Moyamoya disease (MMD): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Moyamoya disease (MMD): investigations. RFN213 p.R4810K: in all patients. Fully referenced neurology checklist.
Genetic testing
- RFN213 p.R4810K: in all patients
Digital subtraction angiography (DSA)
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Magnetic resonance imaging (MRI) brain: features
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High resolution intracranial vessel wall imaging (HRIVWI)
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References
- Kraemer M, Heienbrok E, Berlit P. Moyamoya disease in Europeans. Stroke 2008; 39:3193-3200.
- Bersano A, Khan N, Fuentes B, et al. European Stroke Organisation (ESO) guidelines on moyamoya angiopathy endorsed by vascular European reference network (VASCERN). Eur Stroke J 2023; 8:55-84.
- Ohta T, Tanaka H, Kuroiwa T. Diffuse leptomeningeal enhancement, “ivy sign”, in magnetic resonance images of moaymoya disease in childhood: case report. Neurosurgery 1995; 37:1009-1012.
- Wang LX, Wang H, Hao FB, et al. Ivy sign in moyamoya disease: a comparative study of the FLAIR vascular hyperintensity sign against contrast-enhanced MRI. Am J Neuroradiol 2021; 42:694-700.
- Li B, Liu Y, Du X, et al. Champagne bottle neck sign predicts intracranial hemorrhage in Moyamoya disease: a long-term follow-up study. Clin Neurol Neurosurg 2026; 260:109233.
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