PMC7674586_01
Left vastus lateralis biopsy histological images showing (A) marked variability in muscle fiber size, increased interstitial connective tissue, and several inflammatory infiltrates (H&E stain), (B) widespread sarcolemmal upregulation of MHC-1 (immunohistochemical stain), (C) p62-positive aggregates in vacuolated muscle fibers (immunohistochemical stain), (D) rimmed vacuoles (Gomori trichrome stain), (E) increased ragged red fibers (Gomori trichrome stain), and (F) increased numbers of cytochrome oxidase-negative muscle fibers for age (COX-SDH double stain).
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F1
MHC-1, p62-positive inclusions, rimmed vacuoles, increased ragged red fibers, and increased numbers of cytochrome oxidase-negative muscle fibers for age (Figure 1). Magnetic resonance imaging (MRI) of the bilateral thighs revealed significant short-T1 inversion recovery (STIR) signal changes and loss of muscle volume affecting the pelvic and thigh muscles (with the quadriceps muscles most severely affected, more so on the left) consistent with myositis and muscle atrophy.
Patient timeline.
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F2
Our patient's health and neurological status were regularly monitored by a neurologist during the diet intervention, which consisted of a modified ketogenic diet (60% fat, 30% protein, 5% fiber, and 5% net carbohydrate by weight, comprised of green vegetables, meats, eggs, nuts, seeds, creams, and natural oils) (Figure 2).
MRI (axial views) of the bilateral thighs showing thigh muscle (A) STIR signal changes (left adductor longus shown by green arrow) and (B) T1 muscle surface areas (outlined in green, only axial plane 3 of 5 is shown) at 1 year prior to starting the ketogenic diet and at baseline, 6 months, and 1 year after starting the diet.
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F3
A treatment-blinded radiologist analyzed serial MRI scans of the bilateral thighs so as to assess the degree of muscle inflammation and volume loss (Figure 3).