Hirschsprungs Disease in An Adult Male - An Unusual Presentation

Bhabani Sankar Sahoo, Rajat Karma, Shipra Singhal, Arun Chhetri

Abstract: Hirschsprungs Disease (HD) is a rare congenital disease where aganglionosis of the submucosal & myenteric neural plexuses principally affects the rectosigmoid or rectal segments of varying length. The vast majority of cases of HD are recognized in newborns or infants but a few cases with a milder form elude surgery until adolescence or adulthood. HD in adult is a rare & misdiagnosed cause of long-standing refractory constipation. We report a case of HD in a 32 year old man who presented to the emergency department with absolute constipation, severe abdominal distension & features consistent with large bowel obstruction. Operative findings were suggestive of HD, recto-colonic resection & diversion colostomy was done and diagnosis was confirmed as colonic aganglionosis on biopsy. The diagnosis of HD in adult is difficult due to the rarity of the disease & the incidence of short & ultra short disease with mild symptoms. The patients with long standing history of undiagnosed constipation since infancy & childhood could be suffering from HD. HD should be suspected in adults with a chronic history of constipation. Whenever reasonable doubt is present, biopsies should be taken.

Keywords: Hirschsprungs disease, chronic constipation, aganglionosis, adult, Duhamel procedure, negative calretinin staining