20 Moyamoya Disease

Lorenzo Rinaldo, Soliman Oushy, and Fredric B. Meyer

Abstract

Moyamoya disease (MMD) is a cerebrovascular disorder resulting in recurrent ischemia and intracranial hemorrhage. The angiographic hallmarks of MMD are stenosis of the supraclinoid internal carotid artery followed by appearance of small collateral vessels feeding the basal surfaces of the brain, termed “moyamoya vessels.” Compensatory intracranial anastomotic connections between the anterior and posterior circulation, as well as extracranial to intracranial connections, can be observed as the disease progresses. MMD is considered to be idiopathic and the underlying pathophysiology is not well understood. A familial form of the disease affecting roughly 10 to 15% of patients has also been identified and is associated with mutations in the RNF213 gene in 95% of inherited cases. The natural history of MMD is progressive and associated with considerable morbidity and mortality. In cases of recurrent symptoms, revascularization in the form of direct or indirect bypass procedures is indicated. There are no randomized data demonstrating superiority of direct over indirect techniques in terms of reducing future ischemic or hemorrhagic events, though direct revascularization may be preferable in adult patients given the relatively decreased capacity for neovascularization in this population when compared to pediatric patients. Herein, we will review the clinical and radiographic features of MMD in both adult and pediatric populations, discuss surgical revascularization techniques, and review outcomes of various treatment strategies.

Key words

angiography - cerebral ischemia - epidemiology - intracranial hemorrhage - moyamoya disease - microsurgical revascularization - natural history

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