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

Abstract

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.

• Authors: S O S Cortnum, P Sørensen, J Andresen
• Journal: Acta neurochirurgica (Acta Neurochir (Wien)) Vol. 150 Issue 7 Pg. 725-7 (Jul 2008) ISSN: 0942-0940 [Electronic] Austria
• PMID: 18548189 (Publication Type: Case Reports, Journal Article)

Topics

• Adult
• Arteriovenous Malformations (complications, diagnosis)
• Cerebral Angiography
• Humans
• Intracranial Arteriovenous Malformations (complications)
• Inuit
• Male
• Neurocutaneous Syndromes (complications, congenital, ethnology)
• Ophthalmic Artery
• Rare Diseases (complications, congenital, ethnology)
• Retinal Vessels
• Syndrome
• Tomography, X-Ray Computed
• Vision Disorders (etiology)