Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement.
A 26-year old male suffered from Abeta-lipoproteinemia (Bassen-Kornzweig disease). In addition to C.N.S. lesions, he had myopathy. A muscle biopsy revealed accumulation of ceroid pigment in the striated muscle. A few muscle fibers showed severe degeneration of the myofibrils. Fibroblasts and macrophages in the interstitial tissue contained abundant ceroid. The relation between ceroid accumulation, abetalipoproteinemia and vitamin E-deficiency is discussed.
D000012:Abetalipoproteinemia / Q000378:metabolism / Q000473:pathology*; D000328:Adult; D002566:Ceroid / Q000032:analysis; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009132:Muscles / Q000032:analysis / Q000648:ultrastructure*; D014808:Vitamin D Deficiency / Q000473:pathology
D002566:Ceroid