Wyburn–Mason Syndrome Variant Treated with Stereotactic Radiosurgery


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Abstract

Classical Wyburn–Mason syndrome consists of unilateral arteriovenous malformations affecting the retina, midbrain, and visual pathways in the brain, and the facial structures. An unusual case of Wyburn–Mason syndrome with bilateral manifestations and without retinal involvement is described. A 19-year-old girl presented at the age of 5 with a left hemiparesis and aphasia following intracerebral hemorrhage in the right internal capsule and basal ganglia. Angiography demonstrated left sylvian, right frontoparietal, and right thalamic arteriovenous malformations (AVMs). In addition to multiple intracranial AVMs, she had multiple telangiectatic lesions scattered over her body. Ophthalmological examination was normal except for left orbital bruit. Two years later, with moderate clinical improvement, she had proton beam radiosurgery for her multiple AVMs. Due to lack of beneficial effect, repeat radiosurgery with more appropriate dose is under consideration. A review of the literature revealed that our presenting case represents one of the few reported cases of atypical Wyburn–Mason syndrome with bilateral manifestations and without retinal involvement. To our knowledge, ours represent the first reported case for which radiosurgery had been offered as a treatment modality.

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