Imaging-Based Diagnostic Approaches in Moyamoya Disease: A Scoping Review

Area of Science:

• Neurology
• Radiology
• Medical Imaging

Background:

• Moyamoya disease (MMD) is a progressive cerebrovascular disorder.
• Imaging is crucial for MMD diagnosis, staging, and management.
• Heterogeneous evidence from diverse imaging modalities complicates synthesis.

Purpose of the Study:

• To systematically map and critically appraise imaging-based diagnostic approaches for MMD.
• To summarize the diagnostic performance, clinical utility, and limitations of various imaging modalities in MMD.
• To inform evidence-based diagnostic pathways for MMD.

Main Methods:

• Comprehensive literature search across major databases for studies on imaging in human MMD.
• Analysis of 33 studies (1995-2023) evaluating digital subtraction angiography, MRI, CT, nuclear medicine, ultrasound, neurophysiological methods, and AI.
• Critical appraisal of diagnostic performance, clinical utility, and limitations.

Main Results:

• Digital subtraction angiography remains the reference standard for MMD confirmation and surgical planning.
• Noninvasive modalities like MRI and CT angiography offer complementary information on morphology, hemodynamics, and parenchymal injury.
• AI shows promise but requires further validation; methodological heterogeneity limits current evidence.

Conclusions:

• A multimodal imaging strategy integrating structural and functional information is supported for MMD diagnosis and management.
• Future research needs standardized protocols, longitudinal designs, and validated imaging biomarkers.
• Enhanced diagnostic pathways are needed for effective MMD care.