PMC9326065_01
Evolution of lesions on brain magnetic resonance imaging (MRI). Hyperintensity lesions (arrows) in centrum semiovale and corona radiata on axial T2-weighted imaging (WI, A) and coronal T2-WI (B, arrows), hypointense lesions on T1-WI (C, arrows), and isointensity on contrast-enhanced MRI (D). MRI reveals more hyperintensity signals in bilateral centrum semiovale (E, arrows), corona radiata (F,G, arrows), and corpus callosum (H, arrows) on T2-WI than before. Three months later, repeated MRI shows complete disappearance of the abnormal white matter signal on T2-WI (I,J), fluid-attenuated inversion recovery imaging (K), and diffusion WI (L).
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F1
Contrast-enhanced brain MRI demonstrated abnormal signals in the bilateral centrum semiovale and corona radiata (Figures 1A-D). MRI revealed more obvious abnormal signals in the bilateral centrum semiovale (Figure 1E), corona radiata (Figures 1F,G), and corpus callosum (Figure 1H) when compared to his previous MRI. Three months after discharge, MRI showed improvement in abnormal signal intensity in the bilateral basal ganglia, paraventricular white matter, and corpus callosum (Figures 1I-L).
Sanger sequencing of heterotopic sites of AARS1 in the proband. Forward sequencing shows the proband had [c.2093C > T, arrow, (p.Ser698Phe)] heterozygous mutation in exon 15 of AARS1 (chr16).
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Whole exon sequencing (Figure 2 showed a heterozygous mutation in the alanyl-tRNA synthetase 1 (AARS1) gene [c.2093C > T(p.Ser698Phe)].