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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Figure 1. Axial fluid-attenuated inversion recovery magnetic resonance images. A, Symmetric involvement is noted at the level of the cerebellar white matter. B, Diffuse and symmetric leukodystrophy is evident; the U fibers, the outer rim of the corpus callosum, and the internal capsule are relatively spared. Small areas of cystic degeneration (arrow) are noted bilaterally in the periventricular white matter. The typical widespread white matter rarefaction is lacking. C, Diffuse and symmetric white matter involvement is noted at the level of the centrum semiovale.
Figure 2. Sagittal T1-weighted magnetic resonance image shows the diffuse and homogeneous white matter hypointense signal in the deep cerebral white matter, relatively sparing the U fibers (arrow).
Figure 3. Genomic sequence chromatograms of the 2 missense mutations in exon 3 of EIF2B3: the known c.260C>T mutation and the novel c.272G>A mutation.
Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature
Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal
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