Nemaline myopathy and cardiomyopathy.
A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported.
D042964:Acyl-CoA Dehydrogenase; D001706:Biopsy; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D002331:Carnitine / Q000097:blood / Q000172:deficiency / Q000627:therapeutic use / Q000652:urine; D002675:Child, Preschool; D018752:Diet, Fat-Restricted; D044943:Fatty Acid Desaturases / Q000172:deficiency*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017240:Mitochondrial Myopathies / Q000150:complications*; D018482:Muscle, Skeletal / Q000473:pathology; D017696:Myopathies, Nemaline / Q000150:complications* / Q000178:diet therapy / Q000188:drug therapy; D011596:Psychomotor Disorders / Q000209:etiology; D012127:Respiratory Distress Syndrome, Newborn / Q000209:etiology; D016896:Treatment Outcome; D014280:Triglycerides / Q000627:therapeutic use