What is the treatment for Hirschsprung's disease?

Treatment for Hirschsprung Disease

Definitive Surgical Management

Hirschsprung disease requires surgical resection of the aganglionic bowel segment with pull-through of normally innervated intestine to the anal opening—this is the only definitive treatment. 1

Primary Surgical Approach

• Perform total transanal endorectal pull-through (TEPT) or laparoscopic-assisted transanal pull-through (LA-TAPT) as the primary surgical technique, both offering excellent outcomes with minimal invasiveness 2

• TEPT avoids pneumoperitoneum and transperitoneal approach, requiring no laparoscopic instrumentation, making it particularly suitable for younger infants 2

• LA-TAPT provides similar outcomes and may be preferred in older children or those with longer aganglionic segments 2

• Alternative acceptable procedures include the Soave endorectal pull-through, Duhamel-Martin procedure, or anorectal myectomy with low anterior resection 3

Critical Intraoperative Considerations

During the primary pull-through procedure, obtain intraoperative frozen section evaluation of the entire circumference of the bowel to confirm both ganglion cells AND normal-caliber nerves (fewer than two nerves ≥40 µm diameter per high-power field). 4

• This step is essential because the transition zone between aganglionic and ganglionic bowel is irregular, with variable ganglion cell quantities and numerous enlarged nerves 4

• Failure to resect all transition zone bowel is the most common cause of poor postoperative outcomes, found in 63% of patients requiring reoperation 4

• Ensure complete resection of the aganglionic segment to prevent persistent obstructive symptoms 1

Management of Postoperative Complications

Systematic Evaluation Algorithm

When patients develop persistent symptoms after surgery, evaluate systematically for:

1. Anatomic problems: Perform examination under anesthesia, contrast studies (barium enema), and endoscopy to identify strictures, retained aganglionic bowel, or anastomotic issues 1, 5

2. Inflammatory complications: Assess for Hirschsprung-associated enterocolitis through endoscopic evaluation and stool studies 1, 5

3. Motility disorders: Conduct anorectal manometry to measure anal sphincter function and colonic motility studies to identify internal sphincter achalasia or proximal dysmotility 1, 5

4. Behavioral factors: Evaluate for functional megacolon caused by stool-holding behavior 5

Specific Postoperative Problems and Treatment

For obstructive symptoms:

• First exclude anatomic obstruction (stricture, retained transition zone, or aganglionic bowel) through contrast studies and examination under anesthesia 1, 5
• If internal sphincter achalasia is identified on manometry, inject botulinum toxin into the anal sphincter 1
• Consider redo pull-through operation only after exhausting medical management and botulinum toxin therapy 1

For enterocolitis:

• Treat with antibiotics (typically metronidazole) and rectal irrigations 1
• Ensure adequate bowel decompression and evaluate for mechanical obstruction as a precipitating factor 5

For fecal incontinence:

• Perform anorectal manometry to assess sphincter function and rectal sensation 1
• Initiate bowel management program with scheduled toileting and dietary modifications 5
• Consider biofeedback therapy for older children with sphincter dysfunction 1

For perianal dermatitis:

• This occurs more commonly after TEPT, particularly in younger infants (28% incidence) 2
• Manage with barrier creams and meticulous perineal hygiene 2

Reoperation Indications

Perform redo pull-through surgery only when:

• Retained transition zone or aganglionic bowel is confirmed histologically 4
• Severe anatomic stricture unresponsive to dilation is present 1
• Medical management and botulinum toxin have failed for severe obstructive symptoms 1

During reoperation, the Duhamel procedure may require revision if a retained rectal septum is causing persistent constipation 3

Long-Term Interdisciplinary Management

• These patients require complex, ongoing interdisciplinary care involving pediatric surgery, gastroenterology, and psychology to ensure adequate quality of life 5

• Continue surveillance for late complications including acquired motility disorders in the proximal colon or small bowel 5

• Address behavioral components of constipation through psychological support and bowel management programs 5