PMC9094363_01
(A-G) show the MRI by a decreased signal on the T1 sequence and increased signal intensity on the T2/FLAIR sequance showed a of the bilateral basal, certain ovale, frontal lobe, and parietal lobe, and F shows increased signal on the T2 sequence showed a of ganglia cervical cord.
fgene-13-845967-g001.jpg
PMC9094363_01_fgene-13-845967-g001.jpg
F1
Multifocal lesions were detected on MRI by a decreased signal on the T1 sequence, increased signal intensity on the T2/FLAIR, and diffusion-weighted imaging (DWI) sequence showed a of the bilateral basal, centrum ovale, frontal lobe, and parietal lobe, and increased signal on the T2 sequence showed a of ganglia cervical cord (Figure 1).
The genetic mutation and genetic lineage map.
fgene-13-845967-g002.jpg
PMC9094363_01_fgene-13-845967-g002.jpg
F2
The mother of proband has no obvious clinical symptoms at present, but it couldn not rule out the possibility she has no clinical symptoms in the future. (Figure 2).