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Serial MR studies in Menkes disease
S I Blaser1, D H Berns, J S Ross
1Department of Radiology, University Hospitals of Cleveland/Case Western Reserve University, OH 44106.
Journal of Computer Assisted Tomography
|January 1, 1989
Summary
This study details characteristic magnetic resonance imaging findings in Menkes disease, showing abnormal intracranial vessels and progressive white matter disease over two months.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Menkes disease is a rare genetic disorder affecting copper metabolism.
- It typically presents with neurological and connective tissue abnormalities.
Observation:
- Serial magnetic resonance imaging (MRI) was performed over two months in a patient with Menkes disease.
- The imaging focused on characterizing intracranial and white matter changes.
Findings:
- The MRI revealed a characteristic combination of findings.
- Abnormal intracranial vessels were clearly demonstrated.
- Progression of white matter disease was evident over the observation period.
Implications:
- These findings enhance the understanding of the neuroimaging spectrum in Menkes disease.
- Serial MRI can be valuable for monitoring disease progression.
- This contributes to the diagnostic and prognostic capabilities for Menkes disease.