Western Moyamoya Phenotype: A Scoping Review

Area of Science:

• Neurology
• Vascular Medicine
• Radiology

Background:

• Moyamoya disease is a rare, progressive stenosis of the internal carotid artery terminus.
• The term 'moyamoya' describes the characteristic 'puff of smoke' appearance of collateral vessels.
• While prevalent in East Asia, moyamoya in Western countries shows distinct demographic and clinical features.

Purpose of the Study:

• To characterize the Western phenotype of moyamoya disease.
• To review and summarize the demographic profile, clinical symptomatology, and associated conditions of moyamoya in Western populations.

Main Methods:

• A scoping review of the Western literature on moyamoya was conducted.
• The PubMed database was searched using keywords 'moyamoya case report'.
• Studies from Western institutions reporting on moyamoya and its associations were included, guided by PRISMA-ScR principles.

Main Results:

• The review identified various clinical associations with moyamoya disease in Western populations.
• Demographic profiles and clinical presentations specific to the Western moyamoya phenotype were summarized.
• Reported disease associations were elucidated to better understand the Western presentation.

Conclusions:

• Moyamoya disease exhibits a distinct phenotype in Western countries, differing from its East Asian presentation.
• Understanding these differences is crucial for accurate diagnosis and management of moyamoya in Western patients.
• Further research is warranted to fully elucidate the Western moyamoya phenotype and its implications.