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Central nervous system vasculopathy caused by Fabry disease: a case report
De-Zheng Kong1, Ya-Hui Lian1, Lin-Jing Wang1
1Department of Radiology, The First Hospital of Jilin University, Xinmin St. #71, Changchun, 130021, China.
BMC Neurology
|June 8, 2019
Summary
Fabry disease, a rare condition, can cause central nervous system vasculopathy. Early diagnosis using MR black-blood sequences is crucial for identifying this rare disease in young patients with migratory brain lesions.
Area of Science:
- Neurology
- Medical Imaging
- Rare Diseases
Background:
- Fabry disease is a rare genetic disorder often diagnosed late.
- It can lead to vasculopathy affecting the central nervous system.
- Timely diagnosis is critical for effective management.
Observation:
- A 27-year-old male presented with double vision.
- Diagnosis revealed Fabry disease causing CNS vasculopathy.
- Migratory vascular lesions were observed during treatment.
Findings:
- Magnetic Resonance (MR) black-blood sequence imaging clearly identified vasculopathy.
- Corticosteroid treatment showed initial symptom improvement.
- Lesions demonstrated a migratory pattern, disappearing and reappearing.
Implications:
- Timely MR black-blood sequence scans are recommended for young patients with migratory brain lesions.
- Consider Fabry disease in patients with vascular lesions and systemic symptoms.
- Improved diagnostic strategies can lead to earlier intervention for Fabry disease.
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