[A case of adrenomyeloneuropathy with localized cerebral white matter degeneration]

A male with an atypical adrenomyeloneuropathy is described, who developed spastic paraparesis at the age of 37. Because his gait deteriorated further and he had a bladder dysfunction, he was admitted to National Sanatorium Hyogo Central Hospital at the age of 51. A diagnosis of adrenomyeloneuropathy was supported by increased level of very long chain fatty acids in plasma. He became demented and suffered from grand mal seizures during the last one year of his life. CT scan showed symmetrical hypodense lesions in the centrum semiovale. He died of pneumonia and renal failure at the age of 53. Autopsy revealed symmetrical degeneration throughout the corticospinal tracts from cerebral white matter to lumbar spinal cord. Degeneration of the optic radiation, posterior half of the corpus callosum, thalamus, cerebellar white matter, and gracile tract in high cervical segments were also observed. In these area, there was a loss of myelin and axon with marked gliosis and foamy macrophages, as well as mild perivascular cuffing. In our case, symmetrical and well-defined lesion in cerebral white matter is atypical for adrenomyeloneuropathy, while destruction of the gracile tracts is not a feature of adrenoleukodystrophy. In addition, well-demarcated "pseudosystemic" type of fiber tract degeneration appears to be different from a feature of primary demyelination which has been considered to be an essential alteration of adrenoleukomyeloneuropathy-complex. We propose another hypothesis, therefore, that neurons are primarily altered, thereby leading to the degeneration of myelins in this disease.