[Cerebral adrenomyeloneuropathy as a late type of adrenoleukodystrophy: case report]. / Mózgowa odmiana adrenomyeloneuropatii jako pózna postac adrenoleukodystrofii. Opis przypadku.
Neurol Neurochir Pol
; 34(3): 579-85, 2000.
Article
em Pl
| MEDLINE
| ID: mdl-10979550
ABSTRACT
Adrenoleukodystrophy (ALD) is a hereditary disease related to abnormalities in the structure and function of peroxisomes. The nature of disorder arises from defective process of beta-oxidation of very-long-chain fatty acids and their accumulation in various organs. ALD may present as a few phenotypes urologic symptomatology of which depends on proportions of the brain, spinal cord and peripheral nerves affection. Below, we present a case (and its family) of a cerebral type of adrenomyeloneuropathy--a rare form of adrenoleukodystrophy, and discuss its clinical manifestation as well as biochemical, hormonal, electrophysiological, neuropsychological and magnetic resonance imaging (MRI) diagnostics.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Encéfalo
/
Adrenoleucodistrofia
/
Peroxissomos
/
Ácidos Graxos
Tipo de estudo:
Diagnostic_studies
Limite:
Adult
/
Humans
/
Male
Idioma:
Pl
Revista:
Neurol Neurochir Pol
Ano de publicação:
2000
Tipo de documento:
Article