Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy

Ferdinandusse, Sacha, Barker, Simon, Lachlan, Katherine, Duran, Marinus, Waterham, Hans R., Wanders, Ronald J. A. and Hammans, Simon (2010) Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. Journal of Neurology, Neurosurgery and Psychiatry, 81 (3), 310-312. (doi:10.1136/jnnp.2009.176255).

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.

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