부산대학교 도서관

Background: Shah Waardenburg Syndrome (SWS) is a rare variant of Waardenburg Syndrome (WS), which is characterized by aganglionosis, deafness, pigmentary anomalies of irides, skin and hairs. The purpose of this article was to analysis the extent of aganglionosis and its outcome in Shah Waardenburg syndrome. Methodology: Twelve consecutive patients of Shah -Waardenburg syndrome reviewed retrospectively with respect to age, sex, clinical presentations, family history and surgical outcome, selected from Liaquat University of Health Sciences and King Edward Hospital Lahore.. Results: This study comprised of twelve patients (8 males and 4 females). White forelock was seen in all patients. Nine patients had blue irides , three had blue and brown irides. None of them had white skin patches and facial deformity. Deafness could not be assessed in 8 new born patients while remaining four had no deafness. Clinical presentation in all patients was intestinal obstruction in 1st few days of life. Laparotomy revealed total colonic aganglionosis in eight new born patients while four patients had no proper diagnosis of leveling of lesion and had multiple surgeries and finally they fit in the diagnosis of total colonic aganglionosis. Histopathology showed total colonic aganglionosis in all patients. Eight expired due to severe sepsis/ enterocolitis, while two had endorectal pull through surgery and two patients are waiting for definitive surgery. Conclusion: Shah-Waardenburg Syndrome is a rare anomaly and highly associated with total colonic aganglionosis which leads to high morbidity and mortality in neonatal age group. [ABSTRACT FROM AUTHOR]