PMC10240855_01
Brain MRI features at 2 years of age. Neuroimaging findings demonstrating diffuse hypomyelination. A. Sagittal T1-weighted MRI showing a thin corpus callosum (red arrow) and mild superior cerebellar vermis atrophy (red dashed arrow). B, C, D. Diffuse hypomyelination, with isointense signal of the cerebral white matter relative to grey matter on T1-weighted image (B, coronal T1) and hyperintensity of cerebral white matter on T2-weighted images (C, D, axial T2 at the levels of the pons and centrum semiovale, respectively), relative to grey matter structures.
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Diffuse hypomyelination, with hyperintensity of the white matter on T2-weighted images and isointense white matter signal on T1-weighted images relative to grey matter structures, was likewise seen on repeat MRI at 2 years of age (Figure 1A-D). Additional neuroradiological findings included a thin corpus callosum and mild cerebellar vermis atrophy (Figure 1A).
PMC10240855_02
Genetic analysis of the EIF2AK2 variant. A. Pedigree of family and B. Chromatograms of affected individual and healthy parents, confirming the variant in EIF2AK2 is absent from the healthy parents. Of note, written informed consent from legal guardians of the patient was obtained and the study was approved by the Montreal Children's Hospital and the McGill University Health Center (11-105-PED, 2019-4972).
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Parentage was confirmed by Emedgene and Sanger sequencing was performed to confirm the variant (Figure 2A,B).