Waardenburg syndrome presenting with constipation since birth.

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.

• Authors: R Gupta, S B Sharma, P Mathur, L D Agrawal
• Journal: Indian pediatrics (Indian Pediatr) Vol. 51 Issue 12 Pg. 1013-4 (Dec 2014) ISSN: 0974-7559 [Electronic] India
• PMID: 25560164 (Publication Type: Case Reports, Journal Article)

Topics

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