[Schwann cell pathology and axonal reduction in a case of congenital neuropathy with hypomyelinization]

A case of congenital dysmyelinating neuropathy is reported, in which computerised morphological analysis showed a prominent loss of fibers with large axons, in addition to overall thinness of myelin sheath. Ultrastructural examination showed aberrant formation of basal lamina and abnormal ensheathment by Schwann cells of both myelinated and unmyelinated fibers. Hypomyelination appears to be only one aspect of this neuropathy, in which axonal pathology plays a major role.