MOYAMOYA DISEASE: review of current literature
Keywords:
moyamoya disease, arteriopathy, cerebral angiography, revascularization, recurrent strokes, hyperperfusion syndrome.Abstract
Moyamoya disease (MD) is a rare cerebrovascular disease characterized by long-term and progressive occlusion of large intracranial arteries. It is found predominantly in the population of East Asia. Most cases of MD are sporadic, but there is a small percentage of familial cases. The mode of inheritance is reported to be autosomal dominant with incomplete penetrance. Research shows that the susceptibility gene for MD is located on chromosome 17. The clinical presentation varies and depends on the age and geographic region of the patient. Children mainly experience neurological episodes associated with ischemia, whereas MD in adults can present as both an ischemic event and intracranial hemorrhage (ICH). The gold standard for diagnosis is cerebral angiography, which reveals the “smoky” appearance of the arteries at the base of the skull, which gives the disease its name. Treatment is mainly surgical and includes direct and indirect revascularization procedures to prevent recurrence of both ischemic and hemorrhagic stroke. However, combination revascularization procedures are now growing in popularity due to studies showing better long-term results.
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