PT  - JOURNAL ARTICLE
AU  - Sacha Ferdinandusse
AU  - Simon Barker
AU  - Katherine Lachlan
AU  - Marinus Duran
AU  - Hans R Waterham
AU  - Ronald J A Wanders
AU  - Simon Hammans
TI  - Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
AID  - 10.1136/jnnp.2009.176255
DP  - 2010 Mar 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 310--312
VI  - 81
IP  - 3
4099  - http://jnnp.bmj.com/content/81/3/310.short
4100  - http://jnnp.bmj.com/content/81/3/310.full
SO  - J Neurol Neurosurg Psychiatry2010 Mar 01; 81
AB  - 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.