Kuntzer T, Robert D, Cox J, Meier C, Schwartz A, Guelpa G, Pfister C E
Service de médecine, Hôpital de la Providence, Neuchâtel.
Schweiz Med Wochenschr. 1987 Dec 12;117(50):2027-9.
A case is reported of lipid storage myopathy in a 24-year-old patient and her family. In the patient and an aunt, muscle biopsy disclosed intrafibrillar lipid depositions, and electron microscopy revealed lipid vesicles in the sarcolemma border. In the father, no lipid depositions were observed but electron microscopy showed alterations to mitochondria compatible with a mitochondrial myopathy. In the patient muscular biochemistry revealed a major reduction in NADH oxydase activity and in the aunt a diminished level of carnitin compatible with carnitin deficiency. The heterogeneity of these lipidic myopathies is discussed.
报道了一例24岁患者及其家族中的脂质贮积性肌病。在该患者及其一位阿姨身上，肌肉活检发现肌原纤维内有脂质沉积，电子显微镜检查显示肌膜边缘有脂质小泡。在患者父亲身上，未观察到脂质沉积，但电子显微镜检查显示线粒体有改变，符合线粒体肌病。在患者身上，肌肉生物化学检查显示NADH氧化酶活性大幅降低，在阿姨身上，肉碱水平降低，符合肉碱缺乏症。讨论了这些脂质肌病的异质性。
