[Adult myeloneuropathic variant of adrenoleukodystrophy with Addison crisis]

In a 32-year-old patient on account of an insufficiency of the adrenal cortex as well as of a leg-related tetraspasticity with a simultaneous subclinical peripheral neuropathy after exclusion of other endocrine and neurological diseases which are to be regarded differential-diagnostically the diagnosis of a myeloneuropathic adult variant of the adrenoleukodystrophy, the adrenomyeloneuropathy, was made. The disease in question is an x-chromosomally inherited disease, the basis of which is a metabolic disease in the destruction of long-chained fatty acids as basal disturbance. The cerebral radiologic exclusion diagnostics was made with CCT and MRT. On the basis of the literature the differential-diagnostic problems of this rare subspecies of the adrenoleukodystrophy which is at present causally not to be treated are discussed and it is referred to the clinical conclusions concerning a timely hormonal substitution therapy and genetic consultation.