Association between plasminogen activator inhibitor-1 and methylenetetrahydrofolate reductase polymorphism with increased homocysteine levels in a 14-year-old girl with ischemic stroke

Abstract

We present a 14-year-old girl with ischemic stroke in the right middle cerebral artery territory, associated with polymorphism 4G/4G plasminogen activator inhibitor-1 (PAI-1:genotype 4G/4G) and homozygous genotype C677T for methylenetetrahydrofolate reductase with consequential hyperhomocysteinemia. In the initial phase, clinical presentation and laboratory results indicated acute disseminated encephalomyelitis and treatment with i.v. globulins and plasmapheresis were carried out. Control MRI with angiography showed a post-ischemic lesion after occlusion of the right internal carotid artery. Analysis of prothrombotic disorders and association with the acquired disorders are significant in evaluating the etiology of ischemic stroke in children. This case shows the variability of etiological inherited and acquired factors in children with stroke and complicated clinical course, which can correspond to acute disseminated encephalomyelitis in the acute phase and also points to the importance of identifying the cause for the possible secondary stroke prevention.