Adult-Onset Vanishing White Matter Disease Due to a Novel EIF2B3 Mutation

Objective: To report a novel mutation in the gene EIF2B3 responsible for a late-onset form of vanishing white matter disease. Design: Case report. Setting: University teaching hospital. Patient: A 29-year-old pregnant woman with a history of premature ovarian failure and hemiplegic migraines presented with a 10-week history of progressive confusion and headaches. Magnetic resonance imaging of the brain revealed a diffuse leukoencephalopathy. Results: Sequencing of the exons and intron boundaries of EIF2B3 uncovered 2 missense mutations: c. 260C>T (p. Ala87Val) and c. 272G>A(p.Arg91His). To our knowledge, the latter missense mutation has never been previously reported. Conclusion: This is the second report of adult-onset vanishing white matter disease due to mutations in EIF2B3 and the first report of the c. 272G>A (p.Arg91His) missense mutation. Arch Neurol. 2012; 69(6): 765-768. Published online February 6, 2012. doi:10.1001/archneurol.2011.1942