Clinical diagnosis, biochemical findings and MRI spectrum of peroxisomal disorders
| Autor: | Bwee Tien Poll-The, Jutta Gärtner |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2012 |
| Předmět: |
medicine.medical_specialty
Pediatrics Rhizomelic chondrodysplasia punctata Neuroimaging Disease Biology Diagnosis Differential Peroxisomal Disorders Leukoencephalopathy 03 medical and health sciences 0302 clinical medicine Internal medicine Peroxisomal acyl-CoA oxidase deficiency Peroxisomal disorder medicine Humans D-bifunctional protein deficiency X-linked adrenoleukodystrophy Molecular Biology 030304 developmental biology 0303 health sciences Brain Peroxisome Lipid Metabolism medicine.disease Magnetic Resonance Imaging 3. Good health Phenotype Zellweger spectrum disorder Endocrinology Molecular Medicine Adrenoleukodystrophy Age of onset 030217 neurology & neurosurgery |
| Zdroj: | BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1822(9):1421-1429 |
| ISSN: | 0925-4439 |
| DOI: | 10.1016/j.bbadis.2012.03.011 |
| Popis: | Peroxisomal disorders are an important group of neurometabolic diseases. The clinical presentation is varied in terms of age of onset severity, and different neurological symptoms. The clinical course spans from death in infancy, rapid functional decline, slow decline on long-term followup, to apparent stable course. Leukoencephalopathy and developmental anomalies are characteristic findings on cerebral MR imaging. From a diagnostic point of view the disorders can be clinically subdivided into four broad categories: (1) the Zellweger spectrum disorders and the peroxisomal beta-oxidation disorders, (2) the rhizomelic chondrodysplasia punctata spectrum disorders, (3) the X-linked adrenoleukodystrophy/adrenomyeloneuropathy complex and (4) the remaining disorders. This article discusses the role of MRI findings in the clinical approach of peroxisomal disorders with neurological disease. This article is part of a Special Issue entitled: Metabolic Functions and Biogenesis of peroxisomes in Health and Disease. (C) 2012 Elsevier B.V. All rights reserved |
| Databáze: | OpenAIRE |
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