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CASE REPORTS
JOURNAL ARTICLE
Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement. Case report.
Journal of Neurosurgery 2001 August
Wyburn-Mason syndrome is a rare condition associated with multiple cerebral arteriovenous malformations. The disease, also called retinoencephalofacial angiomatosis, includes lesions of the retina, brain, and skin. This disorder stems from a vascular dysgenesis of the embryological anterior plexus early in the gestational period when the primitive vascular mesoderm is shared by the involved structures. The timing of the insult to the embryonic tissue determines which structures are affected. Extensions of the lesions vary widely but cutaneous lesions are unusual. Among reports in the literature, only three cases appear to have manifested without retinal involvement. The authors report the fourth case of Wyburn-Mason syndrome in which there was no retinal involvement and the first to involve neither the retina nor the face.
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