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

Cortnum, S O S; Sørensen, P; Andresen, J · Acta Neurochir (Wien) · 2008

case_report · Level V

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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.

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