Bilateral Internal Carotid Artery Occlusion Due To Homocystinuria: Case Report

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.

Keywords

• Homocystinuria
• epilepsy
• stroke