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Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
  1. Sacha Ferdinandusse1,
  2. Simon Barker2,
  3. Katherine Lachlan3,
  4. Marinus Duran1,
  5. Hans R Waterham1,
  6. Ronald J A Wanders1,
  7. Simon Hammans2
  1. 1Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
  2. 2Wessex Neurological Centre, Southampton General Hospital, Southampton, UK
  3. 3Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
  1. Correspondence to Dr Sacha Ferdinandusse, Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; S.Ferdinandusse{at}amc.uva.nl

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.

  • Fatty acid oxidation disorder
  • very long-chain fatty acids
  • peroxisomes
  • adrenoleucodystrophy
  • cerebellar ataxia
  • MRI

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Footnotes

  • Funding This work was supported by The Netherlands Organisation for Scientific Research (NWO, grant number 916.46.109) and the FP6 European Union Project ‘Peroxisomes’ (grant number LSHG-CT-2004512018).

  • Competing interests None.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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