PMC9751332_01
MR images of the patient. (A) MR images performed on the first attack (12 days after onset) showed high signal intensity in occipital-temporal-parietal lobe hyperextension on T2-weighted, fluid attenuation inversion recovery (FLAIR), and diffusion-weighted imaging (DWI). (B) MR images performed on the remission (27 days after the first onset) showed a high signal intensity of DWI, FLAIR, and T2WI of the left occipital-temporal-parietal lobe was reduced. The focus of the temporal lobe is enlarged (arrow). (C) MR images performed on the recurrence (68 days from the first onset) showed new high signal intensity in the right occipital-temporal-parietal lobe hyperextension on T2-weighted, FLAIR, and DWI.
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F1
The first magnetic resonance imaging (MRI) examination was performed 12 days after onset (7 January 2020) (Figure 1A), and diffusion-weighted imaging (DWI) showed a high signal intensity (Figures 1A, 3). DWI showed that the high signal intensity of the left occipital-temporal-parietal lobe was reduced (Figure 1B). DWI revealed a high signal intensity (Figure 1C), and ASL showed hyperperfusion in the right occipital-temporal-parietal focus areas (Figure 2E).
MR images of the patient. (A) MRA image of first onset period, 12 days after onset. MRA showed dilation of the left middle cerebral artery (long-tail arrow), with apparent dilation of superficial temporal arteries (long dotted arrow). (B) MRA image of remission period, 27 days after onset. MRA showed that the superficial temporal arteries were retracted. (C) MRA images of recurrence period, 68 days after onset. MRA showed that the left middle cerebral artery appeared normal, and the right middle cerebral artery was dilated. (D) ASL image of first onset period, 12 days after onset. ASL showed hyperperfusion in the left occipital-temporal-parietal focal areas. (E) ASL images of recurrence period, 68 days after onset. ASL showed hyperperfusion in the right occipital-temporal-parietal focal regions. (F) MRS image of first onset period, 12 days after onset. MRS showed a double inverted lactate peak at 1.33 ppm (short dotted arrow). (G) Genotypic detection analysis showed mitochondrial mutation (m.3243A >G).
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F2
Magnetic resonance angiography (MRA) showed dilation of the left middle cerebral artery, posterior cerebral artery, and bilateral superficial temporal arteries (Figure 2A). Arterial spin labeling (ASL) indicated hyperperfusion in the left occipital-temporal-parietal focal areas (Figure 2D). There was a double inverted lactate peak at 1.33 ppm detected by magnetic resonance spectroscopy (MRS) (Figure 2F). Next, 3 ml of peripheral venous blood from the patient was drawn for genotypic detection analysis, and the results indicated mitochondrial 3243A>G mutation (Figure 2G), which is a pathogenic mutation. In addition, MRA showed that the bilateral superficial temporal arteries were retracted (Figure 2B). DWI revealed a high signal intensity (Figure 1C), and ASL showed hyperperfusion in the right occipital-temporal-parietal focus areas (Figure 2E). In addition, according to MRA, the left middle cerebral artery was normal, whereas the right middle cerebral artery was dilated (Figure 2C).
Muscle biopsy. (A) MGT staining showed no ragged red fibers. Scale bars: 100 mum. (B) COX staining showed no significant decrease in myofibrillase activity. Scale bars: 100 mum. (C) SDH/COX double staining found one blue fiber. Scale bars: 100 mum. (D) Under the electron microscope, the basic arrangement of myofibrils was regular, the sarcolemma was shrunken, and no special ultrastructural and pathological changes were found. Scale bars: 5 mum.
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F3
The first magnetic resonance imaging (MRI) examination was performed 12 days after onset (7 January 2020) (Figure 1A), and diffusion-weighted imaging (DWI) showed a high signal intensity (Figures 1A, 3). The modified gomori trichrome (MGT) staining was negative (Figure 3). The succinate dehydrogenase (SDH)/c oxidase (COX) double staining showed a blue fiber, no positive result of blood vessel wall strength, and no obvious abnormality of muscle fiber under the electron microscope (Figure 3).