Associated arteriovenous malformation of the orbit and brain: a case of Wyburn-Mason syndrome without retinal involvement - Case report

Wyburn-Mason syndrome is a rare condition associated with multiple cerebral arteriovenous malformations. The disease, also called retinoencephalofacia l angiomatosis, includes lesions of the retina, brain, and skin. This disor der stems from a vascular dysgenesis of the embryological anterior plexus e arly in the gestational period when the primitive vascular mesoderm is shar ed by the involved structures. The timing of the insult to the embryonic ti ssue determines which structures are affected. Extensions of the lesions va ry widely but cutaneous lesions are unusual. Among reports in the literatur e, 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.