Adult adrenoleukodystrophy: the clinical spectrum in a large Dutch family.
J Neurol
; 239(2): 107-11, 1992 Feb.
Article
em En
| MEDLINE
| ID: mdl-1313076
ABSTRACT
A large family with adrenoleukodystrophy is described and the case histories of two clinically symptomatic and related male patients are presented. Clinical, biochemical and genetic screening of their family demonstrated two clinically affected males, one biochemically affected male and five carrier females. Two women were symptomatic; one suffered an acute exacerbation. One female was diagnosed as a carrier, based on genetic analysis and the family history only. Endocrinological screening was performed in the five affected males, demonstrating an elevated adrenocorticotrophic hormone level and a normal cortisol level in two, as evidence of compensated adrenocortical failure.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Adrenoleucodistrofia
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
Limite:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
J Neurol
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
Holanda