WOFAPS 2025 8th World Congress of Pediatric Surgery

Thozama Siyotula ¹, Francesca Maestri ¹, Martina Ichino ², Marion Arnold ¹

¹ Division of Pediatric surgery, University of Cape Town (UCT); Red Cross War Memorial Children’s hospital
² Department of pediatric surgery, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy

Introduction

Association between anorectal malformation and Hirschsprung disease (HD) is rare; anal stenosis (AS) has incidence <1%, with excellent functional prognosis when adequate anal caliber is ensured. We present a case of bowel obstruction in which AS with presacral mass initially hindered the HD diagnosis.

Case presentation

A 20-day-old male presented to emergency department with bowel obstruction. Born at term (weight 3365 g) with normal spontaneous emission of meconium, he subsequently had been passing minimal stools with failure to thrive and abdominal distension. He was admitted and underwent evaluation of perineum (EOP) diagnosing AS needing dilations (from 3 to 9mm Hegar) and laparotomy, noting homogeneous intestinal dilation without further mechanical obstructions. MRI demonstrated a presacral mass. A month later, patient again required EOP due to severe bowel obstruction, highlighting persistent AS requiring dilations up to 10mm and copious transanal irrigation. Laparotomy was performed again: transition zone at proximal sigmoid was detected, thus requiring colonic mapping and ileostomy. Histology showed HD in specimens distal to middle sigmoid. Reconstructive surgery for classical HD was performed with laparotomy, aganglionic tract mobilization, resection of presacral mass, coccygectomy; for perineal stage, an innovative technique was implemented by intussuscepting the aganglionic tract into the anus and performing extracorporeal Swenson dissection. Histology confirmed HD on resected sigmoid and ganglia on descending colon, diagnosing tailgut cyst for presacral mass. At 8 months, AS was addressed with Heinecke-Mikulicz strictureplasty obtaining 14mm calibre, which remained stable; stoma was then reversed. Subsequently, patient underwent intrasphincteric botulinum injection for mild obstructive symptoms. At outpatient clinic, patient demonstrated regular bowel actions and appropriate weight gain.

Conclusion

This case highlights the complexity of managing combined colorectal anomalies. We believe that a stepwise, individualized approach guided by detailed anatomical assessment is critical in planning and executing appropriate surgeries aiming at optimal long-term outcomes.