PMC7765750_01
MRI features of CSF1R-related leukoencephalopathy. (A) T1-weighted sagittal images showed thinning of the corpus callosum (arrows). Fluid-attenuated inversion recovery (FLAIR) and diffusion weighted imaging (DWI) images showed periventricular white matter hyperintensities, abnormal signals on bilateral semi-oval centers (arrows). Global brain atrophy was noted. MRI was taken on 13th, June, 2019. (B) T1-weighted sagittal images showed that the corpus callosum is thinner than the last time (arrows). FLAIR images showed increased diffuse white matter lesions and the progression of global brain atrophy (arrows). DWI images revealed various isolated spots of hyperintense signals. MRI was taken on 08th, July, 2019. (C) Repeated MRI scans were taken on 10th, October, 2019. White arrows represent the brain lesions.
IJGM-13-1613-g0001.jpg
PMC7765750_01_IJGM-13-1613-g0001.jpg
f0001
Sagittal T2-weighted fluid-attenuated inversion recovery (FLAIR) images showed periventricular white matter hyperintensities and abnormal signals on the bilateral semi-oval centers (Figure 1A). Ventricular enlargement, thinning of the corpus callosum and global brain atrophy were also noted on MRI scans (Figure 1A). Multiple patchy abnormal signals, global brain atrophy and thinning of corpus callosum were evident in bilateral lateral ventricles on MRI scans (Figure 1B). Repeated MRI scans did not show any significant changes from the last time (Figure 1C).
Genetic test results of CSF1R-related leukoencephalopathy. (A) The CSF1R gene on chromosome 5 (exon 19) was c.2463G >C (p.W821C) with the missense mutation. The genetic code was mutated from GGA to GCA, leading to the changes of tryptophan number 821 to cysteine. The red arrow and red circle mean the base mutation site. (B) Results of insilico analysis for the W821C mutations by SIFT, Polyphen2, Mutation Taster and Mutation Assessor.
IJGM-13-1613-g0002.jpg
PMC7765750_01_IJGM-13-1613-g0002.jpg
f0002
Genetic testing results indicated that the CSF1R gene on chromosome 5 (exon 19) was reported as c.2463G >C (p.W821C) with a missense mutation (Figure 2A). The genetic code was mutated from GGA to GCA, leading to the changes of tryptophan number 821 to cysteine (Figure 2A). Taster) (Figure 2B). The predicted result using the Mutation Assessor is medium (Figure 2B and Supplementary Figure). The criterion is PM1 (the American College of Medical Genetics and Genomics, ACMG) since it is located at a mutational hot spot and/or critical and well-established functional domain.