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Intracranial and extracranial MR angiography in Menkes disease
1Department of Diagnostic Radiology, Ajou University School of Medicine, 5 Wonchon-dong, Paldal-gu, Suwon 442-749, Korea.
Pediatric Radiology
|November 5, 1997
Abstract:
We report a case of Menkes disease in which brain MR imaging and MR angiography (MRA) were performed. In addition to minimal brain atrophy, severe intracranial and extracranial vascular tortuosity was demonstrated on head and neck MRA. Additional neck MRA was useful in evaluating the extent of the extracranial vascular abnormality in Menkes disease.
Insights
Menkes disease can cause severe vascular abnormalities in the brain and neck. Magnetic resonance angiography (MRA) effectively visualizes this tortuosity, aiding diagnosis and assessment.
Area of Science:
- Neurology
- Radiology
- Medical Imaging
Background:
- Menkes disease is a rare genetic disorder affecting copper metabolism.
- Cerebrovascular abnormalities are a known but often under-imaged feature of Menkes disease.
Observation:
- Brain MRI and MRA were performed in a patient diagnosed with Menkes disease.
- The imaging revealed minimal brain atrophy alongside significant intracranial and extracranial vascular tortuosity.
Findings:
- Head and neck MRA demonstrated severe tortuosity of both intracranial and extracranial blood vessels.
- The findings highlight MRA as a valuable tool for assessing vascular involvement in Menkes disease.
Implications:
- This case underscores the importance of MRA in evaluating the full spectrum of vascular complications in Menkes disease.
- Accurate imaging of vascular tortuosity can inform clinical management and prognosis for affected individuals.