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Gastroesophageal dysfunction in Cornelia de Lange syndrome
M Cates1, D F Billmire, M J Bull
1Department of Surgery, Indiana University School of Medicine, Indianapolis.
Journal of Pediatric Surgery
|March 1, 1989
Summary
Children with Cornelia de Lange syndrome often experience feeding issues and severe gastroesophageal reflux (GER). Surgical intervention, including Nissen fundoplication and feeding gastrostomy, effectively managed these severe GER cases in CDL patients.
Area of Science:
- Pediatric Gastroenterology
- Genetics and Rare Diseases
Background:
- Cornelia de Lange syndrome (CDL) is a genetic disorder associated with significant feeding difficulties.
- Abnormalities in swallowing, esophageal motility, and gastroesophageal reflux (GER) are common in CDL patients.
Observation:
- Four children with CDL syndrome presented with severe GER.
- These esophageal dysfunctions contribute to failure to thrive and aspiration pneumonia.
Findings:
- Three of the four patients with severe GER underwent successful management with Nissen fundoplication and a feeding gastrostomy.
- This highlights the efficacy of surgical intervention for severe GER in CDL syndrome.
Implications:
- Early recognition and management of esophageal dysfunction are crucial for CDL patients.
- Antireflux procedures and feeding gastrostomy should be considered in the clinical management of CDL syndrome to improve outcomes.