Moyamoya disease (MMD) is a condition characterized
by the gradual narrowing and blockage of blood vessels in the brain,
specifically those in the circle of Willis and the arteries that supply it.
This results in reduced blood flow and oxygen to the brain, leading to
progressive symptoms and potential complications. The underlying
pathophysiological mechanism remains elucidated. However, recent studies have
highlighted numerous etiologic factors: abnormal immune complex responses,
susceptibility genes, branched-chain amino acids, antibodies, heritable
diseases, and acquired diseases, which may be the great potential triggers for
the development of moyamoya disease. Its clinical presentation has varying
degrees from transient asymptomatic events to significant neurological
deficits. Moyamoya disease (MMD) shows different patterns in children and
adults. Children with MMD are more susceptible to ischemic events due to
decreased blood flow to the brain. Conversely, adults with MMD are more prone
to hemorrhagic events involving brain bleeding. Children with MMD may
experience a range of symptoms including motor impairments, sensory issues,
seizures, headaches, dizziness, cognitive delays, or ongoing neurological
problems. Although adults may present with similar clinical symptoms as
children, they are more prone to experiencing sudden onset intraventricular,
subarachnoid, or intracerebral hemorrhages. One of the challenges in moyamoya
disease is the potential for misdiagnosis or delayed diagnosis, particularly
when physicians fail to consider MMD as a possible cause in stroke patients.
This review aims to provide a comprehensive overview of recent global studies
on the pathophysiology of MMD, along with advancements in its management.
Additionally, the review will delve into various surgical treatment options
for MMD, as well as its rare occurrence alongside atrioventricular
malformations. Exciting prospects include the use of autologous bone marrow
transplant and the potential role of Connexin 43 protein treatment in the
development of moyamoya disease.
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