case_images: PMC8281295_01
case_images: Neuroradiological features. Brain MRI showed bilateral, symmetric signal abnormalities in the basal ganglia, and brain stem (A-C: T2-weighted images).
case_images: fped-09-700898-g0001.jpg
case_images: PMC8281295_01_fped-09-700898-g0001.jpg
case_images: F1
case_images: Brain MRI showed bilateral and symmetrical signal abnormalities in the thalami and midbrain (Figure 1).
case_images: Sequencegrams. m.13513G>A was identified in the DNA of the patient (A). The mutation was not found in DNA samples derived from his mother (B).
case_images: fped-09-700898-g0002.jpg
case_images: PMC8281295_01_fped-09-700898-g0002.jpg
case_images: F2
case_images: DNA sequence analysis revealed that the patient had a G-to-A transition at mitochondrial DNA nt 13513 in blood specimens, resulting in an amino acid change of Asp to Asn in the mitochondrial ND5 gene by LR-PCR and next-generation sequencing (NGS, Figure 2).