Extended long-segment Hirschsprungs’ disease in the Waardenburg–Shah syndrome

Abstract

Hypopigmentation, either a white forelock or changes in the eyebrows and/or isochromia irides, associated with signs of bowel obstruction should alert the paediatrician and paediatric surgeons to the possibility of aganglionosis. We report a case of Waardenburg–Shah syndrome, which is a very rare congenital disorder with variable clinical expression, characterized by Hirschsprungs’ disease and abnormal melanocyte migration, resulting in pigmentary abnormalities and sensorineural deafness. Our patient had an exceptional association of extended long-segment aganglionosis and underwent a proximal ileostomy but did not survive until a definitive procedure was performed. Long-term prognosis of such children is associated with high morbidity and mortality. 

Keywords: extended long-segment Hirschsprungs’ disease, Waardenburg–Shah Syndrome, white forelock