Primary Treatment for Hirschsprung Disease in Pediatric Patients
The primary treatment for Hirschsprung disease is surgical resection of the aganglionic bowel segment with pull-through of normally innervated intestine to the anal opening. 1
Understanding the Disease
Hirschsprung disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the distal bowel, resulting in functional obstruction. 1, 2 While this condition can rarely present in adulthood, it most commonly manifests during the neonatal period with delayed meconium passage or early signs of intestinal obstruction. 2, 3
The condition is mentioned as a rare congenital gastrointestinal malformation that may occur in children with 22q11.2 deletion syndrome, though it represents an uncommon finding even in this population. 4
Surgical Management: The Definitive Treatment
Surgery is the only definitive treatment and requires complete resection of the aganglionic segment followed by pull-through reconstruction. 1, 2
Modern Surgical Approaches
The surgical technique has evolved significantly:
- Transanal pull-through has become the preferred one-stage approach, avoiding the need for laparotomy and colostomy in many cases. 5
- Traditional three-stage approaches (colostomy, definitive pull-through at one year, then stoma closure) have largely been replaced by single-stage procedures. 5
- Transanal resection can be safely performed in patients with aganglionosis extending to the descending colon, with median bowel resection lengths of approximately 25 cm. 5
- Laparotomy or laparoscopy may still be required in approximately 30% of cases due to technical considerations, particularly with more extensive disease. 5
Critical Surgical Considerations
Accurate identification of the transition zone between aganglionic and normally innervated bowel is essential for surgical success. 1, 6 Intraoperative frozen section biopsies are typically performed to confirm the presence of ganglion cells at the proximal resection margin. 6
For extensive disease (total colonic aganglionosis with ileal extension), surgical management must be individualized based on the extent of aganglionosis, patient condition, and institutional expertise. 3 In these rare cases, temporary ileostomy may be necessary, particularly when dealing with long-standing constipation and massively dilated bowel. 3
Postoperative Management and Complications
Even after successful surgery, patients require long-term follow-up as postoperative symptoms are common. 1
Common Postoperative Problems
Patients may experience:
- Obstructive symptoms requiring systematic evaluation including examination under anesthesia, contrast studies, and endoscopy. 1
- Enterocolitis, which remains a significant concern even after surgical correction. 1
- Fecal incontinence necessitating assessment of anal sphincter function and colonic motility. 1
- Anastomotic stricture (occurring in approximately 15% of transanal cases). 5
- Severe constipation requiring ongoing medical management. 5
Systematic Postoperative Evaluation
When postoperative symptoms occur, evaluation should exclude:
- Anatomic abnormalities (stricture, retained aganglionic segment)
- Inflammatory processes
- Behavioral factors
- Motility disorders 1
Treatment approaches include medical management, botulinum toxin injection to the anal sphincter for obstructive symptoms, and rarely, redo-operation. 1
Critical Pitfalls to Avoid
- Do not delay surgical referral once Hirschsprung disease is diagnosed—medical management alone is insufficient. 1, 2
- Avoid missing the diagnosis in patients presenting with chronic severe constipation, as delayed diagnosis can lead to life-threatening complications including toxic megacolon, volvulus, or perforation. 2, 3
- Do not assume resolution after surgery—establish long-term follow-up protocols as postoperative complications are common and require systematic evaluation. 1