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Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation
Roberta La Piana1, Adeline Vanderver, Marjo van der Knaap
1Department of Neuroradiology, Montreal Neurological Institute, McGill University, Quebec, Canada.
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.
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