Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder

• Published in: Acta Neurochirurgica
• Main Authors: Cortnum, S O S, Sørensen, P, Andresen, J
• Format: Article in Journal/Newspaper
• Language: English
• Published: 2008
• Subjects: Adult; Arteriovenous Malformations/complications; Cerebral Angiography; Humans; Intracranial Arteriovenous Malformations/complications; Inuits; Male; Neurocutaneous Syndromes/complications; Ophthalmic Artery; Rare Diseases/complications; Retinal Vessels; Syndrome; Tomography; X-Ray Computed; Vision Disorders/etiology; inuits
• Online Access: https://pure.au.dk/portal/da/publications/bilateral-wyburnmason-syndrome-presenting-as-acute-subarachnoid-haemorrhage--a-very-rare-congenital-neurocutaneous-corrected-disorder(a16bfae3-1e30-45eb-8105-91ea2e30be37).html; https://doi.org/10.1007/s00701-008-1604-z

A 30 year old young male was admitted to our department after experiencing clinical symptoms of a subarachnoid haemorrhage. Imaging studies revealed large cerebral AVMs. Fundus examination of the left eye demonstrated a retinal racemose AVM almost completely covering the posterior pole of the eye. Wyburn-Mason syndrome is a very rare congenital neurocutaneous disorder comprising of vascular malformations of the retina, ipsilateral cerebral AVMs and occasionally lesions in the oronasopharyngeal area. Subarachnoid haemorrhage associated with Wyburn-Mason syndrome has been described in only 5 patients in the literature since 1973. The finding of retinal AVMs should warrant cerebral imaging studies including CT- or MR-angiography.