PMC5771368_01
PMC5771368_02
H&E staining: atrophy, some necrotic and regenerative fibers are noted. Endomysial connective tissue is severely increased
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F1
A biopsy taken in 2011 revealed dystrophic changes (degeneration/ regeneration) with markedly increased endomysial connective tissue; no inflammatory cell infiltration, ragged red fiber, cytoplasmic body and lipid or glycogen accumulation in muscle fibers were seen (fig.1).
Immunohistochemistry (IHC) shows staining with anti-dystrophin, dysferlin, merosin, and sarcoglycan
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F2
An immunohistochemistry (IHC) study of sarcolemmal proteins showed sarcolemma labeling of all fibers with DYS1, DYS2, DYS3, alpha and gamma sarcoglycan, dysferlin, merosin, and beta-spectrin (fig.2). 
a) Sagittal T2 MRI, multiple hyperintense lesions involving periventricular white matter thalamus and cerebellum; b) Sagittal T1-weighted MRI showed enhancement of one periventricular lesion; c) and d) Axial T2 and FLAIR MRI, respectively; demonstrating multiple periventricular, centrum semioval, and juxtacortical lesions
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F3
For further evaluation, we planned a brain and optic pathway MRI that excluded compressive lesions of the optic pathway and disclosed multiple periventricular, centrum semiovale, corpus callosum, juxta cortical, and infra tentorial (brain stem and cerebellum) T2 hypersignal demyelinating plaques with multiple lesion enhancement (fig 3) that fulfilled the McDonald criteria for MS.