The first Korean case of Late-onset Vanishing White Matter Disease.

초록

Introduction: Vanishing white matter disease (VWM) is an autosomal recessive disease caused by mutations in five genes (eukaryotic translation initiation factor 2B [eIF2B] 1-5) which results in a defect in protein synthesis. Although disease onset is usually in late infancy or early childhood, the few reported adult-onset cases have been associated with mutations in R113H, E213G, and G1459A. Until now, the oldest reported person with VWM was 35 years old. Case: We report a Korean patient with adult-onset VWM who developed symptoms at 45 years of age. Her symptoms include dementia and spasticity, which have never before been reported in adult-onset VWM. Genetic analysis of her EIF2B5 gene identified a known mutation (p.Ser447Leu) as well as a novel mutation (p.Thr182Met). Discussion: This case suggests that adult-onset VWM can present with diverse clinical manifestations, which confirms that more genetic studies are needed to identify unknown genetic mutations that cause VWM.