Journal of the Korean neurological association (대한신경과학회지)

Korean Neurological Association (대한신경과학회)
권호 표지
DOI QR코드

DOI QR Code

Ischemic Stroke in a Patient with Heterozygote Fabry's Disease

보인자 파브리병 환자에서 발생한 허혈뇌졸중

  • Yang, Sun Woo (School of Medicine, Jeju National University) ;
  • Choi, Jay Chol (Department of Neurology, School of Medicine, Jeju National University) ;
  • Kim, Hyun Woo (Department of Internal Medicine, School of Medicine, Jeju National University) ;
  • Jeong, Jin-Ho (Department of Ophthalmology, School of Medicine, Jeju National University) ;
  • Hyun, Chang-Lim (Department of Pathology, School of Medicine, Jeju National University) ;
  • Koh, Myeong Ju (Department of Radiology, School of Medicine, Jeju National University)
  • 양선우 (제주대학교 의학전문대학원) ;
  • 최재철 (제주대학교 의학전문대학원 신경과학교실) ;
  • 김현우 (제주대학교 의학전문대학원 내과학교실) ;
  • 정진호 (제주대학교 의학전문대학원 안과학교실) ;
  • 현창림 (제주대학교 의학전문대학원 병리학교실) ;
  • 고명주 (제주대학교 의학전문대학원 영상의학과학교실)
  • Received : 2018.06.14
  • Accepted : 2018.08.09
  • Published : 2018.11.30
⟨ Previous Next ⟩

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.

Keywords

References

  1. El-Abassi R, Singhal D, England JD. Fabry's disease. J Neurol Sci 2014;344:5-19. https://doi.org/10.1016/j.jns.2014.06.029
  2. Germain DP. Fabry disease. Orphanet J Rare Dis 2010;5:30. https://doi.org/10.1186/1750-1172-5-30
  3. Ishii S, Kase R, Sakuraba H, Suzuki Y. Characterization of a mutant alpha-galactosidase gene product for the late-onset cardiac form of Fabry disease. Biochem Biophys Res Commun 1993;197:1585-1589. https://doi.org/10.1006/bbrc.1993.2659
  4. Choi JH, Cho YM, Suh KS, Yoon HR, Kim GH, Kim SS, et al. Short-term efficacy of enzyme replacement therapy in Korean patients with Fabry disease. J Korean Med Sci 2008;23:243-250. https://doi.org/10.3346/jkms.2008.23.2.243
  5. Sims K, Politei J, Banikazemi M, Lee P. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry. Stroke 2009;40:788-794. https://doi.org/10.1161/STROKEAHA.108.526293
  6. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-2749. https://doi.org/10.1001/jama.285.21.2743
  7. Reisin R, Perrin A, Garcia-Pavia P. Time delays in the diagnosis and treatment of Fabry disease. Int J Clin Pract 2017;71.
  8. Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8:539-548. https://doi.org/10.1097/01.gim.0000237866.70357.c6
  9. Health Insurance Review & Assessment Service. Agalsidase alfa 3.5mg. [online] 2016 Jul 31 [cited 2018 Aug 9]. Available from: URL:http://www.hira.or.kr/rd/insuadtcrtr/bbsView.do?pgmid=HIRAA030069000400&brdScnBltNo=4&brdBltNo=50556.