What is the recommended treatment for a pediatric patient suspected of having Hirschsprung's disease?

Hirschsprung Disease: Diagnosis and Management

Immediate Management for Suspected Cases

Any neonate presenting with delayed passage of meconium beyond 24-48 hours, abdominal distension, and bilious vomiting should be immediately placed NPO, receive IV fluid resuscitation to correct dehydration and electrolyte abnormalities, undergo nasogastric tube decompression, and receive urgent pediatric surgical consultation. 1

Critical Warning Signs Requiring Immediate Action

• Bilious vomiting in any neonate mandates immediate pediatric surgical consultation 1
• Delayed passage of first meconium beyond 24-48 hours of life 1
• Abdominal distension with obstructive symptoms 1, 2
• Full-term male infants with these symptoms have highest likelihood of Hirschsprung disease 2

Diagnostic Algorithm

Step 1: Initial Imaging

• Plain abdominal radiographs to evaluate for bowel obstruction patterns 1
• Look for dilated loops of bowel, air-fluid levels, and absence of distal gas 1

Step 2: Contrast Enema

• Contrast enema demonstrates transition zone between dilated proximal bowel and narrowed distal aganglionic segment with 80% sensitivity 1
• Critical limitation: 20% false-negative rate - contrast enema is a screening tool only, NOT definitive for excluding Hirschsprung disease 1
• If contrast enema is negative but clinical suspicion remains high, proceed directly to rectal biopsy 1

Step 3: Definitive Diagnosis - Rectal Biopsy

• Rectal biopsy is the gold standard for diagnosis, demonstrating absence of ganglion cells in myenteric and submucosal plexuses 3
• Biopsy should be performed by pediatric surgery for infants with classic symptoms (delayed meconium, obstruction, distension) 2
• Pediatric surgeons are 6 times more likely to obtain adequate biopsies (OR 6.0,95% CI 2.9-12.4) and 6.7 times more likely to obtain positive biopsies (OR 6.7,95% CI 2.1-21.2) compared to gastroenterologists in infants with classic presentation 2

Ancillary Diagnostic Tests

• Acetylcholinesterase histochemistry or calretinin immunohistochemistry are complementary to H&E staining when diagnosis is challenging 3
• Anorectal manometry may be used as diagnostic screen but does not replace biopsy 3

Patient Characteristics Associated with Positive Diagnosis

Hirschsprung disease is significantly more likely in patients with: 2

• Delayed passage of meconium (p<0.001)
• Obstructive symptoms (p<0.001)
• Trisomy 21 (p<0.001)
• Full-term gestation (p=0.03)
• Male gender (p=0.02)

Screening for Associated Conditions

All patients with confirmed Hirschsprung disease must be screened for associated syndromes, particularly congenital central hypoventilation syndrome (CCHS) in patients with PHOX2B mutations, especially PARM 20/26 and higher 1

Surgical Management

Timing and Approach

• Most patients are now treated with transanal approach to resection as the preferred surgical technique 4
• For total colonic Hirschsprung disease (TCHD), a staged approach is recommended with specific timing considerations for pull-through 5

Total Colonic Hirschsprung Disease (TCHD) Specific Considerations

TCHD requires specialized pre- and postoperative management including: 5

• Staged surgical approach
• Specific bowel management protocols
• Dietary modifications
• Antibiotic prophylaxis
• Colonic irrigations
• Enhanced post-surgical monitoring

Postoperative Management and Complications

Early Complications

Monitor for immediate postoperative issues requiring surgical re-evaluation 4

Late Complications Requiring Ongoing Management

Persistent defecation problems occur frequently and require interdisciplinary care, including: 6, 4

• Fecal incontinence - requires systematic evaluation and management per NASPGHAN guidelines 6
• Postoperative obstructive symptoms including constipation 6, 4
• Hirschsprung-associated enterocolitis - life-threatening complication requiring immediate recognition 6
• Persistent mechanical obstruction 4
• Recurrent or acquired aganglionosis 4
• Disordered motility in proximal colon or small bowel 4
• Internal sphincter achalasia 4
• Functional megacolon from stool-holding behavior 4

Long-Term Follow-Up

Children with Hirschsprung disease require complex interdisciplinary care involving pediatric surgery and gastroenterology to ensure adequate quality of life, as postoperative defecation problems significantly impact morbidity, mortality, and quality of life 6, 4

Critical Pitfalls to Avoid

• Never rely solely on contrast enema to exclude Hirschsprung disease - 20% false-negative rate mandates rectal biopsy when clinical suspicion persists 1
• Do not delay surgical consultation for bilious vomiting - this is a surgical emergency 1
• Older children with constipation require collaborative workup between pediatric surgery and gastroenterology, not surgery alone 2
• Do not assume surgery is curative - most patients have ongoing long-term defecation concerns requiring continued management 6