Adrenomyeloneuropathy

Abstract

We have studied four unrelated males with a heritable disorder that we term adrenomyeloneuropathy; limited clinical information is available on a fifth case. All had adrenal insufficiency beginning in childhood and developed progressive spastic paraparesis in the third decade. Hypogonadism of variable severity was present in all four cases appropriately examined. Neurologic features included peripheral neuropathy, impotence, and sphincter disturbances. Late manifestations were cerebellar dysfunction in one case and dementia and hemiparesis in another. A family history of adrenal disease or spastic paraparesis was present in two cases and absent in one; in the other two, no family history was available. Although males are predominantly affected, the mode of inheritance is uncertain. Adrenomyeloneuropathy probably represents a clinically and genetically distinct variant of childhood adrenoleukodystrophy.