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KMID : 1034720230150020105
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Journal of Neurosonology and Neuroimaging
2023 Volume.15 No. 2 p.105 ~ p.108
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Unusual Case of Young Age Onset Stroke Suspected to Be Associated with Pseudoxanthoma Elasticum Gene Mutation in ABCC6: A Case Report
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Kim Hyun-Kee
Park Eun-Jee
Kim Young-Seo
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Abstract
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Ischemic stroke in young adults can pose diagnostic challenges, particularly when the clinical features deviate from the common presentation. Here, we present the case of a 31-year-old female with transient left-sided hemiparesis. Brain magnetic resonance imaging and angiography revealed right frontoparietal lobe infarction and stenosis of the right internal carotid arteries. Genetic testing revealed a heterozygous variant of unknown significance in the ATP-binding cassette subfamily C member 6 gene NM_001171.6:c.3739C>A (p.Pro1247Thr) that is associated with pseudoxanthoma elasticum, which is a rare disorder characterized by abnormal mineralization of elastic tissues. Although variants of unknown significance can only be classified as causative conditions if all other possible causes are ruled out, this report suggests the importance of considering unusual genetic conditions in young patients with ischemic stroke. Further genetic research, functional studies, and genetic counseling are vital for a comprehensive understanding of these cases.
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KEYWORD
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pseudoxanthoma elasticum, ABCC6, ischemic stroke
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