Indian pediatrics · 2014
Waardenburg syndrome presenting with constipation since birth.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Gupta R, Sharma S B, Mathur P, Agrawal L D
Аннотация
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.
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.