TURKISH JOURNAL OF NEUROLOGY, sa.2, ss.106-109, 2011 (ESCI)
The damage mechanism of homocystinuria that occurs due to cystathionine beta-synthase deficiency is not known. However, it is proposed that transmethylation disorders and NMDA-mediated excitotoxicity cause endothelial damage, thereby leading to vascular thrombosis and epileptic seizures. In this case report, the cranial magnetic resonance imaging (MRI) and MRI angiography of a 10-year-old boy with homocystinuria revealed bilateral internal carotid artery occlusion. The mechanisms of the emergence of clinical and radiological findings of homocystinuria are discussed.