Werdnig-Hoffmann disease: proposal of a pathogenetic mechanism.

Light and electron microscopic study and morphometric analysis were performed on the spinal cords and roots from six cases of acute Werdnig-Hoffmann disease and four control cases, in search of the pathogenesis of the selective motor neuron changes considered primarily responsible for Werdnig-Hoffman disease. This investigation posits a centrifugal traction mechanism based upon the discovery of cylindrical outgrowths of glial bundles, selective loss of large myelinated fibers, and axonal degeneration in the proximal portion of anterior spinal roots (and to a lesser extent in posterior spinal roots) in all six disease cases. This traction mechanism exerts principally upon anterior spinal nerve roots and can account for morphologic and morphometric data characteristically ascribed to Werdnig-Hoffmann disease.