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KMID : 0359720220400040322
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Journal of the Korean Neurological Association
2022 Volume.40 No. 4 p.322 ~ p.326
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Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Mistaken for Stroke: A Case Report
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Hwang Sean
Ha Jang-Wan
Choi Min-Young
Choi Min-Young
Cho Eun-Bin
Yang Tae-Won
Park Ki-Jong
Jung Seung-Uk
Kim Seung-Joo
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Abstract
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Hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) is a rare autosomal dominant disorder that is caused by colony stimulating factor 1 receptor gene mutation degenerating the cerebral white matter. It is characterized by various symptoms such as progressive cognitive decline, personality changes, and motor disorders. Since these clinical features are not consistent, HDLS is often underdiagnosed or misdiagnosed. This case report presents a patient priorly diagnosed with cerebral infarction by clinical features, but eventually with HDLS by a genetic test.
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KEYWORD
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Hereditary diffuse leukoencephalopathy with axonal spheroids, Stroke, Diffusion weighted image
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