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.


METHODS
Case report.


METHODS
University teaching hospital.


METHODS
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.


CONCLUSIONS
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.
Department of Neuroradiology, Montreal Neurological Institute, McGill University, Quebec, Canada.
Roberta
R
La Piana
Adeline
A
Vanderver
Marjo
M
van der Knaap
Louise
L
Roux
Donatella
D
Tampieri
Bernard
B
Brais
Geneviève
G
Bernard
D000328:Adult; D001921:Brain / Q000473:pathology*; D004252:DNA Mutational Analysis; D020717:Eukaryotic Initiation Factor-2B / Q000235:genetics*; D005260:Female; D006801:Humans; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy
D020717:Eukaryotic Initiation Factor-2B