J Korean Neurosurg Soc.  2013 Mar;53(3):187-189. 10.3340/jkns.2013.53.3.187.

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

• Chang YH
• Hwang SK

• KMID: 2190760
• DOI: http://doi.org/10.3340/jkns.2013.53.3.187

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.

Keyword

Fabry's diseas; Subarachnoid hemorrhage; Cerebral aneurysm

MeSH Terms

Aneurysm
Arteries
Biopsy, Needle
Fabry Disease
Female
Humans
Intracranial Aneurysm
Kidney
Mucolipidoses
Nephrosis
Proteinuria
Risk Factors
Subarachnoid Hemorrhage
Mucolipidoses
Nephrosis

Figure

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  Fig. 1 The preoperative right internal carotid artery angiography showing typical saccular aneurysm of the posterior communicating artery.

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  Fig. 2 Anteroposterior view of postembolization right internal carotid artery angiography demonstrating complete occlusion of aneurysm preserving a posterior communicating artery.

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  Fig. 3 A : Pathologic findings from light microscopy; all glomeruli show marked swelling of podocyte with expanded foamy or vacuolar cytoplasmic change. Capillary loops of glomeruli are partly collapsed by swollen podocytes. B : Electron microscopy; the ultrastructure of glomerulus show marked expansion of podocytes with severe vacuolar change. Vacuoles have some lipid droplets or waterly silk material. Foot process of podocytes is markedly effaced.

Reference

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. 2010; 41:431–436. PMID: 20110537.

2. Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA. 2000; 284:2771–2775. PMID: 11105184.

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. 2007; 109:479–484. PMID: 17509753.

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. 2010; 41:863–868. PMID: 20360539.

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. 1998; 50:1746–1749. PMID: 9633721.

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). 2005; 83:647–654. PMID: 15806320.

7. Fabry H. An historical overview of Fabry disease. J Inherit Metab Dis. 2001; 24(Suppl 2):3–7. PMID: 11758677.

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. 2009; 72:63–68. PMID: 19122032.

9. Fellgiebel A, Müller MJ, Ginsberg L. CNS manifestations of Fabry's disease. Lancet Neurol. 2006; 5:791–795. PMID: 16914407.

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. 2001; 38:769–775. PMID: 11732485.

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. 2004; 34:236–242. PMID: 15025684.

12. Møller AT, Jensen TS. Neurological manifestations in Fabry's disease. Nat Clin Pract Neurol. 2007; 3:95–106. PMID: 17279083.

13. Nakamura K, Sekijima Y, Nakamura K, Hattori K, Nagamatsu K, Shimizu Y, et al. Cerebral hemorrhage in Fabry's disease. J Hum Genet. 2010; 55:259–261. PMID: 20300124.

14. Reisin RC, Romero C, Marchesoni C, Nápoli G, Kisinovsky I, Cáceres G, et al. Brain MRI findings in patients with Fabry disease. J Neurol Sci. 2011; 305:41–44. PMID: 21463870.

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. 2005; 366:1794–1796. PMID: 16298216.

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. 2009; 40:788–794. PMID: 19150871.

17. Zarate YA, Hopkin RJ. Fabry's disease. Lancet. 2008; 372:1427–1435. PMID: 18940466.