Lateral medullary infarction in a patient with Moyamoya disease associated with RNF213 variants: a case report

Abstract

Background: Moyamoya disease (MMD) is a rare cerebrovascular disease radiologically characterized by progressive bilateral occlusion of the distal portion of the internal carotid artery and compensating collaterals. Herein, we report a case of medullary infarction in a patient with MMD.Case Report: We present the case of a 54-year-old male with hypertension, hyperlipidemia, and unstable angina with sudden onset dysarthria and ataxia. Diffusion-weighted and T2-weighted images of magnetic resonance imaging showed a high-signal intensity lesion on the right lateral medulla, suggestive of acute infarction. Transfemoral cerebral angiography also demonstrated bilateral middle cerebral artery (MCA) occlusion. Testing of the ring finger protein 213 (RNF213) gene revealed a homozygous p.R4810K variant that was possibly associated with posterior circulation involvement.Conclusion: When the MCA is occluded in MMD, there is a possibility that medullary infarction may occur due to the mechanism of increased hemodynamic stress on the anastomotic posterior vessels.