What is the diagnosis and treatment for a pediatric patient with suspected Hirschsprung's disease?

Hirschsprung Disease: Diagnosis and Management

Diagnosis

Hirschsprung disease (HSCR) is definitively diagnosed by demonstrating the absence of ganglion cells in the distal bowel through full-thickness rectal biopsy. 1, 2

Clinical Presentation

• Neonates: Bilious vomiting, failure to pass meconium within 48 hours of birth, and abdominal distension 3
• Infants and children: Chronic severe constipation requiring enemas and cathartics, failure to thrive, and recurrent episodes of enterocolitis 4
• Adolescents/adults: Lifelong refractory constipation often misdiagnosed for years 4

Diagnostic Workup

• Contrast enema: Shows transition zone between dilated proximal bowel and narrowed aganglionic distal segment 4
• Full-thickness rectal biopsy: Gold standard demonstrating absence of ganglion cells in the myenteric plexus 1, 4
• Examination under anesthesia: May be needed to assess anatomy and exclude other causes 1

Screen for Associated Conditions

Document any associated syndromes, particularly Congenital Central Hypoventilation Syndrome (CCHS), which occurs in 87-100% of patients with non-polyalanine repeat mutations and 13-20% with polyalanine repeat mutations. 3, 5 Other associations include:

• 22q11.2 deletion syndrome (rare but documented) 3
• Cardiac anomalies 3
• Genitourinary abnormalities 3

Surgical Treatment

Primary endorectal pull-through (PERPT) is now the definitive surgical therapy for HSCR and the preferred method of treatment. 6

Surgical Approach Selection

• Single-stage PERPT: Appropriate for most patients with short-segment disease, timely diagnosis, and stable clinical condition 6
• Two-stage repair with temporary diverting colostomy: Required in up to one-third of patients with:
  • Long-segment or total colonic aganglionosis 6
  • Markedly dilated proximal colon from delayed diagnosis 6
  • Clinical instability or severe enterocolitis 6

Alternative Surgical Techniques

• Duhamel retrorectal pull-through: Acceptable alternative but may require reoperation for retained rectal septum 4
• Soave endorectal pull-through: Acceptable method with good outcomes 4
• Anorectal myectomy with low anterior resection: Acceptable for adult patients 4

Postoperative Management

Immediate Postoperative Period

• Monitor for Hirschsprung-associated enterocolitis (HAEC): PERPT patients may have slightly higher risk compared to two-stage repairs 6
• Assess for obstructive symptoms: Perform examination under anesthesia if persistent 1

Long-term Complications and Management

The majority of patients suffer from some degree of lifelong gastrointestinal complications regardless of operative repair type, requiring systematic evaluation. 7

Obstructive Symptoms

• Contrast studies: Identify anatomic abnormalities 1
• Endoscopic evaluation: Assess for stricture or retained aganglionic segment 1
• Anorectal manometry: Measure anal sphincter function and identify internal anal sphincter achalasia 1, 6

Internal Anal Sphincter Hypertonicity

• Botulinum toxin injections: First-line treatment for isolated primary anal achalasia or postoperative sphincter hypertonicity 6
• Anal myectomy: Alternative if botulinum toxin fails 6

Persistent Bowel Dysfunction

• Colonic motility studies: Identify distinct motility disorders amenable to individualized therapies 6
• Medical management: Address specific pathophysiological mechanisms identified 1
• Redo-operation: Rarely necessary for anatomic complications 1

Enterocolitis Management

• Clinical diagnosis: Based on fever, abdominal distension, diarrhea, and systemic symptoms 2
• Treatment guided by severity: Ranges from bowel rest and antibiotics to surgical decompression 2

Transition to Adult Care

Establish structured transition from pediatric to adult gastroenterology/colorectal surgery by late adolescence to ensure continuity of lifelong care. 7 Most patients report generally good quality of life despite ongoing gastrointestinal symptoms 7