case_images: PMC10753760_01
case_images: Pedigree of the family with MMERV. In the family trees, +/+ denotes normal individuals with two wild-type alleles, whereas +/m denotes heterozygous carriers of c.1208A>G in MYRF. Squares indicate males; circles indicate females; black indicate the proband of the family. An arrow indicates propositus. Slash marks indicate subjects who are deceased. Roman numerals indicate generations and Arabic numbers indicate subjects. MMERV, MYRF-related mild encephalopathy with reversible myelin vacuolization.
case_images: fgene-14-1284060-g001.jpg
case_images: PMC10753760_01_fgene-14-1284060-g001.jpg
case_images: F1
case_images: The pedigree of the family is depicted in Figure 1.
case_images: MRI of the proband (III-1) before and after the onset of the disease at 19 (A, B) and 27 (C, D) years of age.The brain MRI showed high intensities in bilateral white matter in the centrum semiovale and corpus callosum on diffusion-weighted (A1,A2,C1,C2), T2-weighted (C5), and low intensities on apparent diffusion coefficient images (A3,A4,C3,C4). These abnormal intensities disappear within two weeks (B1-B4 and D1-D5). The yellow arrow indicates involved structures.
case_images: fgene-14-1284060-g002.jpg
case_images: PMC10753760_01_fgene-14-1284060-g002.jpg
case_images: F2
case_images: Brain MRI showed abnormal intensities in bilateral white matter in the centrum semiovale and corpus callosum on diffusion-weighted, T2-weighted and apparent diffusion coefficient images, consistent with an acute demyelinating lesion (Figures 2A). After 13 days, the cranial MRI showed complete normalization of the lesion (Figures 2B). B-cell count was 49.38/ul.The video electroencephalogram (EEG) showed a slight enhancement of slow waves in the theta band. Brain MRI showed abnormal intensities in bilateral white matter in the centrum semiovale and corpus callosum on diffusion-weighted, T2-weighted and apparent diffusion coefficient images, consistent with an acute demyelinating lesion (Figures 2C). The brain MRI lesion was completely normalized after 1 week (Figures 2D).
case_images: MYRF gene sequeneing results. II-2 are healthy individuals, the rest (I-1, II-1, III-1) are mutation carriers.
case_images: fgene-14-1284060-g003.jpg
case_images: PMC10753760_01_fgene-14-1284060-g003.jpg
case_images: F3
case_images: Whole exome sequencing of the proband revealed a missense mutation (MYRF- Q403R) at codon 403 of the MYRF gene: c.1208A>G (p.Gln403Arg) (Figure 3), resulting in an amino acid change from glutamine to arginine.