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Alexander's disease in a neurologically normal child: a case report.
Scott O Guthrie1, Edward M Burton, Paul Knowles
1Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga Unit, Erlanger Health System, 975 East Third Street, Chattanooga, TN 37304, USA.
Pediatric Radiology
|December 24, 2002
Summary
A neurologically normal child with macrocephaly showed white matter changes, indicating an early form of Alexander
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Alexander's disease (AD) is a rare genetic leukoencephalopathy.
- It is typically characterized by progressive neurological decline.
Observation:
- A neurologically normal child presented with macrocephaly.
- MRI revealed symmetric white matter hyperintensities in the frontal lobes.
Findings:
- Genetic testing confirmed mutations in the glial fibrillary acidic protein (GFAP) gene.
- This finding is diagnostic for Alexander's disease.
Implications:
- This case suggests an exceptionally mild or early-onset juvenile form of Alexander's disease.
- Early diagnosis is crucial for potential future interventions and understanding disease spectrum.