Verrips A, van Engelen B G, ter Laak H, Gabreëls-Festen A, Janssen A, Zwarts M, Wevers R A, Gabreëls F J
Departments of Paediatric Neurology, University Hospital Nijmegen, PO Box 9101, 6500 HB, The, Nijmegen, Netherlands.
Neuromuscul Disord. 2000 Aug;10(6):407-14. doi: 10.1016/s0960-8966(00)00112-7.
Neuromuscular characteristics were documented in ten patients with biochemically and genetically confirmed cerebrotendinous xanthomatosis. An array of genotypes was found in these patients. Only one patient complained of muscle weakness, while clinical signs of peripheral neuropathy were present in six patients. Electromyogram showed predominantly axonal neuropathy in seven patients. Neurogenic changes were seen in muscle biopsies of nine patients. Sural nerve biopsies of three patients showed features of axonal neuropathy. In addition, in one patient, extensive onion bulb formation was seen, which is indicative of a primarily demyelinating process. Five patients had normal mitochondrial respiratory chain enzyme activity. It is concluded that myopathy is not a feature of cerebrotendinous xanthomatosis and that the most prominent neuromuscular abnormality is sensorimotor axonal polyneuropathy.
对10例经生化和基因确诊的脑腱黄瘤病患者的神经肌肉特征进行了记录。在这些患者中发现了一系列基因型。只有1例患者主诉肌肉无力，而6例患者存在周围神经病变的临床体征。肌电图显示7例患者主要为轴索性神经病变。9例患者的肌肉活检可见神经源性改变。3例患者的腓肠神经活检显示轴索性神经病变的特征。此外，1例患者可见广泛的洋葱球样结构形成，这表明主要是脱髓鞘过程。5例患者的线粒体呼吸链酶活性正常。结论是肌病不是脑腱黄瘤病的特征，最突出的神经肌肉异常是感觉运动性轴索性多发性神经病变。
