PMC9247212_01
Brain imaging and pedigree of the proband. (A) T2-weighted MRI of the brain performed at 2 years and 11 months shows diffuse bilateral hyperintensity with a symmetrical distribution involving the supratentorial (left upper) and the cerebellar white matter (right upper) while sparing the basal ganglia (left lower). Elevation of the choline peak was detected on MR spectroscopy from the centrum semiovale but not from the basal ganglia (right lower). The proband inherited biallelic EIF2B3 variants from both parents (B). Both variants are highly conserved (C).
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PMC9247212_01_fgene-13-893057-g001.jpg
F1
FLAIR hyperintensity in a symmetrical distribution involving the supratentorial and the cerebellar white matter with sparing of the basal ganglia (Figure 1A). FLAIR hypointensity was detected around the ventricle, suggestive of tissue rarefaction.