Epidemiology, Diagnostics, and Management of Vein of Galen Malformation

Background: Vein of Galen malformation (VGM) is a rare congenital intracerebral vascular malformation. The aim of this study was to gain reliable data about epidemiology; clinical manifestations; and pre-, peri- and postinterventional treatment strategies in Germany.

Methods: This prospective epidemiologic study was conducted by Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland, a hospital-based German nationwide surveillance unit for rare pediatric diseases. Patients aged upto 18 years with a new diagnosis of VGM were prospectively included between January 1, 2014 and December 31, 2015.

Results: In the two-year study period, 30 individuals with newly diagnosed VGM were identified, resulting in an estimated annual incidence rate of VGM in Germany of at least 1: 58,100 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 neurological complications. Of the patients with endovascular treatment 95% survived, but only 41% of these patients were discharged home without any complications. The Bicêtre Neonatal Evaluation Score 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 1:58,100 live births. The majority of patients were 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 needed.