A case of Wyburn-Mason syndrome

Abstract

A 10-yr-old boy noted gradual visual loss in the left eye and sought medical advice. His vision was 1.2 in the right eye and 0.4 in the left. Numerous dots of yellowish-white exudates and edema were seen in the macular area in the left eye. Also, retinal vessels showed marked dilatation and tortuosity with arteriovenous loop formations. Fluorescein angiography confirmed arteriovenous anastomoses and showed generalized dye leakage. The right eye was unaffected. Patches of simple angioma were present on the left forehead. Other physical, neurological and laboratory findings were within normal ranges. The case was diagnosed as exudative retinitis. The vision recovered to normal level after treatment with medication and xenon photocoagulation. The patient continued his normal life until sudden death set in two and a half years later due to subarachnoid haemorrhage by aneurysmal rupture of the anterior communicating artery. Retrospectively, the case is diagnosed as Wyburn-Mason syndrome. Ours is the first to be reported in Japan. We found only 34 reported cases and they are reviewed in the text. This syndrome is characterized, in its full form, by headache, ocular paresis, homonymous hemianopsia, multiple cutaneous naevi, hemiparesis and epilepsy besides vascular affections of the retina.