title: Barrett's esophagus and Cornelia de Lange Syndrome.
abstract: OBJECTIVE
  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.
authors.affiliation: Pediatric Surgery Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. francesco.macchini@unimi.it
authors.forename: Francesco
authors.initials: F
authors.lastname: Macchini
authors.forename: Giorgio
authors.initials: G
authors.lastname: Fava
authors.forename: Angelo
authors.initials: A
authors.lastname: Selicorni
authors.forename: Maurizio
authors.initials: M
authors.lastname: Torricelli
authors.forename: Ernesto
authors.initials: E
authors.lastname: Leva
authors.forename: Alberto
authors.initials: A
authors.lastname: Valadè
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001471:Barrett Esophagus / Q000453:epidemiology* / Q000473:pathology / Q000517:prevention & control; D002648:Child; D002675:Child, Preschool; D003635:De Lange Syndrome / Q000453:epidemiology*; D057210:Delayed Diagnosis; D004724:Endoscopy; D005260:Female; D005500:Follow-Up Studies; D005764:Gastroesophageal Reflux / Q000453:epidemiology; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D008297:Male