Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
- Sacha Ferdinandusse1,
- Simon Barker2,
- Katherine Lachlan3,
- Marinus Duran1,
- Hans R Waterham1,
- Ronald J A Wanders1,
- Simon Hammans2
- 1Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
- 2Wessex Neurological Centre, Southampton General Hospital, Southampton, UK
- 3Wessex Clinical Genetics Service, Princess Anne Hospital, Southampton, UK
- Correspondence to Dr Sacha Ferdinandusse, Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands;
- Received 2 March 2009
- Revised 2 March 2009
- Accepted 27 March 2009
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
- cerebellar ataxia
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.