Hyperhomocysteinemia in a Patient with Moyamoya Disease

Abstract

Moyamoya disease is a chronic progressive cerebrovascular disease characterized by bilateral occlusion or stenosis of arteries around circle of Willis. We report a case of 18-year-old female presented with recurrent episodes of headache and vertigo. On cerebral angiography, the patient was diagnosed to have moyamoya disease. On further evaluation, thrombophilia profile showed increased homocysteine level. The patient was treated conservatively with cobalamin and aspirin and advised for revascularization. According to the literature, there are few case reports of moyamoya disease with thrombotic disorders. Hence, we are reporting this interesting and rare case.

Hyperhomocysteinemia independently associated with adult moyamoya disease: hospital based study of 237 patients

“…In patients from South China, the detection rate of MMD is 3.2% in patients undergoing cerebral angiography, yet we do not know the exact incidence of adult MMD. from case reports of MMD (bilateral or unilateral), in which homocysteine level was also noted to be a risk factor for MMD (5,23). Many retrospective and prospective studies have confirmed that hyperhomocysteinemia is a potential independent risk factor for atherosclerosis (22), and an increased homocysteine level has been reported to be an independent risk factor for cerebral atherosclerosis (2).…”

“…A recent study indicated an association between two novel single-nucleotide polymorphisms in the gene regulating homocysteine metabolism (rs9651118 in MTHFR and rs117353193 in TCN2), resulting in increased homocysteine levels in patients with MMD (7,8). We believe that the genetic metabolic factor for homocysteinemia in the release of nitric oxide is the proposed mechanism (21), resulting in the development of moyamoya vessels and stroke (23).…”