Dados do Trabalho

Título

WYBURN-MASON SYNDROME: A RARE PHACOMATOSIS WITH MULTIPLE ARTERIOVENOUS MALFORMATIONS.

RESUMO

Presentation: An 18-year-old male patient, initially evaluated at the age of 2 for proptosis and visual impairment of the right eye. A red supraorbital skin lesion was perceived at that moment. There was no family history of neurological disorders and his parents were nonconsanguineous. Magnetic resonance imaging (MRI) revealed an arteriovenous malformation (AVM) involving the right cavernous sinus, which was treated with embolization. Despite the procedure, proptosis and edema of periorbital tissue continued to worsen and at the age of 12 he underwent a biopsy of frontal, infra-orbital and periorbital subcutaneous tissue which was compatible with a cavernous angioma. At the age of 18 he was evaluated at our institution. On neurologic examination there was marked proptosis with impairment on abduction, adduction and elevation as well as amaurosis of the right eye. Edema of periorbital, frontal and zygomatic regions on the right was also seen. Preserved strength and tone, but deep tendon reflexes were brisk, and Hoffman and Babinski signs were present. MRI revealed an expansive formation centered in the right orbit causing proptosis and compromising conal spaces with distortion of eye muscles and optic nerve. The lesion extended through the superior orbital fissure into the right cavernous sinus and to the contralateral orbit.
Discussion: Wyburn-Mason syndrome is a rare, non-hereditary congenital disease, belonging to the group of neurocutaneous syndromes, with fewer than 100 cases reported since its first description in 1937. It usually affects the orbit, retina and brain, with predominant involvement of the midbrain. Lesions may also affect the skin, maxilla, jaw, pharynx, oral and nasal cavities. Headache, seizures and hemiparesis are some other neurological manifestations of the syndrome. Despite an uncertain etiology, an embryonic defect is believed to result in the dissemination of vascular lesions originating from the cephalic mesoderm along the migratory route, before the actual migration of vascular cells to their destination.
Final Comments: Treatment of AVMs with endovascular techniques, surgery and radiosurgery are possibilities, but conservative treatment may be preferred due to the high risk of recurrence. However, bevacizumab, an anti-VEGF agent, has been shown to contain macular edema and improve visual loss in a short follow-up. Therefore, given the rarity of the pathology in question, the present report seeks to add to the literature.

Palavras Chave

Wyburn Mason , neurocutaneous syndromes , Phacomatosis , Arteriovenous malformations.