Bilateral Wyburn-Mason syndrome presenting as acute subarachnoid haemorrhage - a very rare congenital neurocutaneous [corrected] disorder.
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.
Department of Neurosurgery, University Hospital of Aalborg, Aalborg, Denmark. cortnumx@hotmail.com
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Cortnum
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Sørensen
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Andresen
D000328:Adult; D001165:Arteriovenous Malformations / Q000150:complications* / Q000175:diagnosis; D002533:Cerebral Angiography; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000150:complications; D004930:Inuit; D008297:Male; D020752:Neurocutaneous Syndromes / Q000150:complications* / Q000151:congenital* / Q000208:ethnology; D009880:Ophthalmic Artery; D035583:Rare Diseases / Q000150:complications / Q000151:congenital / Q000208:ethnology; D012171:Retinal Vessels; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014786:Vision Disorders / Q000209:etiology