Hirata K, Yoshioka F, Eto Y, Suzuki K, Yokochi K, Kato H, Ohta K, Terasawa M
J Cardiogr. 1986 Mar;16(1):217-25.
This is a report of two brothers, six and five years of age, with systemic carnitine deficiency and cardiomyopathy, whose symptoms were improved after oral administrations of DL-carnitine. They had had progressive muscle weakness since three years of age. The elder brother's radiograph on admission showed cardiomegaly with a cardiothoracic ratio of 60%, and his electrocardiogram showed left ventricular hypertrophy and tall, peaked T waves in the precordial leads. The echocardiogram showed slight thickening of the cardiac muscle and decreased ejection fraction. Skeletal muscle biopsy specimens and sera were assessed for carnitine content. The skeletal muscle specimens revealed lipid storage myopathy, and the carnitine contents of the skeletal muscle and sera were both decreased. Myocardial biopsy for the elder brother revealed mitochondrial accumulation. Cardiomyopathy caused by carnitine deficiency is often fatal, but may be cured. Carnitine deficiency should be considered whenever a patient with cardiomegaly and progressive skeletal muscle weakness is encountered.
本文报告了两名分别为6岁和5岁的兄弟，他们患有全身性肉碱缺乏症和心肌病，口服DL-肉碱后症状有所改善。他们从3岁起就出现进行性肌肉无力。哥哥入院时的X光片显示心脏增大，心胸比率为60%，其心电图显示左心室肥厚，胸前导联T波高耸、尖峰。超声心动图显示心肌轻度增厚，射血分数降低。对骨骼肌活检标本和血清进行了肉碱含量评估。骨骼肌标本显示脂质贮积性肌病，骨骼肌和血清中的肉碱含量均降低。哥哥的心肌活检显示线粒体堆积。肉碱缺乏引起的心肌病通常是致命的，但也可能治愈。当遇到心脏增大且有进行性骨骼肌无力的患者时，应考虑肉碱缺乏症。
