Barrett's esophagus and Cornelia de Lange Syndrome

Francesco MacChini, Giorgio Fava, Angelo Selicorni, Maurizio Torricelli, Ernesto Leva, Alberto Valadè

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)1407-1410
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Issue number9
Publication statusPublished - Sep 2010


  • Barrett's Esophagus
  • Cornelia de Lange Syndrome
  • Gastro-oesophageal reflux disease

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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