The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations.
The light and electron microscopic myopathology in five patients with congenital generalized lipodystrophy consist of variation in fiber size, ringbenden, various degrees of fiber degeneration and fragmentation, accumulation of glycogen, aggregation of mitochondria. streaming of Z line, myofilamentous inclusions and dilatation of sarcoplasmic reticulum profiles. The light microscopic myopathology in the five patients is compared with the few available observations in the literature. No reports of electron microscopy of muscle in this syndrome are available in the literature. No reports of electron microscopy of muscle in this syndrome are available in the literature. It is concluded that the myopathologic features are nonspecific in nature and may be secondary to the diencephalic disturbance which is known to occur in this syndrome.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007866:Leg; D008060:Lipodystrophy / Q000151:congenital / Q000473:pathology*; D008297:Male; D009132:Muscles / Q000473:pathology* / Q000648:ultrastructure