Wyburn-Mason Syndrome – A Rare Preventable Cause of CV Stroke in Young.

Abstract

Introduction : Wyburn-Mason syndrome is a rare condition considered as one of the nonhereditory congenital phacomatosis,characterised by arterio-venous malformations that affects retina,visualpathway,mid-brain and facial structures with no age and sex predilection.To the date ,fewer than 100 cases have been reported in the literature1.so herein we are reporting a case of Wyburn-Mason syndrome. Case report : A 22 years male ,presented with acute onset of weakness in right upper and lower limb since 3 days,associated with right eye ptosis and deviation of angle of mouth to left.It was preceded by an episode of vomitting and generalised tonic clonic seizure .CT Brain revealed fresh haemorrhage in left Basal ganglia and CT Angiography Brain revealed A-V malformation on left side.Fundus examination revealed venous dilatation with tortousity of vessels in left eye.Patient also had congenital port wine coloured skin lesion over right side of face not crossing midline.So in view of AVM involving brain,retina and facial structures, it was diagnosed as Wyburn-Mason syndrome.presenting as intracranial haemorrhage in young patient. Conclusion : The presentation of patients with Wyburn-Mason syndrome can vary greatly according to site and extent of vascular lesions without age and sex predilection.The natural course of intracranial AVM's is poorly documented.However ,they tend to be extensive and inaccessible.so early diagnosis is important preventive strategy