Aseptic meningitis and ischaemic stroke in Fabry disease

International Journal of Clinical Practice

Volumn 63, Issue 11, 2009, Pages 1663-1667

  Lidove, O ^a   Chauveheid, M P ^a   Caillaud, C ^b   Froissart, R ^c   Benoist, L ^d   Alamowitch, S ^d   Doan, S ^a   Szalat, R ^a   Baumann, N ^e   Alexandra, J F ^a,d   Lavallee P ^a   Klein, I ^a   Vuillemet, F ^f   Sedel, F ^e   Sacre K ^a   Samson, Y ^e   Roullet, E ^d   Papo, T ^a  

^a BICHAT HOSPITAL   (France)

^b Department of Genetics Hôpital Cochin ^*  (France)

^c HÔPITAL DEBROUSSE   (France)

^d HÔPITAL TENON   (France)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f Pasteur Hospital   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ACETYLSALICYLIC ACID; AGALSIDASE ALFA; ALPHA GALACTOSIDASE; AZATHIOPRINE; DOXYCYCLINE; GABAPENTIN; PREDNISONE; RAMIPRIL; RIFAMPICIN; WARFARIN;

ADULT; ARTICLE; ASEPTIC MENINGITIS; CASE REPORT; CEREBROSPINAL FLUID ANALYSIS; CEREBROVASCULAR ACCIDENT; CLINICAL EXAMINATION; ENZYME REPLACEMENT; ERYTHROCYTE SEDIMENTATION RATE; FABRY DISEASE; GENE MUTATION; HEADACHE; HUMAN; INTRACRANIAL HYPERTENSION; LUMBAR PUNCTURE; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PLEOCYTOSIS; PRIORITY JOURNAL; PROTEIN CEREBROSPINAL FLUID LEVEL; SYMPTOM; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; BRAIN ISCHEMIA; COMPLICATION; EARLY DIAGNOSIS; MENINGITIS, ASEPTIC; STROKE;

ADULT; BRAIN ISCHEMIA; EARLY DIAGNOSIS; FABRY DISEASE; HEADACHE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MENINGITIS, ASEPTIC; STROKE;

EID: 70349958162     PISSN: 13685031     EISSN: 17421241     Source Type: Journal    
DOI: 10.1111/j.1742-1241.2009.02115.x     Document Type: Article

References (24)

1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In : Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Basis of Inherited Disease, 8th edn. New York : McGraw-Hill, 2001 : 3733 3774.
2. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001 38 : 750 760. (Pubitemid 33032930)
3. Wilcox WR, Oliveira JP, Hopkin RJ et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry registry. Mol Genet Metab 2008 93 : 112 128.
4. Lidove O, Chauveheid MP, Benoist L, Alexandra JF, Klein I, Papo T. Chronic meningitis and thalamic involvement: Fabry disease expanding phenotype. J Neurol Neurosurg Psychiatry 2007 78 : 1007.
5. Mitsias P, Levine SR. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996 40 : 8 17.
6. Rolfs A, Bottcher T, Zschiesche M et al. Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 2005 366 : 1794 1796.
7. Wise D, Wallace HJ, Jellinek EH. Angiokeratoma corporis diffusum. A clinical study of eight affected families. Q J Med 1962 31 : 177 206.
8. Dubost JJ, Viallard IL, Sauvezie B. Chronic meningitis in Fabry's disease. J Neurol Neurosurg Psychiatry 1985 48 : 714 715.
9. Uyama E, Ueno N, Uchino M et al. Headache associated with aseptic meningeal reaction as clinical onset of Fabry's disease. Headache 1995 35 : 498 501.
10. Perrot X, Nighoghossian N, Derex L et al. Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry's disease. Rev Neurol (Paris) 2002 158 : 596 598.
11. Callegaro D, Kaimen-Maciel DR. Fabry's disease as a differential diagnosis of MS. Int MS J 2006 13 : 27 30.
12. Schreiber W, Udvardi A, Kristoferitsch W. Chronic meningitis and lacunar stroke in Fabry disease. J Neurol 2007 254 : 1447 1449.
13. Eng CM, Fletcher J, Wilcox WR et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry registry. J Inherit Metab Dis 2007 30 : 184 192.
14. Linhart A, Kampmann C, Zamorano JL et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007 28 : 1228 1235.
15. Lou HO, Reske-Nielsen E. The central nervous system in Fabry's disease. A clinical, pathological, and biochemical investigation. Arch Neurol 1971 25 : 351 359.
16. Schiffmann R, Rapkiewicz A, Abu-Asab M et al. Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme therapy. Wirchows Arch 2006 448 : 337 343.
17. Shabbeer J, Robinson M, Desnick RJ. Detection of alpha-galactosidase A mutations causing Fabry disease by denaturing high performance liquid chromatography. Hum Mutat 2005 25 : 299 305.
18. Altarescu G, Moore DF, Schiffmann R. Effect of genetic modifiers on cerebral lesions in Fabry disease. Neurology 2005 64 : 2148 2150.
19. Shen Y, Bodary PF, Vargas FB et al. alpha-galactosidase A deficiency leads to increased tissue fibrin deposition and thrombosis in mice homozygous for the factor V Leiden mutation. Stroke 2006 37 : 1106 1108.
20. Linhart A, Elliott PM. The heart in Anderson-Fabry disease and other lysosomal storage disorders. Heart 2007 93 : 528 535.
21. Stankovic K, Grateau G. Auto inflammatory syndromes: diagnosis and treatment. Joint Bone Spine 2007 74 : 544 550.
22. Wilcox WR, Banikazemi M, Guffon N et al., International Fabry Disease Study Group. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 2004 75 : 65 74.
23. Schiffmann R, Ries M, Timmons M, Flaherty JT, Brady RO. Long-term therapy with agalsidase alfa for Fabry disease: safety and effects on renal function in a home infusion setting. Nephrol Dial Transplant 2006 21 : 345 354.
24. Jardim L, Vedolin L, Schwartz IV et al. CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy. J Inherit Metab Dis 2004 27 : 229 240.