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Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. 2010
Sacha Ferdinandusse, and
Simon Barker, and
Katherine Lachlan, and
Marinus Duran, and
Hans R Waterham, and
Ronald J A Wanders, and
Simon Hammans
Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl
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.
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