Abstract
Objective
Fabry disease (FD) is an X-linked lysosomal storage disease caused by the mutation in the α-galactosidase A gene that leads to a consequently decreased α-galactosidase A enzyme activity and a series of clinical presentations. However, FD accompanied with aseptic meningitis can be relatively scarce and rarely reported, which leads to significant clinical misdiagnosis of this disease.
Methods
Sixteen patients diagnosed with FD based on a decreased activity of α-galactosidase A enzyme and/or genetic screening were identified through a 6-year retrospective chart review of a tertiary hospital. Clinical presentations, brain magnetic resonance imaging, cerebrospinal fluid analysis, treatment and outcome data were analyzed in cases of aseptic meningitis associated with FD.
Results
Three out of 16 cases exhibited aseptic meningitis associated with FD. There was one female and two male patients with a mean age of 33.3 years. A family history of renal failure or hypertrophic cardiomyopathy was found in 3 cases. All cases presented with a persistent or intermittent headache and recurrent ischemic stroke. The cerebrospinal fluid analyses showed mild pleocytosis in 2 patients and an elevated level of protein in all patients. Cerebrospinal fluid cytology revealed activated lymphocytes, suggesting the existence of aseptic meningitis. In the literature review, up to 9 cases presenting with FD and aseptic meningitis were found, which bore a resemblance to our patients in demographic and clinical characteristics.
Conclusion
Our cases suggested that aseptic meningitis in FD might be under-detected and easily misdiagnosed, and should be more thoroughly examined in further cases.
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References
Boustany RMN. Lysosomal storage diseases—the horizon expands. Nat Rev Neurol, 2013,9(10):583–598
Dubost JJ, Viallard IL, Sauvezie B. Chronic meningitis in Fabry’s disease. J Neurol Neurosurg Psychiatry, 1985,48(7):714–715
Uyama E, Ueno N, Uchino M, et al. Headache Associated With Aseptic Meningeal Reaction as Clinical Onset of Fabry’s Disease. Headache, 1995,35(8):498–501
Perrot X, Nighoghossian N, Derex L, et al. Vertebro-basilar ischemic strokes and aseptic meningitis, late complications of Fabry’s disease. Rev Neurol (Paris, French), 2002,158(5 Pt 1):596–598
Callegaro D, Kaimen-Maciel DR. Fabry’s disease as a differential diagnosis of MS. Int MS J, 2006,13(1):27–30
Schreiber W, Udvardi A, Kristoferitsch W. Chronic meningitis and lacunar stroke in Fabry disease. J Neurol, 2007,254(10):1447–1449
Lidove O, Chauveheid MP, Benoist L, et al. Chronic meningitis and thalamic involvement in a woman: Fabry disease expanding phenotype. J Neurol Neurosurg Psychiatry, 2007,78(9):1007
Lidove O, Chauveheid MP, Caillaud C, et al. Aseptic meningitis and ischaemic stroke in Fabry disease: Aseptic meningitis in Fabry disease. Int J Clin Pract, 2009,63(11):1663–1667
Sawada J, Katayama T, Kano K, et al. A Sporadic Case of Fabry Disease Involving Repeated Fever, Psychiatric Symptoms, Headache, and Ischemic Stroke in an Adult Japanese Woman. Intern Med, 2015,54(23):3069–3074
Zarate YA, Hopkin RJ. Fabry’s disease. Lancet, 2008,372(9647):1427–1435
Schiffmann R, Ries M. Fabry Disease: A Disorder of Childhood Onset. Pediat Neurol, 2016,64:10–20
Rozenfeld P, Feriozzi S. Contribution of inflammatory pathways to Fabry disease pathogenesis. Mol Genet Metab, 2017,122(3):19–27
Rigante D, Cipolla C, Basile U, et al. Overview of immune abnormalities in lysosomal storage disorders. Immunol Lett, 2017,188:79–85
DeGraba T, Azhar S, Dignat-George F, et al. Profile of endothelial and leukocyte activation in Fabry patients. Ann Neurol, 2000,47(2):229–233
El-Abassi R, Singhal D, England JD. Fabry’s disease. J Neurol Sci, 2014,344(1–2):5–19
Dubuc V, Moore DF, Gioia LC, et al. Prevalence of Fabry Disease in Young Patients with Cryptogenic Ischemic Stroke. J Stroke Cerebrovasc Dis, 2013,22(8):1288–1292
Acknowledgements
The authors would like to thank all patients for participating in the project.
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This research was supported by the Chinese Neurology Innovative Research Foundation (No. CIMF-Z-2016-20-1801).
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Tang, My., Hong, Yh., Zhou, Lx. et al. Fabry Disease with Aseptic Meningitis: A Case Series and Literature Review of an Underestimated Clinical Presentation. CURR MED SCI 42, 274–279 (2022). https://doi.org/10.1007/s11596-022-2578-4
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DOI: https://doi.org/10.1007/s11596-022-2578-4