Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Issue 3 (25th February 2010)

• Record Type: Journal Article
• Authors: Ferdinandusse, Sacha; Barker, Simon; Lachlan, Katherine; Duran, Marinus; Waterham, Hans R; Wanders, Ronald J A; Hammans, Simon
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 81:Issue 3(2010)
• Page Start: 310
• Page End: 312
• Publication Date: 2010-02-25
• Subjects: Fatty acid oxidation disorder -- very long-chain fatty acids -- peroxisomes -- adrenoleucodystrophy -- cerebellar ataxia -- MRI; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2009.176255
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Peroxisomal acyl-coenzyme A oxidase deficiency (formerly also called pseudoneonatal adrenoleucodystrophy) is a disorder of peroxisomal fatty acid oxidation with a severe presentation. Most patients present at birth or in early infancy, and the mean age of death was 5 years in a recently published cohort of 22 patients. Brain imaging shows a progressive leucodystrophy. The authors report here the first adult patients (two siblings, 52 and 55 years old) with peroxisomal acyl-coenzyme A oxidase deficiency with a remarkably mild clinical presentation. Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum.