PMC9414032_01
Brain imaging. (A-E) Axial diffusion-weighted of brain MRI on Diffusion-Weighted Imaging shows water restriction in the left occipital lobes, related to the first stroke-like episode, and (F-J) in the right temporal occipital lobe, related to the second stroke-like episode. (K,L) Brain Magnetic Resonance Spectroscopy shows abnormal lactate metabolism, at 1.3 ppm. (M-O) Brain Magnetic Resonance Venography shows no abnormality in the dural sinuses.
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F1
MRI showed a lesion in the left occipital lobe (Figures 1A-E) and she was diagnosed with ischemic stroke but recovered without sequelae. MMSE and MOCA could not be completed at the time of the patient's onset, and the patient's MMSE score was 30 points and MOCA score was 30 points before discharge. She demonstrated bilateral ptosis and her speech was dysarthric (Supplementary Figure 1). However, a brain MRI revealed a large diffusion weighted water restriction lesion in the right temporo-occipital lobe (Figures 1F-J). A 1H-magnetic resonance spectroscopy (MRS) revealed abnormal lactate concentrations in the parietal lobe lesion (Figures 1K,L). The results of this were normal (Figures 1M-O).
Biopsy specimen. (A) ragged red fibers (MGT staining); (B) COX-negative and SDH-positive fibers in blue (COX/SDH double staining) (bar = 20mum).
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F2
The analysis showed ragged red fibers (Figure 2A), and SDH-positive fibers and gave a COX-negative result (Figure 2B).
The gene mutations. (A,B) Sanger sequencing for m.3243A>G and c.3560C>T mutations.
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F3
TL1 m.3243A>G and POLG c.3560C>T were identified in our patient (Figures 3A,B).