Waardenburg syndrome presenting with constipation since birth

Indian Pediatr. 2014 Dec;51(12):1013-4. doi: 10.1007/s13312-014-0549-y.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Colon / abnormalities*
  • Colon / pathology
  • Constipation / diagnosis*
  • Constipation / pathology
  • Fatal Outcome
  • Hirschsprung Disease
  • Humans
  • Infant, Newborn
  • Intestinal Obstruction / diagnosis*
  • Intestinal Obstruction / pathology
  • Male
  • Waardenburg Syndrome / diagnosis*
  • Waardenburg Syndrome / pathology

Supplementary concepts

  • Microcolon
  • Waardenburg syndrome, type 4