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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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.