Summary
A 26-year old male suffered from Abetalipoproteinemia (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.
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References
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This study was supported by the United States-Israel Binational Science Foundation
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Kott, E., Delpre, G., Kadish, U. et al. Abetalipoproteinemia (Bassen-Kornzweig syndrome). Acta Neuropathol 37, 255–258 (1977). https://doi.org/10.1007/BF00686887
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DOI: https://doi.org/10.1007/BF00686887