The myopahtology of congenital generalized lipodystrophy light and electron microscopic observations
Afifi, A.K.; Mire-Salman, J.; Najjar, S.
Johns Hopkins Medical Journal 139(Suppl): 61-68
1976
ISSN/ISBN: 0021-7263 PMID: 1011408 Document Number: 98272
The light microscopic and EM myopathology in 5 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 5 patients was compared with the few available observations in the literature. No reports of EM of muscle in this syndrome were available in the literature. The myopathologic features were nonspecific in nature and were secondary to the diencephalic disturbance.