Waardenburg Syndrome Presenting With Constipation Since Birth.

Background: Shah-Waardenburg syndrome is Waardenburg syndrome associated with Hirschsprung’s disease. Case characteristics: A 10-day-old full-term male neonate of Waardenburg syndrome presented with constipation since birth along with features of small bowel obstruction. Observation: Exploratory laparotomy revealed distended proximal jejunal and ileal loops along with microcolon; an ileostomy was performed. Outcome: Postoperatively patient developed sepsis and died. Histopathology confirmed total colonic aganglionosis. Message: Suspect familial Shah-Waardenburg syndrome in a neonate of Waardenburg syndrome presenting with constipation since birth or intestinal obstruction.