A Conjunctival Vascular Malformation as a Rare Presenting Sign of Wyburn-Mason Syndrome

Copyright © 2018 by Georg Thieme Verlag KG, Stuttgart New York. Wyburn-Mason syndrome is a rare condition that is characterized by ipsilateral arteriovenous malformations affecting the eye, brain, and facial skin. A conjunctival vascular dilation can be a rare ocular presenting sign. We report a 6-year-old boy who attended the hospital because of the sudden appearance of a conjunctival vascular lesion in his right eye. Inspection of his facial skin showed a subtle discoloration along the right trigeminal nerve and a vascular structure of the conjunctiva. Fundoscopy showed dilated and tortuous retinal vessels. Brain magnetic resonance imaging (MRI) revealed a large arteriovenous malformation involving the thalamus and perimesencephalic area. Ophthalmologic and neuroradiologic findings were consistent with the diagnosis of Wyburn-Mason syndrome. The sudden emergence of a vascular malformation in the conjunctiva should alert the clinician to perform an ophthalmoscopy, and in our patient, this finding was the clue to diagnosis of Wyburn-Mason syndrome. Because of the association between retinal and intracranial arteriovenous malformations, an MRI of the brain is strongly recommended in all patients with ocular arteriovenous malformations.

Jaar van publicatie:2018

Toegankelijkheid:Closed