A Case of Adrenoleukodystrophy Presenting as Progressive Cerebellar Dysfunction

Abstract

X-linked adrenoleukodystrophy (X-ALD) is a hereditary neurological disorder affecting the nervous system and adrenal cortex. The phenotype of X-ALD ranges from the rapidly progressive cerebral form to milder adrenomyeloneuropathy. However, cerebellar manifestations are rare. We report a case of adrenoleukodystrophy presenting as progressive cerebellar dysfunction resembling olivopontocerebellar degeneration, with a review of the literature

Keywords

• X-linked adrenoleukodystrophy
• Phenotype
• Olivopontocerebellar degeneration