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Related Experiment Videos

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
PubMed
Summary

This study details characteristic magnetic resonance imaging findings in Menkes disease, showing abnormal intracranial vessels and progressive white matter disease over two months.

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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.

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  • Serial MRI can be valuable for monitoring disease progression.
  • This contributes to the diagnostic and prognostic capabilities for Menkes disease.