Moyamoya disease (MMD): investigations

Evidence-based neurology checklist on moyamoya disease (mmd): investigations: Genetic testing RFN213 p.R4810K: in all patients Digital subtraction angiography (DSA) Magnetic resonance imaging (MRI) brain: features High resolution intracranial vessel wall imaging (HRIVWI)

Genetic testing

  • RFN213 p.R4810K: in all patients

Digital subtraction angiography (DSA)

Magnetic resonance imaging (MRI) brain: features

High resolution intracranial vessel wall imaging (HRIVWI)

References

  1. Kraemer M, Heienbrok E, Berlit P. Moyamoya disease in Europeans. Stroke 2008; 39:3193-3200.
  2. 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. 
  3. 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.
  4. 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.
  5. Kathuveetil A, Sylaja PN, Senthilvelan S, Kesavadas C, Banerjee M, Jayanand Sudhir B. Vessel wall thickening and enhancement in high-resolution intracranial vessel wall imaging: a predictor of future ischemic events in moyamoya disease. AJNR 2020; 41:100-105.
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