%0 Journal Article
%T Cornelia de Lange syndrome ¨C characteristics and laparoscopic treatment modalities of reflux based on own material
%A Robert Szyca
%A Krzysztof Leksowski
%J Videosurgery and Other Miniinvasive Techniques
%D 2011
%I Termedia Publishing House
%X Cornelia de Lange syndrome (typus degenerativus amstelodamensis, CdLS, Brachmann syndrome) is a complex, congenital,multi-gene anomaly characterized by mental retardation. Its features include growth inhibition, hirsutism,structural anomalies of the limbs and abnormal development of osseous structures of the face. Independent of thephenotype of the disease, 85% of patients are assumed to have symptoms of gastroesophageal reflux disease(GERD). Aspiration pneumonia is one of the complications of GERD and a main cause of death in these patients.Patients not responding to medical treatment qualify for surgery. Until recently, anti-reflux procedures for GERD inCdLS patients were performed solely via laparotomy. The contemporary gold standard is a procedure performedlaparoscopically. There are a few case reports of patients with CdLS operated on for GERD with laparoscopy availablein the literature. The goal of this paper is to present two cases of Cornelia de Lange syndrome treated with laparoscopicantireflux procedures. We have performed two such procedures in 14 and 16 year-old girls with typical symptomsof the syndrome, i.e. developmental and mental retardation, hirsutism, structural limb anomalies and abnormalface development. The main indications for surgery in both cases were ineffective medical treatment and persistentaspiration pneumonia and its complications as a result of the gastroesophageal reflux. Oesophageal hiatus herniaand reflux were confirmed with accessory tests in both cases. During 36 months of follow-up, according to Barents,no episode of oesophageal reflux with acidic gastric content was noted. The treated children slept well during thenight and did not need hospitalization for aspiration pneumonia. Neither of them required proton pump inhibitors. Itshould be concluded that laparoscopic Nissen fundoplication is a safe and effective method of GERD treatment in childrenwith CdLS.
%K Cornelia de Lange syndrome
%K gastroesophageal reflux disease
%K laparoscopic procedures
%U http://www.termedia.pl/Case-report-Cornelia-de-Lange-syndrome-characteristics-and-laparoscopic-treatment-modalities-of-reflux-based-on-own-material,42,17374,1,0.html