Adult-onset adrenoleukodystrophy: a clinical and neuropsychological study

Abstract

Adrenoleukodystrophy (ALD) is a rare, X-linked inherited metabolic disease, which is associated with the accumulation of very long chain fatty acids (VLCFA) in the adrenal glands and in the central and peripheral nervous systems. ALD leads to leukoencephalic myeloneuropathy and hypoadrenalism. The two most frequent phenotypes are infantile ALD and adrenomyeloneuropathy (AMN), which account for 80% of cases. Adult-onset ALD is rare (1–3%). The cases reported so far have had a variable course and have often been characterised by prevalently psychiatric symptoms. We describe the case of a 37-year-old man affected by ALD whose symptoms first appeared a few years earlier in the form of worsening personality and memory disturbances, and were followed by the onset of spastic paraparesis and amyotrophy indicative of the concomitant presence of AMN. The neuropsychological alterations configure a picture of mainly frontal cortico-subcortical dementia, which is supported by magnetic resonance findings.