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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.
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Lim et al. (2026) studied this question.
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