Moyamoya Vasculopathy and Atypical Moyamoya-like Patterns: Insights into Diagnosis and Therapeutic Implications

The aim of this narrative review is to update current knowledge on Moyamoya vasculopathy (MMV) by addressing key diagnostic debates-including laterality; genetic subtypes; regional epidemiology; and features distinguishing Moyamoya Disease (MMD), Moyamoya Syndrome (MMS) and their mimics.

Key and representative studies were identified through PubMed/MEDLINE and Scopus, focusing on publications from 2014-2025 while also considering earlier seminal works.

MMD typically presents with bilateral steno-occlusion of the terminal internal carotid arteries (ICAs) and proximal middle and anterior cerebral arteries (MCAs/ACAs) due to concentric vascular thickening, accompanied by characteristic 'puff-of-smoke' collaterals, whereas MMS shows a similar but more often unilateral pattern with fewer collaterals, influenced by the underlying condition. However, this distinction often fails to reflect the full clinical and radiological variability of the Moyamoya spectrum. Atypical moyamoya-like patterns, often confined to M1 or A1 segments, further complicate diagnosis. Clinical manifestations ranged from asymptomatic cases to ischemic or hemorrhagic strokes, and occasionally seizures. Diagnosis relied on multimodal imaging (DSA, MRA, CTA), but genetic mutations, contributing to radiological variability, often complicate differentiation between MMD, MMS, and mimics. Management is pattern-specific: MMS and atypical forms are generally managed conservatively, whereas MMD frequently requires surgical revascularization, particularly in children and symptomatic adults. Nevertheless, variability within diagnostic categories limits the applicability of rigid treatment protocols.

Current diagnostic algorithms remain limited. Integrating advanced imaging findings with clinical, genetic, and epidemiological data is essential to define the full disease spectrum, improve diagnostic accuracy, and inform patient management and outcome assessment.