An Adult Moyamoya Disease Confirmed by Ring Finger Protein 213
Gene Test and Radiological Studies

J Korean Neurol Assoc > Volume 32(2); 2014 > Article

Journal of the Korean Neurological Association 2014;32(2): 117-120.

Ring finger protein 213 유전자검사와 영상추적검사를 통해 확인한 성인 모야모야병

권순욱, 박윤경 문준규 정우교 김동엽 신종화 차지훈 기창석 방오영 김석재

성균관대학교 의과대학 삼성서울병원 신경과, 영상의학과 a , 진단검사의학과성균관대학교 의과대학 삼성서울병원 신경과, 영상의학과 , 진단검사의학과

An Adult Moyamoya Disease Confirmed by Ring Finger Protein 213 Gene Test and Radiological Studies

Soonwook Kwon

Department of Neurology, Radiology and Center for Imaging Science and Laboratory Medicine & Genetics , Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

Abstract

A 63-year-old female complained of transient dysarthria. MRA was conducted to evaluate this symptom, revealing distal internal carotid artery occlusion with collateral vessel development, suggesting Moyamoya disease, which had not been detected in MRA performed 5?years previously. Vascular risk factors and laboratory findings suggested no cardiac or autoimmune diseases. The diameter of stenosis of the middle cerebral artery on high-resolution MRI was 2.11?mm, and genetic evaluation revealed mutation of the gene encoding ring finger protein 213 (RNF213). High-resolution MRI and gene studies are useful for distinguishing between Moyamoya disease and atherosclerosis. Key Words: Moyamoya disease, Ring finger protein 213, High-resolution MRI