Article
Variable phenotypes in a family kindred with adrenoleukodystrophy.
Pediatric neurology - 1 Jan 2000
Marsh W W, Hurst D L
Abstract excerpt
Adrenoleukodystrophy, an X-linked recessive disorder characterized by progressive demyelination of the central nervous system and adrenal insufficiency, usually manifests at 4-8 years of age. We report a 20-month-old male who presented with the sudden onset of status epilepticus and cortical blindness; initially, he had complete resolution of these findings, but experienced a relapse 3 months later. The initial...
Topics
- Adrenoleukodystrophy
- Blindness
- Brain
- Fatty Acids
- Genes, Recessive
- Genetic Linkage
- Humans
- Infant
- Magnetic Resonance Imaging
- Male
- Phenotype
- Sex Chromosome Aberrations