| Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy. | |
| | |
MedLine Citation:
|
PMID: 20185470 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
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. |
| | |
Authors:
|
Sacha Ferdinandusse; Simon Barker; Katherine Lachlan; Marinus Duran; Hans R Waterham; Ronald J A Wanders; Simon Hammans |
Publication Detail:
|
Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
|
Title: Journal of neurology, neurosurgery, and psychiatry Volume: 81 ISSN: 1468-330X ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 2010 Mar |
Date Detail:
|
Created Date: 2010-02-26 Completed Date: 2010-03-22 Revised Date: - |
Medline Journal Info:
|
Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: England |
Other Details:
|
Languages: eng Pagination: 310-2 Citation Subset: IM |
Affiliation:
|
Laboratory Genetic Metabolic Diseases, F0-220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands. S.Ferdinandusse@amc.uva.nl |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Atrophy Brain Stem / pathology* Cerebellum / pathology* Disease Progression Female Humans Magnetic Resonance Imaging Male Middle Aged Neurologic Examination Oxidoreductases / deficiency*, genetics Peroxisomal Disorders / diagnosis*, genetics Phenotype |
| Chemical | |
Reg. No./Substance:
|
EC 1.-/Oxidoreductases; EC 1.3.3.-/peroxisomal acyl-CoA oxidase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Brain structure and function in neurofibromatosis type 1: current concepts and future directions.
Next Document: Tremor: a newly described adverse event with long-term itraconazole therapy.