无β脂蛋白血症（巴森-科兹韦格综合征）。肌肉受累。
Abetalipoproteinemia (Bassen-Kornzweig syndrome). Muscle involvement.
作者信息
Kott E, Delpre G, Kadish U, Dziatelovsky M, Sandbank U
出版信息
Acta Neuropathol. 1977 Mar 31;37(3):255-8. doi: 10.1007/BF00686887.
PMID:855647
Abstract
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.
摘要
一名26岁男性患有无β脂蛋白血症（巴森-科尔兹韦格病）。除中枢神经系统病变外，他还患有肌病。肌肉活检显示横纹肌中有类蜡样色素沉积。少数肌纤维显示肌原纤维严重变性。间质组织中的成纤维细胞和巨噬细胞含有丰富的类蜡样色素。文中讨论了类蜡样色素沉积、无β脂蛋白血症与维生素E缺乏之间的关系。
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