Dual Challenges: A Case Report of Hirschsprung’s Disease and Anorectal Malformation in a Child
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Hirschsprung’s disease (HD) and anorectal malformations (ARMs) are rare congenital conditions with an incidence of approximately 1 per 5,000 live births. While each condition presents unique challenges, their simultaneous occurrence is rare, complicating diagnosis and surgical management. A 6-year-old female with ARM, previously managed by colostomy and anorectoplasty, continued to experience stool passage issues. Further evaluation of colonic biopsies confirmed the diagnosis of aganglionosis and HD. A modified Duhamel procedure was performed to remove the aganglionic segment and restore bowel function. The postoperative care was uneventful, and the patient was discharged with normal bowel function. This case illustrates the diagnostic complexity of HD in patients with ARM in whom symptom overlap and diagnostic delays are common. Comprehensive evaluation and customized surgical management are essential along with long-term follow-up to monitor complications and improve quality of life.
Abstract
Hirschsprung’s disease (HD) and anorectal malformations (ARMs) are rare congenital conditions with an incidence of approximately 1 per 5,000 live births. While each condition presents unique challenges, their simultaneous occurrence is rare, complicating diagnosis and surgical management. A 6-year-old female with ARM, previously managed by colostomy and anorectoplasty, continued to experience stool passage issues. Further evaluation of colonic biopsies confirmed the diagnosis of aganglionosis and HD. A modified Duhamel procedure was performed to remove the aganglionic segment and restore bowel function. The postoperative care was uneventful, and the patient was discharged with normal bowel function. This case illustrates the diagnostic complexity of HD in patients with ARM in whom symptom overlap and diagnostic delays are common. Comprehensive evaluation and customized surgical management are essential along with long-term follow-up to monitor complications and improve quality of life.