The Chediak-Higashi syndrome: Electrophysiological and electron microscopic observations on the peripheral neuropathy

Abstract

The Chediak-Higashi syndrome is an inherited disorder characterized by huge subcellular granules in leukocytes and cells of other tissues. Neurological defects frequently occur in patients with this unusual disease. Electrophysiological and electron microscopic studies have been performed on a child with Chediak-Higashi disease and severe peripheral neuropathy. Transmission of action potentials along nerve fibers was markedly impaired, while muscle electrophysiology appeared normal. A nerve-muscle biopsy examined in the electron microscope revealed characteristic giant Chediak-Higashi granules in Schwann cells supporting peripheral nerve fibers. The possible relationship of the massive granules to the peripheral neuropathy in patients with Chediak-Higashi disease is discussed.