case_images: PMC10751346_01
case_images: Brain Magnetic Resonance revealed bilateral fronto-parietal atrophy; coronal (A) and axial (B) FLAIR-T2-weighted sequences displayed hyperintensity of the cortico-spinal tracts (arrows).
case_images: fgene-14-1322067-g001.jpg
case_images: PMC10751346_01_fgene-14-1322067-g001.jpg
case_images: F1
case_images: His audiometry revealed an auditory loss especially for high frequencies, consistent with a sensorineural deafness (Supplementary Figure S1). FLAIR-T2-weighted sequence displayed hyperintensity of the cortico-spinal tracts (Figures 1A, B).
case_images: Hematoxilin Eosin staining (A) showed neurogenic changes with small groups of atrophic fibers (arrows). Cytochrome C Oxidase/Succinate dehydrogenase double staining (B) showed a few fibers displaying subsarcolemmal enhancement (head of arrow) and a single COX negative fiber (arrow).
case_images: fgene-14-1322067-g002.jpg
case_images: PMC10751346_01_fgene-14-1322067-g002.jpg
case_images: F2
case_images: The tibialis anterior muscle biopsy confirmed the presence of neurogenic changes with small groups of atrophic fibers (Figure 2A). Cytochrome C Oxidase/Succinate dehydrogenase double staining (Figure 2B) showed a few fibers displaying subsarcolemmal enhancement and a single COX negative fiber, both still consistent with secondary and possibly age-dependent abnormalities and not configuring a mitochondrial myopathy by themselves.