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Bilateral thalamic infarction in a patient with factor V Leiden mutation
1Department of Internal Medicine, Wright State University School of Medicine, Dayton, Ohio, USA.
Mayo Clinic Proceedings
|September 3, 1999
Summary
Bilateral thalamic infarction, a rare brain event, was linked to the factor V Leiden mutation in a patient. This finding suggests physicians should consider this genetic mutation in stroke evaluations.
Area of Science:
- Neurology
- Hematology
- Genetics
Background:
- Ischemic stroke can manifest in various forms, including rare presentations like bilateral thalamic infarction.
- Identifying the underlying cause of ischemic stroke is crucial for effective management and prevention.
- Factor V Leiden mutation is a known risk factor for venous and arterial thrombosis.
Observation:
- A 50-year-old male presented with unresponsiveness and ophthalmoplegia.
- Magnetic resonance imaging (MRI) revealed bilateral thalamic infarction.
- Extensive diagnostic workup, including advanced neuroimaging and laboratory tests, was performed.
Findings:
- The primary finding was bilateral thalamic infarction.
- No other significant predisposing factors for stroke were identified.
- The patient was found to have a heterozygous factor V Leiden mutation.
Implications:
- This case represents the first reported association between bilateral thalamic infarction and factor V Leiden mutation.
- The findings highlight the importance of considering factor V Leiden mutation in patients with cryptogenic ischemic stroke, particularly those with unusual lesion locations.
- Further research may elucidate the specific mechanisms linking factor V Leiden mutation to thalamic infarction.