Peptic stricture of the esophagus in a patient with Cornelia de Lange syndrome, a typical complication

We report of a 20 year old female patient with Cornelia de Lange syndrome (CdLS) who presented with regurgitation of increasing amounts of food over a 3 week period. She has tolerated only liquid and soft foods since birth. Her parents had not oberserved any signs of discomfort or pain beforehand.

The barium swallow showed evidence of a long stricture in the lower third of the esophagus with prestenotic dilatation. The following endoscopic procedure showed an esophagitis and a stenosis which could not be passed by the endoscope. After initial treatment with a proton pump inhibitor (omeprazol) for 3 weeks we performed an endoscopic controlled balloon dilatation. With continuation of the medication with proton pump inhibitors the patient showed no further complications, the nutrition with the usual pureed food could be continued.

At the age of 1.5 years the patient had been diagnosed endoscopically with gastroesophageal reflux disease (GERD) and was treated successfully with antacids. Since the patient was asymptomatic from that point on until recently, the medication was discontinued by the parents and she was lost to follow-up.

Due to a malcoordinated swallowing act and dysmotility of the esophagus children with CdLS suffer frequently from GERD. These patients often show little clinical signs of gastroesophageal reflux.

We found several reports of complicated clinical courses. We therefore recommend in symptomatic and asymptomatic children with CdLS either esophageal pH-monitoring/impedance or endoscopy in regular intervals.