Wyburn-Mason Syndrome (Bonnet-Dechaume-Blanc Syndrome)

Wyburn-Mason syndrome (WMS) or Bonnet-Dechaume-Blanc syndrome is a rare nonhereditary congenital disorder without gender predilection that typically presents with unilateral arteriovenous malformations (AVM) involving facial structures, orbit, retina, and (mid) brain. Additional vascular alterations may be encountered elsewhere in the body. Symptomatic AVM of the retina are usually diagnosed in early life. In 1943, Wyburn-Mason defined the alterations of the eye, brain, and face as a separate entity in a group of nine patients. The exact cause of the syndrome is unknown. Hitherto, less than 150 cases have been reported in the literature. This chapter describes the diagnosis, clinical features, and management options of the disease.