FAMILIAL HIRSCHSPRUNGS-DISEASE - A REPORT OF 22 AFFECTED SIBLINGS IN 4 FAMILIES

Twenty-two infants, belonging to four families from Gaza, presenting with typical features of Hirschsprung's disease are reported. Eight patients died at home shortly after birth, prior to 1974, due to low intestinal obstruction. Fourteen patients were referred to Hadassah University Hospital after 1974 and diagnosed, by rectal biopsy, as having Hirschsprung's disease. Thirteen underwent laparotomy and multiple intestinal biopsies. Ten had total intestinal aganglionosis, two had total or near total aganglionosis, and in only one patient was the common rectosigmoid aganglionosis found. One patient died prior to surgery. This unusual familial disease, involving very long aganglionic segments, raises the possibility that these infants suffered from a unique variant of Hirschsprung's disease. © 1990.