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.
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 CDLSpatients 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 CDLSpatients (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 CDLSpatients 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: Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam Journal: Nat Rev Genet Date: 2018-10 Impact factor: 53.242