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Hirschsprung's disease, imperforate anus, and Down's syndrome: a case report
H Flageole1, A Fecteau, J M Laberge
1Department of Pediatric General Surgery, Montreal Children's Hospital/McGill University, Quebec, Canada.
Insights
Infants with trisomy 21 and imperforate anus may develop Hirschsprung's disease. Early suspicion and surgical management, including endorectal pull-through, are crucial for successful outcomes.
Area of Science:
- Pediatric Surgery
- Medical Genetics
- Gastroenterology
Background:
- Trisomy 21 (Down syndrome) is associated with increased gastrointestinal anomalies.
- The simultaneous occurrence of imperforate anus, Hirschsprung's disease, and trisomy 21 is exceptionally rare and previously unreported.
- Gastrointestinal issues in trisomy 21 patients necessitate careful monitoring and diagnosis.
Abstract:
Patients with trisomy 21 have a higher incidence of several gastrointestinal anomalies. However, the coexistence of imperforate anus, Hirschsprung's disease, and trisomy 21 had not been reported previously. This report describes the case of an infant girl born with trisomy 21 and imperforate anus, without a fistula, who presented with bowel obstruction 3 months after anoplasty. The obstruction was attributable to Hirschsprung's disease. This was managed by a leveling colostomy in the descending colon, followed by an endorectal pull-through after 4 weeks. She has a normal stooling pattern 11 months after colostomy closure. Hirschsprung's disease should be suspected in infants with trisomy 21 who have constipation after repair of imperforate anus. The authors believe that the endorectal pull-through is the safest technique to use for Hirschsprung's disease after a previous anoplasty.