Skip segment Hirschsprung's disease in a patient with Shah-Waardenburg Syndrome

Abstract

Abstract Introduction We present a new case of Skip segment Hirschsprung's disease (SSHD) associated to Waardenburg's syndrome, in a patient with total colonic aganglionosis (TCA). Even though there are more than 30 cases reported in the literature, SSHD's existence is controversial, due to the fact that there is not clear embriological theory to explain this phenomenon. Case report 20 months-old male patient, that at four days-old had a temporary ileostomy because of an episode of intestinal obstruction. A microileum and right microcolon was observed at the moment of surgery. Biopsies of the ileum and microcolon confirmed the aganglionism. At four months-old definitive surgery was performed according to Boley's procedure. Hystopathological study of the surgical piece showed absence of ganglion cells in cecum and ascending colon (SSHD). The postoperatory has been favorable. A mutation in SOX10 gen was objectified in the molecular study, that confirmed the Shah Waardenburg syndrome. Discussion Most of cases of SSHD were observed in patients with TCA, as in our case. These patients usually need a temporary stoma before the definitive surgery. We think that the only way to discover SSHD cases is to make extended biopsies in left, transverse and right colon, and in ileum, while performing the ileostomy or in the definitve surgery. Conclusion SSHD must be included as a new phenotype in Hirschsprung spectrum. Preservation of these intestinal segments can improve intestinal function, specially in patients with TCA.