Epidemiology, diagnosis and treatment of moyamoya disease (Review)

Abstract

Moyamoya disease (MMD) is a type of chronic cerebrovascular occlusion disease, which frequently occurs in East Asian populations, including pediatric and adult patients, and may lead to ischemic or hemorrhagic stroke, headache, epilepsy or transient ischemic attack. To date, the underlying mechanisms of MMD have remained to be fully elucidated, but certain studies have indicated that genetic factors may be an important component of its development. Cerebral angiography is the best approach for diagnosing MMD. However, with technological advances, non-invasive techniques are increasingly used to accurately evaluate MMD. MMD is commonly treated via surgery, and an increasing number of patients are benefitting from the intra-and extra-cranial revascularization. The present article provides a comprehensive review of MMD on the basis of previous research.

Moyamoya Syndrome in a 32-Year-Old Male With Sickle Cell Anemia

“…The exact pathogenesis of MMD is not clearly understood [ 13 ]. Risk factors for MMD include East Asian genetics, pediatric age group, female gender and family history of MMD [ 1 , 4 , 12 ]. Common underlying conditions associated with MMS include neurofibromatosis, systemic lupus erythematosus, tuberous sclerosis, periarteritis nodosa, mesial temporal sclerosis, thyrotoxicosis, Down’s syndrome and previous radiation therapy [ 1 , 4 , 12 ].…”

“…Children most often present to clinical attention with ischemic strokes or seizures. On the other hand, adults most commonly present to clinical attention with hemorrhagic strokes [ 4 ]. Epidemiological studies confirm that MMD/MMS is most frequent in East Asian countries and very occasional in Western countries [ 4 ].…”

“…On the other hand, adults most commonly present to clinical attention with hemorrhagic strokes [ 4 ]. Epidemiological studies confirm that MMD/MMS is most frequent in East Asian countries and very occasional in Western countries [ 4 ]. Our patient was an adult of a Middle-eastern origin and presented with shortness of breath and agitation.…”

“…Diagnostic criteria for definitive MMD include occlusive changes at the ICA bilaterally or unilaterally as well as abnormal collateral blood vessels based on radiological imaging [ 4 , 5 ]. Catheter angiography is the definitive diagnostic test; however, it is relatively invasive.…”

“…Characteristically, MMD is associated with a pathological formation of a new blood vessel known as ‘moyamoya vascular’, which is a Japanese term that denotes a cloud of smoke. This term was first introduced in 1969 to describe the radiological findings of these distinct blood vessels in cerebral angiograms [ 1 - 4 ].…”