Ischemic Stroke in a Patient with Heterozygote Fabry's Disease
- Author:
Sun Woo YANG
1
;
Jay Chol CHOI
;
Hyun Woo KIM
;
Jin Ho JEONG
;
Chang Lim HYUN
;
Myeong Ju KOH
Author Information
- Publication Type:Case Report
- Keywords: Fabry disease; Heterozygote; Brain ischemia
- MeSH: Brain; Brain Ischemia; Extremities; Fabry Disease; Female; Heterozygote; Humans; Magnetic Resonance Imaging; Middle Aged; Stroke
- From:Journal of the Korean Neurological Association 2018;36(4):341-344
- CountryRepublic of Korea
- Language:Korean
- 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.
