Adult-onset nemaline myopathy : A case report and review of the literature

摘要: Nemaline (rod) myopathy is a congenital muscle disease with wide spectrum of phenotypes, ranging from forms neonatal onset and fatal outcome to asymptomatic forms. An adult-onset variant characterized by large numbers rod-containing myofibers, numerous rods per affected myofiber, the absence specific structural abnormalities typical other diseases. Few cases fulfilling these criteria have been described in literature. Rare had an associated inflammatory component, majority occurred patients underlying immunologic disorder. We present unusual case immunologically competent 65-year-old man late-onset nemaline myopathy, who was previously diagnosed based on biopsy that contained chronic inflammation. His symptoms consisted 2-year history progressive proximal weakness; his family unremarkable. A neurologic examination confirmed presence bilateral weakness, normal sensation, decreased upper lower extremity reflexes. Creatine kinase levels were normal, electromyographic findings indicated myopathic process. modified trichrome stain right biceps revealed granular, basophilic, centrally located atrophic myofibers. Ultra-structurally, myofibers osmiophilic rectangular structures latticelike appearance myopathy. This illustrates although rare, should be considered differential diagnosis