Long segment Hirschsprung's disease in the Waardenburg-Shah syndrome

Abstract

Presentation with signs of bowel obstruction in an infant with Waardenburg syndrome should raise the suspicion of aganglionosis. We report such a case of long segment Hirschsprung's disease associated with Waardenburg syndrome. Long term care of such children is fraught with high morbidity and mortality.

Waardenburg syndrome with extended aganglionosis: report of 3 new cases

“…One characteristic is the length of the aganglionic segment. Total colonic (ileocecal) aganglionosis and long segment (up to the splenic flexure) aganglionosis have been observed in 60.4% and 14%, respectively, where the location of caliber change was described, whereas rectosigmoid aganglionosis has been reported at a rate of 23.2% and ultrashort aganglionosis at 2.3% [4,[10][11][12][13][14][15][16]. All of our cases had EA.…”

“…The clinical diagnosis of WS requires at least 2 major or one major and one minor criteria (Table 2) [7,15]. The diagnosis of HD in type IV WS patients is made using the history, physical examination, plain abdominal x-ray, …”

“…Most of the previous series used various procedures after the initial enterostomy such as the Soave endorectal pull-through for short segments, the modified extended Duhamel method for long segments, the Swenson pull-through, and the Kimura-Stringel operation [7,15]. The 12 patients reported by Shah died a short time after birth, and total intestinal involvement was reported as the cause of death, whereas the patients defined by McKusick and Omenn [6] had shorter HH segments and were treated with standard treatment methods [3,5].…”

Association of Shah-Waardenburgh syndrome: a review of 6 cases

“…1 Associations of SWS. [3]. Identification of these signs at birth may help in predicting the course of the disease, planning stoma, and biopsies during surgery [4].…”

“…The identification of the syndrome has important implications in the proper management of these patients. In patients with SWS, the aganglionic segment may be long and may have total colonic or total intestinal aganglionosis [2,3]. They also have high incidence of enterocolitis and malnutrition [4].…”