Kimura S, Miyake S
Department of Pediatrics, Yokohama City University School of Medicine, Japan.
Brain Dev. 1989;11(4):263-5. doi: 10.1016/s0387-7604(89)80048-8.
The repeated muscle biopsy findings in a female affected by hypocarnitinemia were reported. Electron microscopic (EM) examination revealed degeneration of Type II fibers as well as lipid accumulation in Type I fibers during an episode mimicking the Reye syndrome (mRS), and no morphological abnormality in the subclinical stage. There was no previous information on myolysis of Type II fibers in patients with carnitine deficiency (CD). However, this study showed that Type II fibers were more severely affected than Type I fibers during exacerbation in patient with CD.
报道了一名患有低肉碱血症女性的重复肌肉活检结果。电子显微镜(EM)检查显示,在一次类似瑞氏综合征(mRS)的发作期间,II型纤维发生变性,I型纤维出现脂质蓄积,而在亚临床阶段未发现形态学异常。此前尚无关于肉碱缺乏症(CD)患者II型纤维溶解的相关信息。然而,本研究表明,在CD患者病情加重期间,II型纤维比I型纤维受影响更严重。