A Vanishing White Matter Disease Case with a Homozygous Point Mutation in the EIF2B2 Gene Assessed by the Whole-Exome Sequencing
- Author:
Ae Ryoung KIM
1
;
Dong Ho PARK
;
Jong-Mok LEE
Author Information
- Publication Type:증례
- From:Journal of the Korean Neurological Association 2021;39(1):19-22
- CountryRepublic of Korea
- Language:Korean
- 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.
