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Cecal volvulus in the Cornelia de Lange syndrome
K Husain1, P Fitzgerald, G Lau
1Division of Pediatric Surgery, Children's Hospital at Chedoke-McMaster, Hamilton, Ontario, Canada.
Journal of Pediatric Surgery
|September 1, 1994
Summary
Cornelia de Lange syndrome (CdLS) patients can experience life-threatening bowel obstruction due to cecal volvulus. Early recognition of this gastrointestinal complication is crucial for timely intervention and improved outcomes.
Area of Science:
- Medical Genetics
- Pediatric Surgery
- Gastroenterology
Background:
- Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with congenital malformations, including significant gastrointestinal anomalies.
- Intestinal obstruction is a recognized, potentially fatal complication in children with CdLS.
Observation:
- Two pediatric patients with CdLS presented with acute distal bowel obstruction.
- Emergency laparotomy revealed cecal volvulus with necrosis of the terminal ileum, cecum, and ascending colon in both cases.
- The underlying cause was identified as nonfixation of the colon, a known gastrointestinal anomaly in CdLS.
Findings:
- Surgical resection and end-ileostomy were performed for the acute obstruction and necrosis.
- Both patients successfully underwent reversal of the ileostomy, indicating successful management of the acute event.
- Nonfixation of the colon, predisposing to cecal volvulus, has been noted in prior autopsy studies of CdLS.
Implications:
- Parents of children with CdLS should be informed about the risk of bowel obstruction secondary to cecal volvulus.
- Increased awareness may facilitate earlier diagnosis and treatment of this severe gastrointestinal complication.
- Prompt identification and management of cecal volvulus can prevent mortality in CdLS patients.