PMC10413980_01
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.
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F2
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).
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).
fped-11-1212405-g003.jpg
PMC10413980_01_fped-11-1212405-g003.jpg
F3
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).
PMC10413980_02