case_images: PMC11380306_01
case_images: A patient with generalized early-onset myopathy. (A) Axial chest CT scans (performed at age 10 years for bacterial pneumonia) showing severe atrophy of shoulder girdle and back muscles. (B-D) Light microscopy of a muscle biopsy specimen revealing muscle fibre atrophy, endomysial fibrosis and presence of rimmed vacuoles. B: H&E; scale bar = 10mum. C: Gomori trichrome; scale bar = 8mum. D: Semithin section, paraphenylendiamine; scale bar = 30mum. (E & F) Electron microscopy of a muscle biopsy specimen showing subsarcolemmal accumulation of pleomorphic granular and membranous material indicative of abnormal autophagy (in E) and thin (arrows) and thick (arrowheads) tubulofilaments in degenerating muscle fibre nuclei (in F). E: Scale bar = 3.0mum. F: Scale bar = 1.5mum.
case_images: jnd-11-jnd240050-g001.jpg
case_images: PMC11380306_01_jnd-11-jnd240050-g001.jpg
case_images: jnd-11-jnd240050-g001
case_images: Between 3 and 5 years, she developed progressive generalized muscle weakness and atrophy affecting her extremities, limb girdle and trunk muscles (Fig. 1A) accompanied by worsening of gait instability, myopathic facies and difficulties chewing and swallowing. Rimmed vacuoles were observed in numerous fibres (Fig. 1B-D). Ultrastructural examination revealed autophagic vacuoles containing pleomorphic, often electron-dense membranous and granular material (Fig. 1E). Moreover, tubulofilamentous inclusions were identified, often near myonuclei (Fig. 1F).