case_images: PMC11817157_01
case_images: Pedigree and genetic analysis: (A) Pedigree of the family. Asterisks indicate the DNA available. (B) Heteroplasmy evaluation of the m.15635C>T variant, by NGS approach, in all tissues and family members available. (C) Graphical timeline showing the evolution of the symptoms as they appeared throughout the patient's life.
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case_images: Figure 1A). Figure 1C shows a graphical timeline highlighting the evolution of the symptoms as they appeared throughout the patient's life.
case_images: Clinical data of the proband: (A) Optical coherence tomography (OCT). The fundus photography images of the patient's eyes display a moderate swelling of the optic disc fibers (asterisks) without cup and the presence of peripapillary microangiopathy (arrows) (top panel); structural OCT performed in the macular area confirmed a thinning of the GC-IPL in the central area around the fovea (bottom panel); GC-IPL: ganglion cell inner plexiform layers. (B,C) Muscle biopsy from the proband: histoenzymatic staining for both COX and SDH activities revealed increased subsarcolemmal staining (arrows), indicative of a moderate increase in mitochondrial mass, which is usually a compensatory feature. No COX-deficient or ragged red fibers were observed. (D-G) Brain MRI: bilateral striatal necrosis (arrows) (D,E), severe cerebellar atrophy and mild brainstem atrophy with consensual 4th ventricle dilation are evident (asterisk) (F,G).
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case_images: Neuro-ophthalmologic examination showed moderate swelling of the retinal fibers at the optic nerve head and some tortuosity of the peripapillary vessels on fundus picture, whereas optical coherence tomography (OCT) documented loss of retinal ganglion cells in the macula (Figure 2A). Muscle biopsy performed at 23 years of age showed only some subsarcolemmal increase in cytochrome c oxidase (COX) and succinate dehydrogenase (SDH) staining, indicative of moderate proliferation of the mitochondrial mass (Figure 2B,C). Brain MRI confirmed the presence of bilateral striatal necrosis and severe cerebellar and mild brainstem atrophy (Figure 2D-G).