Intranuclear rod myopathy, a rare and morphologically striking variant of nemaline rod myopathy.
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.
Weeks
Douglas A
DA
Department of Pathology, Oregon Health and Science University, Portland, Oregon 97239, USA. weeksd@ohsu.edu
Nixon
Randal R
RR
Kaimaktchiev
Vassil
V
Mierau
Gary W
GW
D015415:Biomarkers / Q000032:analysis; D002467:Cell Nucleus / Q000648:ultrastructure*; D002675:Child, Preschool; D003460:Crystallization; D006801:Humans; D007124:Immunoenzyme Techniques; D045586:Intranuclear Inclusion Bodies / Q000648:ultrastructure*; D008297:Male; D018908:Muscle Weakness / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D017696:Myopathies, Nemaline / Q000150:complications / Q000378:metabolism / Q000473:pathology*
D015415:Biomarkers