Bowel perforation in neonates with Hirschsprung disease: a case series and literature review.

Background: Bowel perforation is a severe complication of Hirschsprung disease (HD) that necessitates prompt diagnosis and aggressive management to reduce mortality and morbidity. This study aimed to provide insights into the clinical management of neonatal HD cases complicated by bowel perforation.

Methods: A retrospective review was conducted on neonates diagnosed with HD and bowel perforation at Beijing Children's Hospital from January 2007 to January 2024. Inclusion criteria included neonates ≤ 28 days old with confirmed HD diagnosis based on postoperative histology. Data collected included perinatal history, patient characteristics, HD classification, clinical presentations, surgical interventions, and outcomes. Statistical analysis was performed using SPSS 26.0.

Results: Among 300 neonates diagnosed with HD, 18 (6.0%) developed preoperative bowel perforation. Most perforations were in the proximal ganglionic bowel, with short-segment HD (7/18, 38.9%) and long-segment HD (9/18, 50.0%) being most common. All patients received timely surgical intervention upon the discovery of bowel perforation, with 94.4% (17/18) requiring stoma creation. Postoperative complications included stoma retraction, Hirschsprung disease-associated enterocolitis, and adhesive bowel obstruction, but no mortality was reported.

Conclusion: The incidence of preoperative bowel perforation in neonates with HD was 6.0%, primarily in cases of short-segment and long-segment HD. Perforations were mainly located in the proximal ganglionic segments. Prompt surgical intervention, particularly stoma creation, resulted in favorable outcomes for most patients.