J Korean Neurol Assoc.
2018 Nov;36(4):341-344. 10.17340/jkna.2018.4.14.
Ischemic Stroke in a Patient with Heterozygote Fabry's Disease
- Affiliations
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- 1School of Medicine, Jeju National University, Jeju, Korea.
- 2Department of Neurology, School of Medicine, Jeju National University, Jeju, Korea. jaychoi@jejunu.ac.kr
- 3Department of Internal Medicine, School of Medicine, Jeju National University, Jeju, Korea.
- 4Department of Ophthalmology, School of Medicine, Jeju National University, Jeju, Korea.
- 5Department of Pathology, School of Medicine, Jeju National University, Jeju, Korea.
- 6Department of Radiology, School of Medicine, Jeju National University, Jeju, Korea.
- KMID: 2435848
- DOI: http://doi.org/10.17340/jkna.2018.4.14
Abstract
- It is uncommon for Fabry's disease (FD) patient to present with an isolated ischemic stroke without other typical symptoms or signs of FD. A 48-year-old woman presented with recurrent limb weakness and her brain magnetic resonance imaging revealed multiple ischemic brain lesions. Ten years ago, the patient had been diagnosed with heterozygote FD by the genetic test, but she had not shown any typical symptoms or sign of FD so far. Isolated organ involvement could occur in heterozygote FD.
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