case_images: PMC10413980_01
case_images: Cranial magnetic resonance imaging of the patient. (A) There was a wide range of long T1 signals in the bilateral frontotemporal parietal lobes. The lesions on both sides are roughly symmetrical. (B) The bilateral frontotemporal parietal lobes had a wide range of long T2 signals. The lesions on both sides are roughly symmetrical. (C) Short T1 signals can be seen in the bilateral pallidum.
case_images: fped-11-1212405-g002.jpg
case_images: PMC10413980_01_fped-11-1212405-g002.jpg
case_images: F2
case_images: However, cranial magnetic resonance imaging showed a wide range of long T1 and T2 signals in the bilateral frontotemporal parietal lobes, short T1 signals in the bilateral pallidum (Figure 2).
case_images: Family pedigree and GSS variants confirmed by sanger sequencing. The patient (II-2) had compound heterozygous variants, c.491G > A (p.?) and c.1343_1348delTACTTC (p.L448_L449del), which were inherited from her mother (I-2) and father (I-1), respectively. Her brother (II-1) had the c.491G > A (p.?) variant, which was inherited from his mother (I-2).
case_images: fped-11-1212405-g003.jpg
case_images: PMC10413980_01_fped-11-1212405-g003.jpg
case_images: F3
case_images: Sanger sequencing confirmed that the c.491G > A (p.?) and c.1343_1348delTACTTC (p.L448_L449del) variants were inherited from the mother and father, respectively (Figure 3).
case_images: PMC10413980_02