X-linked adrenoleukodystrophy: spinocerebellar variant

The phenotypic variability in X-linked adrenoleukodystrophy (X-ALD) can be wide and varied. Rarely, it can present with clinical signs of spinocerebel lar degeneration. There are very few reported cases of selective predominan t white matter disease of the cerebellum in these patients. We report a pat ient with a rare variant of adult onset ALD who was previously diagnosed as spinocerebellar ataxia. He was a 24-year-old male who had delayed developm ental milestones, developed signs of spinocerebellar degeneration (SCD) aft er 10 years of Addison's disease. Serial Magnetic Resonance Imaging (MRI), revealed cerebellar and pontine white matter disease but sparing the cerebr al cortex and supratentorial white matter. His diagnosis of X-ALD was subse quently confirmed by the elevated serum very long chain fatty acids. This p atient illustrates the unusual clinical presentation and imaging features o f X-ALD and the importance of considering X-ALD In the clinical context of spinocerebellar degeneration. Early recognition of this rare variant would allow proper genetic counselling and institution of dietary therapy and/or bone marrow transplantation. (C) 1999 Elsevier Science B.V. All rights rese rved.