TITLE

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

AUTHOR(S)
Ferdinandusse, Sacha; Barker, Simon; Lachlan, Katherine; Duran, Marinus; Waterham, Hans R.; Wanders, Ronald J. A.; Hammans, Simon
PUB. DATE
March 2010
SOURCE
Journal of Neurology, Neurosurgery & Psychiatry;Mar2010, Vol. 81 Issue 3, p310
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
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.
ACCESSION #
48406946

 

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