• P N Dayani and A A Sadun.
• Department of Ophthalmology and Visual Sciences, Washington University, School of Medicine, 660 South Euclid Avenue, Campus Box 8096, St. Louis, MO, 63110, USA. dayani@vision.wustl.edu
• Neuroradiology. 2007 May 1; 49 (5): 445-56.

IntroductionWyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi.MethodsWe report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n = 26) in the English literature since 1973.ResultsIn this review, we report on a 4(1/2)-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome.ConclusionThe presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.

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