PMC8257052_01
Brain MRI/MRS from patient 1 (A-C) and patient 2 (D-F). (A) Axial FLAIR sequence at the level of the lateral ventricle and centrum semiovale at 4 years of age showing bilateral symmetric areas of amorphous hyperintensity (curved arrows) within the periventricular white matter. Notice the hyperintensity is seen extending up to the ventricular margin (arrowhead). (B) Apparent diffusion coefficient map of the brain through the lateral ventricles showing areas of hyperintensity suggestive of facilitated diffusion (absent diffusion restriction/curved arrows). (C) Single-voxel MRI spectroscopy with the voxel placed over the white matter showed slightly elevated lipid peak (arrow). (D-F) Axial FLAIR and axial T2 images through the centrum semiovale and ventricles performed at 1, 2, and 4 years of age, respectively. Arrows indicate bilateral periventricular white matter thinning and hyperintensity, predominantly in the periatrial region.
fgene-12-692087-g0001.jpg
PMC8257052_03_fgene-12-692087-g0001.jpg
F1
T2 signal in the periatrial white matter, mild ventricular dilation, and anterior thinning of the corpus callosum (Figures 1D-F). MRS showed a slight decrease in NAA. The patient had a quadriceps muscle biopsy at 4 years 10 months of age, which showed occasional atrophic-appearing type I myofibers (Figure 2A) and occasional neural cell adhesion molecule (NCAM)-positive muscle fibers (Figure 2B).
PMC8257052_02
PMC8257052_03
Brain MRI/MRS from patient 1 (A-C) and patient 2 (D-F). (A) Axial FLAIR sequence at the level of the lateral ventricle and centrum semiovale at 4 years of age showing bilateral symmetric areas of amorphous hyperintensity (curved arrows) within the periventricular white matter. Notice the hyperintensity is seen extending up to the ventricular margin (arrowhead). (B) Apparent diffusion coefficient map of the brain through the lateral ventricles showing areas of hyperintensity suggestive of facilitated diffusion (absent diffusion restriction/curved arrows). (C) Single-voxel MRI spectroscopy with the voxel placed over the white matter showed slightly elevated lipid peak (arrow). (D-F) Axial FLAIR and axial T2 images through the centrum semiovale and ventricles performed at 1, 2, and 4 years of age, respectively. Arrows indicate bilateral periventricular white matter thinning and hyperintensity, predominantly in the periatrial region.
fgene-12-692087-g0001.jpg
PMC8257052_03_fgene-12-692087-g0001.jpg
F1
T2 signal in the periatrial white matter, mild ventricular dilation, and anterior thinning of the corpus callosum (Figures 1D-F). MRS showed a slight decrease in NAA. The patient had a quadriceps muscle biopsy at 4 years 10 months of age, which showed occasional atrophic-appearing type I myofibers (Figure 2A) and occasional neural cell adhesion molecule (NCAM)-positive muscle fibers (Figure 2B).
Patient 2 muscle biopsy. ATPase reaction at pH 4.3 shows a few, but not all, type 1 myofibers to be atrophic (arrows) without angulated contours. Neural cell adhesion molecule (NCAM) is weakly positive in a rare myofiber (chevron) without evidence of myopathic or neurogenic changes.
fgene-12-692087-g0002.jpg
PMC8257052_03_fgene-12-692087-g0002.jpg
F2
T2 signal in the periatrial white matter, mild ventricular dilation, and anterior thinning of the corpus callosum (Figures 1D-F). MRS showed a slight decrease in NAA. The patient had a quadriceps muscle biopsy at 4 years 10 months of age, which showed occasional atrophic-appearing type I myofibers (Figure 2A) and occasional neural cell adhesion molecule (NCAM)-positive muscle fibers (Figure 2B).