Barrett’s esophagus and Cornelia de Lange Syndrome

Aim: To review the records of Cornelia de Lange Syndrome (CDLS) children, affected by Gastro‐oesophageal reflux disease (GERD), to detect the presence of Barrett’s Esophagus (BE). Methods: A total of 62 CDLS patients were investigated for GERD (1 month–35 years). In all of them a pH‐metry, an upper endoscopy with multiple biopsies and a complete radiologic digestive evaluation were carried out. BE was diagnosed in case of replacement of oesophageal mucosa by specialized intestinal‐type columnar mucosa. Anti‐reflux surgery was considered in case of persistence of BE after medical therapy. Follow‐up (mean 3.5 years) consisted in endoscopy every 6 months . Results: Gastro‐oesophageal reflux disease was found in 50 CDLS patients (80%) and BE in six of them (12% of the GERD group, 9.6% of the entire population, mean age 17 years, range 6–32 years). A short segment BE was observed in three patients, a long one in two patients and an infiltrating adenocarcinoma of the lower oesophagus in one patient. Conclusions: A higher frequency of BE in CDLS patients than in a normal population is found. A delayed diagnosis because of atypical GERD symptoms and an altered intestinal motility as a result of neurological impairment can be recognized as the main cause.