Key result
Skeletal muscle biopsies and electron microscopy in a 4-year-old boy with muscle weakness revealed crystalline, alpha-actinin-positive inclusions exclusively in muscle cell nuclei.
Case Report (n=1)
This case illustrates the importance of electron microscopy in the diagnosis of rare myopathies and in the characterization of cellular inclusions of unknown origin.
EM may aid diagnosis of unexplained pediatric weakness; single case leaves open prevalence, etiology, and clinical course.
A 4-year-old boy with muscle weakness underwent skeletal muscle biopsies. Light microscopy showed distinct eosinophilic inclusions within the majority of muscle cell nuclei, but none in the cytoplasm. Electron microscopy revealed crystalline, round to rod-shaped inclusions in the muscle cell nuclei. The inclusions stained positively for alpha-actinin. Intranuclear inclusions identical to those seen here have been described in rare cases of nemaline rod myopathy, though almost always together with classic intracytoplasmic rods. This case illustrates the importance of electron microscopy in the diagnosis of rare myopathies and in the characterization of cellular inclusions of unknown origin.
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Weeks et al. (2003) conducted a case report in Intranuclear rod myopathy (n=1). Skeletal muscle biopsy and electron microscopy was evaluated on Characterization of cellular inclusions. Skeletal muscle biopsies and electron microscopy in a 4-year-old boy with muscle weakness revealed crystalline, alpha-actinin-positive inclusions exclusively in muscle cell nuclei.
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