Acute Left Middle Cerebral Artery Perforator Territory Infarction in a Patient with Bilateral Middle Cerebral Artery Vasculopathy and a Rare COL4A2 c.941del Variant

Lim, Changmok; Sohn, Jae Eun; Kim, Sung Hun

doi:2026.44.4.336

J Korean Neurol Assoc > Volume 44(4); 2026 > Article

Case Report

Journal of the Korean Neurological Association 2026;44(4): 336-338. doi: https://doi.org/10.17340/jkna.2026.0035

COL4A2 c.941del 변이를 동반한 양측 중대뇌동맥 혈관병증 환자에서 발생한 좌측 중대뇌동맥 관통동맥 영역 급성 뇌경색

임창목, 손재은, 김성훈

강원대학교병원 신경과

Acute Left Middle Cerebral Artery Perforator Territory Infarction in a Patient with Bilateral Middle Cerebral Artery Vasculopathy and a Rare COL4A2 c.941del Variant

Changmok Lim MD, Jae Eun Sohn MD, Sung Hun Kim MD, PhD

Department of Neurology, Kangwon National University Hospital, Chuncheon, Korea

Corresponding Author: Sung Hun Kim ,Tel: +82-33-258-2413, Fax: +82-33-258-2103, Email: marinen@kangwon.ac.kr

Received: May 14, 2026 Revised: July 17, 2026 Accepted: July 20, 2026 Published online: November 1, 2026

Abstract

We report a 25-year-old man with acute left middle cerebral artery perforator territory infarction, bilateral middle cerebral artery stenoses, right M1 vessel-wall enhancement suggesting non-atherosclerotic vasculopathy, and a rare heterozygous COL4A2 c.941del frameshift variant, highlighting the need to consider COL4A1/A2-related vasculopathy in young stroke patients with atypical bilateral intracranial arterial abnormalities.

Key Words: Middle cerebral artery | Intracranial arterial diseases | COL4A2