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  • Title: The peripheral neuropathy in De Sanctis-Cacchione syndrome. Histological, ultrastructural, and morphometric studies.
    Author: Fukuhara N, Kumamoto T, Takasawa H, Tsubaki T, Origuchi Y.
    Journal: Acta Neuropathol; 1982; 56(3):194-200. PubMed ID: 6280438.
    Abstract:
    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.
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