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Alexander disease: diagnosis with MR imaging.
M S van der Knaap1, S Naidu, S N Breiter
1Department of Child Neurology, Free University Hospital, Amsterdam, the Netherlands.
AJNR. American Journal of Neuroradiology
|March 10, 2001
Summary
Magnetic resonance imaging (MRI) criteria can now diagnose Alexander disease in vivo. This reduces the need for brain biopsies, except in rare, atypical cases.
Area of Science:
- Neurology
- Radiology
- Medical Diagnostics
Background:
- Alexander disease diagnosis traditionally requires identifying Rosenthal fibers via brain biopsy or autopsy.
- Magnetic resonance imaging (MRI) offers a potential non-invasive diagnostic alternative.
Purpose of the Study:
- To establish reliable MRI criteria for diagnosing Alexander disease.
- To assess the feasibility of an MRI-based diagnosis, reducing reliance on invasive procedures.
Main Methods:
- Analyzed MRI scans from three autopsy-confirmed Alexander disease cases to define diagnostic criteria.
- Applied these criteria retrospectively to 217 pediatric leukoencephalopathy cases.
Main Results:
- Defined five key MRI criteria, including specific white matter changes, signal abnormalities, and contrast enhancement patterns.
- Identified 19 patients meeting these criteria, with four subsequently confirmed histologically.
- Observed strong correlation between MRI findings, clinical symptoms, and known histopathology.
Conclusions:
- Established MRI criteria enable accurate in vivo diagnosis of Alexander disease.
- Brain biopsy is now only necessary for atypical presentations, significantly advancing diagnostic capabilities.