Hirschsprung's disease in an adult patient with familial occurrence: report of a case.

Abstract

Hirschsprung's disease is almost always associated with newborns or infants; however, we report herein the unusual case of a 46-year-old woman in whom the symptoms of Hirschsprung's disease emerged late in adult life. The involved rectosigmoid region was successfully removed by performing Duhamel's operation with a diverting colostomy. After the colostomy was closed, she regained normal defecatory function. She had one male child affected by Hirschsprung's disease of the total colon type who was operated on as a 12-month-old baby. The genetic predisposition of Hirschsprung's disease has been reported, but its mode of inheritance has not yet been clarified. Moreover, most papers on the familial occurrence of this disease have reported that siblings were affected. Our patient was unique for the definite occurrence of the disease in successive generations. The features of Hirschsprung's disease in adults and the familial occurrence are discussed with a review of the literature.