case_images: PMC10484216_01
case_images: Cranial CT of the patient. On the day of the episode, cranial CT showed low density in the right temporo-parietal lobe and symmetric calcification in bilateral basal ganglia areas.
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case_images: PMC10484216_01_fneur-14-1239664-g0001.jpg
case_images: F1
case_images: Cranial CT (Figure 1) showed low density in the right temporo-parietal lobe and symmetric calcification in bilateral basal ganglia areas.
case_images: Muscle biopsy. (A) HE staining showed a mild hyperplasia of connective tissue of muscle bundles. Scale bars: 50 mum. (B) MGT staining showed ragged red fibers. Scale bars: 50 mum. (C) ATPase 10.2 staining showed the two muscle fibers were basically in a mosaic distribution. Scale bars: 50 mum. (D) SDH staining showed some muscle fibers were deeply stained or had deeply stained edges. Scale bars: 50 mum.
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case_images: F2
case_images: Muscle biopsy showed myogenic damage, and the modified Gomori trichrome (MGT) staining showed ragged red fibers (RRF) (Figure 2).
case_images: MR images of the patient. (A) DWI image of the onset period. DWI showed a hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area. (B) DWI image of the onset period, 3 days after onset. MRI showed brain parenchymal swelling in the right temporoparieto-occipital lobe, abnormal signals of FLAIR, and T2WI of the right temporoparieto-occipital cortex and subcortical and right thalamus. (C) DWI image of the onset period, 13 days after onset. DWI showed the hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area had disappeared.
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case_images: F3
case_images: Brain diffusion-weighted imaging (DWI) revealed a hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area (Figure 3). After 13 days of treatment, the acidosis was corrected, lactic acid was reduced to 2.74 mmol/L, and brain DWI showed the hypertensive signal in the right temporo-parietal-occipital cortex and subcortical area disappeared (Figure 3B).
case_images: MR images of the patient. (A) ASL images of the onset period, 3 days after onset. ASL showed hyperperfusion in the right temporoparieto-occipital lesion area compared to the contralateral side. (B) MRS image of the onset period, 3 days after onset. MRS image showed decreased N-acetyl aspartate (NAA) peak and increased lactate peak, and there was a double inverted lactate peak at 1.31.ppm (blue arrow).
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case_images: PMC10484216_01_fneur-14-1239664-g0004.jpg
case_images: F4
case_images: Brain magnetic resonance spectroscopy (MRS) showed decreased N-acetyl aspartate (NAA) peak and increased lactate peak, and there was a double inverted lactate peak at 1.31 (Figure 4). Arterial spin labeling (ASL) indicated hyperperfusion in the right temporoparieto-occipital lesion area compared to the contralateral side (Figure 4).
case_images: Gene mutations. Sanger sequencing for m.3243A>G mutations, and the level of heterogeneity was ~53.73% in her peripheral blood.
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case_images: PMC10484216_01_fneur-14-1239664-g0005.jpg
case_images: F5
case_images: A genetic study revealed a mitochondrial DNA A3243G mutation, and the level of heteroplasmy was ~53.73% in her peripheral blood (Figure 5).