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
  • 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

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.

Keyword

Leukoencephalopathies; Cataract; Primary ovarian insufficiency
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