Cornelia de Lange syndrome – characteristics and laparoscopic treatment modalities of reflux based on own material

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 the phenotype 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 in CdLS patients were performed solely via laparotomy. The contemporary gold standard is a procedure performed laparoscopically. There are a few case reports of patients with CdLS operated on for GERD with laparoscopy available in the literature. The goal of this paper is to present two cases of Cornelia de Lange syndrome treated with laparoscopic antireflux procedures. We have performed two such procedures in 14 and 16 year-old girls with typical symptoms of the syndrome, i.e. developmental and mental retardation, hirsutism, structural limb anomalies and abnormal face development. The main indications for surgery in both cases were ineffective medical treatment and persistent aspiration pneumonia and its complications as a result of the gastroesophageal reflux. Oesophageal hiatus hernia and 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 the night and did not need hospitalization for aspiration pneumonia. Neither of them required proton pump inhibitors. It should be concluded that laparoscopic Nissen fundoplication is a safe and effective method of GERD treatment in children with CdLS.