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Annual Meeting of the North American Society for Pediatric Gastroenterology and Nutrition; Toronto, October 30 - November 2, 1997



Akhtar, M. I.*; Gunasekaran, T. S.*; Berman, J. H.*; Sileikiene, D.*; Montes, R.; Duncan, R. C.; Kraut, J. R.*

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Journal of Pediatric Gastroenterology & Nutrition: October 1997 - Volume 25 - Issue 4 - p 473
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Cornelia de Lange Syndrome (CdLS) is a rare disorder characterized by multiple congenital anomalies, mental retardation, and severe growth failure. CdLS patients have a higher incidence of gastroesophageal reflux and its complications, including Barrett's Esophagus (BE). We report three patients with CdLS and Barrett's Esophagus.

METHOD: Three patients with CdLS, mean age 14 years (8-19), mean weight 23kg (17-35) were evaluated for the following symptoms: dysphagia (3), fatigue (1), coughing and drooling with eating (1). Hemoglobin was 7.4-13gm/dl (mean 10.8). Previous surgeries included Nissen fundoplication with gastrostomy (2). All three patients had barium upper GI series and upper GI endoscopy with esophageal biopsies.

RESULTS: Barium UGI series showed esophageal stricture (2), hiatal hernia (1), poor esophageal motility (1), and a fluid filled paraesophageal pouch communicating with the esophagus (1). Upper GI endoscopy findings included: esophageal strictures (2), hiatal hernia (1), erythema or erosions of the distal esophagus (2), post fundoplication changes (2), and diverticulum in midesophagus (1). Esophageal biopsies demonstrated esophagitis and BE (intestinal metaplasia as seen on special stains) in all three patients.

CONCLUSION: Patients with CdLS may be at risk of BE. Patients with CdLS should have endoscopic evaluation with biopsies for Barrett's Esophagus prior to fundoplication. Further prospective studies are needed to evaluate the true incidence of BE in patients with CdLS.

Section Description


H. pylori/Celiac Disease/Gastrointestinal Immunology

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