case_images: PMC11377977_01
case_images: Left image: Photograph showing winged scapula due to shoulder-girdle muscular atrophy, right: muscle sonography, hyperechogenic signal in the deltoid muscle on the right side (m. delt re: right deltoid muscle; hum: humerus bone).
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case_images: The clinical, sonographic, and pathological findings are shown in Figures 1 and 2.
case_images: Biopsy of the deltoid muscle, showing non-specific myopathic feature with increased variation of fiber size including small fibers (asterisk), basophilic regenerative fibers (arrows), intracytoplasmic nuclei (a). Immunohistochemistry: HLA-1 (arrow, b) and the membrane attack complex (C5b-9) (arrow, c) is upregulated in few fibers (arrow), and some fibers show decreased laminin (LAM-89) expression (asterisks, d). Scale bars: 250 mum.
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case_images: PMC11377977_01_j_med-2024-1033-fig002.jpg
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case_images: The clinical, sonographic, and pathological findings are shown in Figures 1 and 2. There was increased variation in muscle fiber size and mildly elevated number in internalized nuclei, occasional necrotic and basophilic regenerative as well as small-elongated atrophic fibers without grouping, split fibers, and an absence of inflammatory cell infiltrates (Figure 2a). In few abnormal fibers, sarcolemmal upregulation of MHC-1 (Figure 2b) and of membrane attack complex (C5b-9) (Figure 2c) was noted. The expressions of sarcolemmal and sarcolemma-associated proteins were normal, except for lower expression of laminin with antibody LAM-89 in few fibers (Figure 2d).
case_images: Timeline of the patient's milestones, CK: creatine kinase; AST: aspartate transferase; ALT: alanine transferase; ENMG: electroneuromyography; HMGCR: 3-hydroxy-3-methylglutaryl coenzyme A reductase.
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case_images: Figure 3 summarizes the clinical timeline.