FAMILIAL HIRSCHSPRUNGS-DISEASE - 20 CASES IN 12 KINDREDS

This report describes 20 infants and children with a family history of Hirschsprung's disease in 12 kindreds. A total of 260 patients were treated for Hirschsprung's disease (1972 to 1991), yielding a familial incidence of 8%. There were no families with consanguineous marriage. Sixteen patients were male and four were female. The mean age at diagnosis was 18 days. Clinical presentation included delayed passage of meconium in 15, abdominal distention in 11, vomiting in 9, feeding abnormalities in 3, and complete bowel obstruction in 1. Associated congenital anomalies occurred in 25% of the patients. The extent of aganglionosis was rectal in 4, sigmoid in 4, left colon in 2, transverse or right colon in 2, and total colonic in 8. Enterocolitis occurred in 7 patients (35%); 2 at diagnosis, 2 after an ostomy, and 3 after a pull-through procedure. There were no deaths associated with enterocolitis. All patients had a proximal diverting colostomy or ileostomy, and 19 of 20 underwent a definitive pull-through procedure. Three patients were lost to follow-up and one patient died of complications of multiple congenital anomalies unassociated with Hirschsprung's disease. Of the remaining 16 patients, all of whom have undergone a pull-through procedure, 11 are fully continent, 2 have nighttime soiling, 2 are too young to evaluate bowel function, and 1 still has an ostomy. The mode of inheritance for Hirschsprung's disease is complex and requires further clarification; however, nontraditional genetic concepts such as mosaicism, uniparental disomy, and genetic imprinting may explain a variety of conditions and unusual patterns of inheritance not previously understood in the Hirschsprung's disease process. Family counseling and physician awareness in affected kindreds is essential. © 1993 W.B. Saunders Company. All rights reserved.