Phenotypic evolution in adrenoleukodystrophy.

Abstract

The X-linked adrenoleukodystrophy (ALD) is a genetic disease, caused by a defect mapped to Xq28. It is characterised by progressive demyelination of the cerebral white matter and adrenal insufficiency. The most important change that occurs is the accumulation of very long chain fatty acids (VLCFAs). The authors describe a patient whom the initial phenotype was Addison disease only (AO). With 21 years old he developed neurological complaints and the electrophysiological and neuroradiological studies performed, confirmed the phenotypic change from AO to pure Adrenomyeloneuropathy. Less than 2 years later, the clinical condition worsened and the magnetic resonance performed confirmed cerebral involvement by the disease. The authors point out the need to determine the levels of VLCFAs in all men with adrenal insufficiency. They also put much emphasis on the endocrinology and neurology following of any patient with ALD because of the possibility of a phenotypic change to occur.