Morphological studies of peripheral nerves and skeletal muscles of an adult case with adrenoleukomyeloneuropathy.

A 53-year-old patient with adrenoleukomyeloneuropathy, showing symptoms of mental deterioration, cerebellar ataxia, spastic tetraparesis, and polyneuropathy, was reported. The myelinated fiber densities were decreased in the anterior spinal root and sciatic nerve. Most of the myelinated fibers showed segmental demyelination and a few fibers showed axonal degeneration. Electron microscopy showed numerous lipid inclusions in the cytoplasm of the Schwann cells. The muscles showed neurogenic changes. Numerous lipid bodies and intracytoplasmic crystalline arrays were found in the sarcolemma.