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
Original language | Undefined/Unknown |
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Pages (from-to) | 310-312 |
Journal | Journal of Neurology, Neurosurgery and Psychiatry |
Volume | 81 |
Issue number | 3 |
DOIs | |
Publication status | Published - 2010 |