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  • Title: The influence of trisomy 21 on outcome in children with Hirschsprung's disease.
    Author: Quinn FM, Surana R, Puri P.
    Journal: J Pediatr Surg; 1994 Jun; 29(6):781-3. PubMed ID: 8078020.
    Abstract:
    The association of Hirschsprung's disease (HD) and trisomy 21 has been well recognised. Seventeen (13%) of 135 patients presenting with HD between 1975 and 1992 had trisomy 21. Nine (53%) presented in the neonatal period, with intestinal obstruction (5), enterocolitis (2), or perforation of the colon (2). Eight patients presented after the neonatal period, with constipation. Pathological involvement included rectosigmoid (12), long segment (4), and total colonic aganglionosis (1). Definitive surgery was performed in 14 patients. At the mean follow-up of 8 years (4 to 15 years), only one of the 13 patients has normal bowel function. Eight have persistent soiling, and two have reverted to permanent stomata. There were two deaths in the series; one resulted from enterocolitis complicating HD, and the other from congenital cardiac disease. These data suggest that long-term bowel function in children with HD and trisomy 21 is poor and should be taken into consideration when planning the management.
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