Moyamoya syndrome concomitant with hyperhomocysteinemia and a Methylenetetrahydrofolate reductase gene mutation: a case report and brief review

The role of hyperhomocysteinemia and methylenetetrahydrofolate reductase (MTHFR) gene mutation in the pathogenesis of ischemic stroke has been a topic of growing interest. Reports available in literature describe this association, primarily in cases of pediatric stroke. We report a case of a 23-year-old woman presented to the SARAH Network of Rehabilitation Hospitals with a history of recurrent ischemic strokes during infancy and an etiological diagnosis of Moyamoya syndrome. Evaluation revealed mild elevation of serum homocysteine levels and a homozygous MTHFR gene mutation, no other associated abnormalities were detected. There is evidence of the presence of these abnormalities in some cases of pediatric ischemic stroke in the clinical setting. Data are limited regarding the role of hyperhomocysteinemia and an MTHFR gene mutation in causing vascular lesions/damage. Further studies involving patients with ischemic stroke (primarily those with arterial occlusion), are warranted to better establish such a correlation. *Correspondence to: Abreu Montanaro VV, Neurological Rehabilitation Department, Sarah Hospital, Brasília Brazil, Tel: +55 61 33191111; E-mail: vinicius_montanaro@yahoo.com.br Received: March 05, 2018; Accepted: March 27, 2018; Published: March 31, 2018 Introduction Data available in literature describe an association between hyperhomocysteinemia and a methylenetetrahydrofolate reductase (MTHFR) gene mutation and vascular events [1]. A possible correlation is known to exist between 677TT MTHFR gene polymorphism and the presence of large-vessel lesions [2] and Moyamoya syndrome. However, the correlation between the 677TT gene polymorphism and Moyamoya syndrome is not conclusive [3]. In the present paper, we report the case of a patient who presented with Moyamoya syndrome associated with hyperhomocysteinemia and a MTHFR gene mutation.