Journal of Korean Neurosurgical Society

The Korean Neurosurgical Society (대한신경외과학회)
권호 표지
DOI QR코드

DOI QR Code

A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's Disease

  • Chang, Youn Hyuk (Department of Neurosurgery, College of Medicine, Ewha Womans University) ;
  • Hwang, Sung-Kyun (Department of Neurosurgery, College of Medicine, Ewha Womans University)
  • Received : 2012.10.09
  • Accepted : 2013.02.25
  • Published : 2013.03.28
Download PDF
⟨ Previous Next ⟩

Abstract

We report an unusual case of cerebral aneurysmal subarachnoid hemorrage (SAH) with Fabry's disease. A 42-year-old woman presented with aneurysmal SAH originated from a saccular aneurysm of the right posterior communicating artery. The patient was treated by an endovascular coil embolization of aneurysm. Postoperatively the patient recovered favorably without any neurological deficit. During her admission, the patient had a sign of proteinuria in urine analysis. The pathologic findings of kidney needle biopsy implied nephrosialidosis (mucolipidosis of lysosomal stroage disease), which is consistent with a Fabry's disease. It is uncommon that Fabry's disease is presented with aneurysmal SAH, especially in middle-aged patients, but could be a clinical concern. Further investigations are needed to reveal risk factors, vascular anatomy, and causative mechanisms of Fabry's disease with aneurysmal SAH.

Keywords

References

  1. Baptista MV, Ferreira S, Pinho-E-Melo T, Carvalho M, Cruz VT, Carmona C, et al. : Mutations of the GLA gene in young patients with stroke : the PORTYSTROKE study--screening genetic conditions in Portuguese young stroke patients. Stroke 41 : 431-436, 2010 https://doi.org/10.1161/STROKEAHA.109.570499
  2. Brady RO, Schiffmann R : Clinical features of and recent advances in therapy for Fabry disease. JAMA 284 : 2771-2775, 2000 https://doi.org/10.1001/jama.284.21.2771
  3. Brouns R, Sheorajpanday R, Braxel E, Eyskens F, Baker R, Hughes D, et al. : Middelheim Fabry Study (MiFaS) : a retrospective Belgian study on the prevalence of Fabry disease in young patients with cryptogenic stroke. Clin Neurol Neurosurg 109 : 479-484, 2007 https://doi.org/10.1016/j.clineuro.2007.03.008
  4. Brouns R, Thijs V, Eyskens F, Van den Broeck M, Belachew S, Van Broeckhoven C, et al. : Belgian Fabry study : prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease. Stroke 41 : 863-868, 2010 https://doi.org/10.1161/STROKEAHA.110.579409
  5. Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK, Barton NW, et al. : Quantitative analysis of cerebral vasculopathy in patients with Fabry disease. Neurology 50 : 1746-1749, 1998 https://doi.org/10.1212/WNL.50.6.1746
  6. Dobrovolny R, Dvorakova L, Ledvinova J, Magage S, Bultas J, Lubanda JC, et al. : Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population. J Mol Med (Berl) 83 : 647-654, 2005 https://doi.org/10.1007/s00109-005-0656-2
  7. Fabry H : An historical overview of Fabry disease. J Inherit Metab Dis 24 Suppl 2 : 3-7, 2001 https://doi.org/10.1023/A:1012443001449
  8. Fellgiebel A, Keller I, Marin D, Müller MJ, Schermuly I, Yakushev I, et al. : Diagnostic utility of different MRI and MR angiography measures in Fabry disease. Neurology 72 : 63-68, 2009 https://doi.org/10.1212/01.wnl.0000338566.54190.8a
  9. Fellgiebel A, Muller MJ, Ginsberg L : CNS manifestations of Fabry's disease. Lancet Neurol 5 : 791-795, 2006 https://doi.org/10.1016/S1474-4422(06)70548-8
  10. MacDermot KD, Holmes A, Miners AH : Anderson-Fabry disease : clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38 : 769-775, 2001 https://doi.org/10.1136/jmg.38.11.769
  11. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, et al. : Fabry disease defined : baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34 : 236-242, 2004 https://doi.org/10.1111/j.1365-2362.2004.01309.x
  12. Moller AT, Jensen TS : Neurological manifestations in Fabry's disease. Nat Clin Pract Neurol 3 : 95-106, 2007 https://doi.org/10.1038/ncpneuro0407
  13. Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, et al. : Cerebral hemorrhage in Fabry's disease. J Hum Genet 55 : 259-261, 2010 https://doi.org/10.1038/jhg.2010.18
  14. Reisin RC, Romero C, Marchesoni C, Napoli G, Kisinovsky I, Caceres G, et al. : Brain MRI findings in patients with Fabry disease. J Neurol Sci 305 : 41-44, 2011 https://doi.org/10.1016/j.jns.2011.03.020
  15. Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, et al. : Prevalence of Fabry disease in patients with cryptogenic stroke : a prospective study. Lancet 366 : 1794-1796, 2005 https://doi.org/10.1016/S0140-6736(05)67635-0
  16. 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 40 : 788-794, 2009 https://doi.org/10.1161/STROKEAHA.108.526293
  17. Zarate YA, Hopkin RJ : Fabry's disease. Lancet 372 : 1427-1435, 2008 https://doi.org/10.1016/S0140-6736(08)61589-5

Cited by

  1. Cerebrovascular Involvement in Fabry Disease : Current Status of Knowledge vol.46, pp.1, 2013, https://doi.org/10.1161/strokeaha.114.006283
  2. Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review vol.16, pp.2, 2013, https://doi.org/10.1007/s11910-015-0612-7
  3. Fabry Disease With Concomitant Lewy Body Disease vol.79, pp.4, 2020, https://doi.org/10.1093/jnen/nlz139