Lipid storage myopathy associated with scoliosis and multiple joint contractures.
Two patients with cleft palate, clubfoot, congenital scoliosis, and arthrogryposis multiplex congenita showed increased numbers of lipid droplets in biopsied muscle fibers. There was little abnormality in the mitochondrial morphology of the muscle and the results of blood chemistry including carnitine concentrations. Accumulation of large lipid droplets, increased amount of glycogen and a decreased number of mitochondria were observed in chondrocytes from the biopsied iliac crest cartilage of these patients. It was suggested that the present cases might belong to a previously unknown clinico-pathological entity of myopathies.
D001176:Arthrogryposis / Q000150:complications; D001706:Biopsy; D002648:Child; D002972:Cleft Palate / Q000150:complications; D003025:Clubfoot / Q000150:complications; D003286:Contracture / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D008931:Mitochondria, Muscle / Q000648:ultrastructure; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000150:complications* / Q000473:pathology; D012600:Scoliosis / Q000150:complications*