Data di Pubblicazione:
2010
Citazione:
Barrett's esophagus and Cornelia de Lange Syndrome / F. Macchini, G. Fava, A. Selicorni, M. Torricelli, E. Leva, A. Valade. - In: ACTA PAEDIATRICA. - ISSN 0803-5253. - 99:9(2010 Sep), pp. 1407-1410. [10.1111/j.1651-2227.2010.01834.x]
Abstract:
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. © 2010 Foundation Acta Pædiatrica.
Tipologia IRIS:
01 - Articolo su periodico
Keywords:
Barrett's Esophagus; Cornelia de Lange Syndrome; Gastro-oesophageal reflux disease;
Elenco autori:
F. Macchini, G. Fava, A. Selicorni, M. Torricelli, E. Leva, A. Valade
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