Barrett's esophagus and Cornelia de Lange Syndrome.
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.
Macchini
Francesco
F
Pediatric Surgery Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. francesco.macchini@unimi.it
Fava
Giorgio
G
Selicorni
Angelo
A
Torricelli
Maurizio
M
Leva
Ernesto
E
Valadè
Alberto
A
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