Fukuhara N, Kumamoto T, Takasawa H, Tsubaki T, Origuchi Y
Acta Neuropathol. 1982;56(3):194-200. doi: 10.1007/BF00690635.
Histological, ultrastructural, and morphometric studies were performed on nerve and muscle biopsies from three patients with de Sanctis-Cacchione syndrome. Sural nerves showed marked loss of the myelinated fibers, in proportion to decrease in nerve conduction velocities and in inverse proportion to the severity of the clinical symptoms, which were related to the survival length. The larger fibers were involved earlier and more markedly than the smaller. The unmyelinated fibers were also decreased in number. Electron-microscopic studies showed the presence of primary degeneration of myelin sheaths or Schwann cells. Muscle biopsies showed grouping of type I and type II fibers in all three patients. Therefore, peripheral nerve involvement in de Sanctis-Cacchione syndrome was suggested to result from chronic degeneration of the neuronal cells and Schwann cells.
对三名患有德桑蒂斯 - 卡乔内综合征患者的神经和肌肉活检组织进行了组织学、超微结构和形态计量学研究。腓肠神经显示有髓纤维明显减少，与神经传导速度降低成比例，与临床症状的严重程度成反比，临床症状与存活时间相关。较大的纤维比较小的纤维更早且更明显地受到影响。无髓纤维数量也减少。电子显微镜研究显示存在髓鞘或施万细胞的原发性变性。肌肉活检显示所有三名患者的I型和II型纤维均呈群组化。因此，提示德桑蒂斯 - 卡乔内综合征中的周围神经受累是由神经元细胞和施万细胞的慢性变性所致。
