Wyburn-Mason Syndrome

Abstract

AbstractWyburn–Mason syndrome is a very rare neurocutaneous disorder characterized by unilateral arteriovenous malformations of the midbrain associated with vascular abnormalities of eye and optic pathways, as well as multiple cutaneous nevi, reddish-bluish in color. The co-occurrence of such anomalies can be explained by an embryonic anomaly occurring in common ancestor cells, with the more severe cases related to development errors in the very early phases of gestation. Central nervous system and vision may be severely impaired: affected individuals may present with acute headache, hemiplegia, and homonymous hemianopsia in half of the cases. Seizures, cerebellar dysfunction, acute psychiatric signs, hallucinations, and temporal/spatial disorientation are reported more rarely. A progressive mental illness can become evident later in up to 30% of cases. Surgical removal is indicated only in superficially located arteriovenous malformations, while nonsurgical strategies (i.e., embolization and radiation therapy) are indicated for most of the lesions and represent the gold standard option in the treatment of this syndrome.