstruction, recurrent or acquired aganglionosis, internal sphincter achalasia, or anastomotic stricture 4

Enterocolitis

• Perform endoscopic studies to evaluate for inflammatory changes 1
• This remains a significant complication even after successful surgery 2

Fecal Incontinence/Soiling

• Measure anal sphincter function with anorectal manometry 1
• Assess for sphincter injury during surgery or functional abnormalities 4

Disordered Motility

• Obtain colonic motility studies when symptoms suggest proximal dysmotility 1
• Evaluate for disordered motility in the proximal colon or small bowel 4

Functional Megacolon

• Distinguish stool-holding behavior from organic causes through behavioral assessment 4

Treatment of Postoperative Complications

Treatment must be tailored to the identified pathophysiological mechanism 1:

• Medical management for mild symptoms or motility disorders 1
• Botulinum toxin injection to the anal sphincter for internal sphincter achalasia 1
• Redo-operation reserved for severe anatomic problems refractory to conservative measures 1
• These patients require complex interdisciplinary care to ensure adequate quality of life 4

Special Considerations

• Ultrashort-segment Hirschsprung disease may present later in childhood with chronic constipation rather than neonatal symptoms 6
• The disease has multiple clinical, histological, and radiological variations, making it one of the most difficult pediatric surgical diagnoses 6
• Multiple putative genes are involved, with RET proto-oncogene and EDNRB being most common 2

Critical Pitfalls to Avoid

• Do not delay surgical intervention once diagnosis is confirmed, as this increases risk of enterocolitis and toxic megacolon
• Do not assume all postoperative symptoms are surgical failures—systematically evaluate for treatable medical causes before considering reoperation 1
• Do not overlook behavioral factors such as stool-holding that can mimic organic obstruction 4
• Ensure complete resection of aganglionic segment during initial surgery, as retained aganglionic bowel is a common cause of persistent symptoms 4