ArticleCureus2026
Infantile-Onset Vanishing White Matter Disease in an Azerbaijani Infant With a Homozygous EIF2B5 p.(Arg195His) Variant.
Article in Cureus, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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5 authors.
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Abstract
An eight-month-old Azerbaijani male infant, born to consanguineous (first-cousin) parents, presented with developmental regression and daily seizures following a febrile illness. He achieved head control at six months (delayed). During the same month, a rotavirus infection (fever, vomiting, and diarrhea) precipitated focal and generalized seizures. Neurological examination at eight months demonstrated severe hypotonia, hyperreflexia, and markedly reduced voluntary movements, with preserved visual and auditory responses. Brain MRI showed diffuse supra- and infratentorial white matter T1 hypointensity and marked T2 hyperintensity, with loss of subcortical U-fibers and deep white matter fluid-attenuated inversion recovery hypointensity consistent with rarefaction/degeneration, while the basal ganglia and cerebral cortex were relatively spared, an imaging pattern highly suggestive of advanced vanishing white matter (VWM) disease. Genetic testing identified a homozygous
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