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KMID : 0359720210390010019
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Journal of the Korean Neurological Association
2021 Volume.39 No. 1 p.19 ~ p.22
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A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
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Kim Ae-Ryoung
Park Dong-Ho
Lee Jong-Mok
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Abstract
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A 30-year-old female patient presented with a progressive gait disturbance, who had been previously diagnosed for cataract and ovarian failure. Brain magnetic resonance imaging showed a high signal intensity of white matter in fluid attenuated inversion recovery and low signal intensity in brain volume imaging, suggesting demyelinating leukodystrophy. Genetic analysis confirmed the pathogenic homozygous mutations c.245T>A in the EIF2B2 gene, which is associated with vanishing white matter disease.
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KEYWORD
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Leukoencephalopathies, Cataract, Primary ovarian insufficiency
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