Cornelia de Lange syndrome is a congenital malformation characterized
by severe growth failure, mental retardation, and multiple physical an
omalies. A variety of gastrointestinal anomalies have been described,
including malrotation, colonic duplication, and nonfixation of the col
on. Two patients with Cornelia de Lange syndrome presented to our inst
itution with acute distal bowel obstruction. In both cases, emergency
laparotomy showed cecal volvulus with necrosis of the terminal ileum,
cecum, and ascending colon, secondary to nonfixation of the colon. Res
ection and an end-ileostomy were performed and later successfully reve
rsed in both patients. Intestinal obstruction is a known cause of deat
h in these children, and nonfixation of the colon has been identified
during autopsy. Parents of children with Cornelia de Lange syndrome sh
ould be counseled as to the possibility bf bowel obstruction resulting
from cecal volvulus. This awareness may lead to earlier identificatio
n and treatment of this potentially lethal gastrointestinal tract anom
aly. Copyright (C) 1994 by W.B. Saunders Company