Epidemiology, diagnostics and management of vein of Galen malformation

Abstract Background Vein of Galen malformation (VGM) is a rare congenital intracerebral vascular malformation. The intention of this study was to gain reliable data about epidemiology, clinical manifestations and pre-, peri- and post-interventional treatment strategies in Germany. Methods This prospective epidemiological study was conducted by ESPED (Erhebungseinheit fur Seltene Padiatrische Erkrankungen in Deutschland), a hospital-based German nation-wide surveillance unit for rare pediatric diseases. Patients up to the age of 18 years with a new diagnosis of vein of Galen malformation (VGM) were prospectively included between January 1, 2014 to December 31, 2015. Results In the 2-year study period, 30 cases of newly diagnosed VGM were reported resulting in an estimated annual incidence rate of VGM in Germany of at least 1: 58100 live births. The main symptoms were age dependent. Neonates presented with mainly cardiac manifestations of high output failure, infants and older children mainly suffered from neurologic complications. Ninety-five % of all patients with endovascular treatment survived, but only 41% of these patients were discharged home without any complications. The Bicetre Neonatal Evaluation Score (BNES) was a good predictor for poor outcome but could have led to palliative care in some patients with good outcome. Conclusions The incidence of VGM in Germany is estimated to be 1:58100 live births. The majority of patients was eligible for endovascular treatment. Nevertheless, due to side effects and long-term sequelae in the majority of patients further improvement in care of children with VGM is required.