Article
Diagnosis of X-adrenoleucodystrophy phenotypic variants.
Acta neurologica Scandinavica - 1 Jun 1993
Coria F, García-Viejo M A, Delgado J A, Duarte J, Clavería L E, Girós M, Pampols T
Abstract excerpt
We report the radiological and biochemical data of a familial X-adrenoleucodystrophy with an extreme phenotypic variability, in which the diagnosis of several affected members was delayed for several years. The propositus developed a progressive dementia, while two of his brothers were diagnosed...
Topics
- Addison Disease
- Adrenal Cortex Function Tests
- Adrenoleukodystrophy
- Adult
- Brain
- Humans
- Magnetic Resonance Imaging
- Male
- Neurologic Examination
- Pedigree
- Phenotype
- Sex Chromosome Aberrations
- Tomography, X-Ray Computed