PMC9168224_01
Brain MRI scans of this patient, performed at age of 16 years during the interictal period. (A) Axial T1 image revealed several hypointense lesions of the centrum semiovale and white matter of the bilateral frontoparietal temporal lobe. (B) Axial T2 image revealed several hyperintense lesions at the same locations (arrows). (C) The axial diffusion-weighted imaging (DWI) image appeared normal. (D) Sagittal T1 image demonstrated slightly cerebellum atrophy.
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F1
T2 hyperintensity (Figure 1B), and normal in diffusion-weighted imaging (DWI) sequence (Figure 1C). The cerebellum was slightly atrophic (Figure 1D). There was no obvious change in the MRI findings compared with 1 year ago.
Sanger sequencing of the patient and her healthy parents. No mutation was detected in the parents at the same locus of the patient's pathogenic variant.
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F2
Further validation of Sanger sequencing for her healthy parents revealed no mutant at the same locus, indicating the identified mutation de novo (Figure 2).
Timeline of the clinical course.
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F3
The timeline of the clinical course is presented in Figure 3.