J Korean Neurol Assoc.
2021 Feb;39(1):19-22. 10.17340/jkna.2021.1.3.
A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
- Affiliations
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- 1Department of Rehabilitation Medicine, Kyungpook National University Hospital, Daegu, Korea
- 2Department of Rehabilitation Medicine, School of Medicine, Kyungpook National University, Daegu, Korea
- 3Department of Ophthalmology, Kyungpook National University Hospital, Daegu, Korea
- 4Department of Ophthalmology, School of Medicine, Kyungpook National University, Daegu, Korea
- 5Department of Neurology, Kyungpook National University Hospital, Daegu, Korea
- 6Department of Neurology, School of Medicine, Kyungpook National University, Daegu, Korea
- KMID: 2512526
- DOI: http://doi.org/10.17340/jkna.2021.1.3
Abstract
- 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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