Hereditary sensory neuropathy: A clinical and ultrastructural study

The clinical features and the pathological findings from sural nerve biopsies of 2 sisters with chronic, distal, symmetrical sensory neuropathy with dissociated sensory loss are reported. Clinical evaluation, electrophysiological determinations and histological and histochemical studies, as well as phase and electron microscopic observations were carried out. In biopsies from both girls the findings were substantially the same. The most prominent findings were limited to the intrafascicular contents which were composed of longitudinally-oriented collagen, many unmyelinated nerve fibers, and fibroblasts with a unique vacuolated appearance of their cytoplasm. Myelinated nerve fibers were absent except for rare axons whose appearance was normal. Neither products of nerve fiber degeneration nor Schwann cell degeneration was noted. The vacuolated endoneurial fibroblasts observed in the biopsies of these 2 sisters appear to be unique, but their role, if any, in the pathogenesis of the sensory neuropathy is unclear.