PMC9817156_01
Neuroimages (A-G) and skeletal muscle biopsy (H-K) of this patient. (A) Craniocerebral CT showed high-density signal on the left side of the tentorial cerebellum, indicating subdural hematoma. Patchy abnormal signals are seen on the left tentorium of the cerebellum. (B) High intensity in T1 scan. (C) Slightly high intensity on T2 scan. (D) Significantly - high intensity on FLAIR scan). Symmetrical patchy abnormal signals could be found in bilateral lentiform nucleus, caudate nucleus head, and ventrolateral nucleus. (E) Low signal intensity in T1 scans. (F) Slight-higher signal intensity in T2 scans. (G) Obvious-high signal intensity in FLAIR scans. (H) HE findings of the skeletal muscle biopsy (right biceps muscle) revealed that the diameter of muscle fibers varied greatly; Atrophic muscle fibers were scattered in round and small circles together with large number of necrotic and regenerated muscle fibers (black arrow; 40x magnification). (I) NADH staining revealed uneven enzyme activity in some muscle fibers and dense staining around the muscle fibers (black arrow, 40x magnification). (J) SDH staining revealed SSV and several black arrow (black arrow; 40x magnification). (K) COX staining revealed negative-stained muscle fibers (black arrow; 40x magnification). HE, Hematoxylin-eosin; NADH, Nicotinamide adenine dinucleotide; CT, Computed tomography; FLAIR, Fluid attenuated inversion recovery.
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F1
Brain magnetic resonance imaging (MRI) indicated symmetrical abnormal signals in bilateral basal ganglia, suggesting metabolic disease (Figure 1). Head computed tomography (CT) showed symmetrical low densities and changes on the left side of the tentorial cerebellum (Figure 1), suggesting an SDH. The timeline of the aggravation and detailed treatment of symptoms is shown in Figure 1.
The progress of disease and the timeslot for the medical intervention. The patient got worsen on the 5th day during the hospitalization and then recovered slightly. Dark arrows represented the drug treatment. On the 10th day, the clinical exon sequencing (CES) showed one heterozygous missense mutation and one heterozygous frameshift mutation were detected by CES. M1, missense mutation; C.683C > T: P. Pro228Leu. M2, frameshift mutation; C.838-839insC: P. Leu280fsTer11. The results of Sanger sequencing revealed that the M1 mutations was inherited from her father, and M2 mutations from her mother. The patient was discharged on the 20th day without improving significantly.
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F2
Muscle pathological examination revealed myopathy-like changes (Figure 2) that anti-oxidative treatment, a restricted protein diet, and supplementation of coenzyme therapy did not improve. Muscle pathological examination showed myopathy-like changes (Figure 2). The results of Sanger sequencing confirmed that the mutations M1 and M2 were inherited from the mother and father, respectively (Figure 2).