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.