Bilateral Internal Carotid Artery Occlusion Due To Homocystinuria:  Case Report

Derya Yavuz Demiray; Sait Albayram; Cengiz Yalçınkaya; Zehra Haşıloğlu

Derya Yavuz Demiray¹, Sait Albayram², Cengiz Yalçınkaya¹, Zehra Haşıloğlu²

¹Istanbul University Cerrahpasa Medicine Faculty Neurology Department
²Istanbul University Cerrahpasa Medicine Faculty Radiology Department

Keywords: Homocystinuria, epilepsy, stroke

Abstract

The damage mechanism of homocystinuria which occurs due to cystationine β-synthase deficiency, is not known. However it is proposed that transmetilation disorders and NMDA mediated excitotoxicity cause endothelial damage thereby leading to vascular thrombosis and epileptic seizures. In this case report the cranial MRI and MRI angiography of a 10 year-old boy with homocystinuria revealed bilateral internal carotid artery occlusion so in the context of clinical and radiological findings of homocystinuria,emergence of mechanisms are emphasized.