Barrett's esophagus and Cornelia de Lange Syndrome

Acta Paediatr. 2010 Sep;99(9):1407-10. doi: 10.1111/j.1651-2227.2010.01834.x.


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.

MeSH terms

  • Adolescent
  • Adult
  • Age of Onset
  • Barrett Esophagus / epidemiology*
  • Barrett Esophagus / pathology
  • Barrett Esophagus / prevention & control
  • Child
  • Child, Preschool
  • De Lange Syndrome / epidemiology*
  • Delayed Diagnosis
  • Endoscopy
  • Female
  • Follow-Up Studies
  • Gastroesophageal Reflux / epidemiology
  • Humans
  • Infant
  • Italy / epidemiology
  • Male