Fabry Disease Diagnosis in a Young Stroke Patient: A Case Report

References (4)

1. Desnick RJ, Ioannou YA, Eng CM. α-Galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The Metabolic and Molecular Basis of Inherited Disease, 8th ed. New York: McGraw-Hill; 2001. pp.3733–3774.
2. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ. High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 2006;79:31–40. [CrossRef] Hwu WL, Chien YH, Lee NC, Chiang SC, Dobrovolny R, Huang AC, Yeh HY, Chao MC, Lin SJ, Kitagawa T, Desnick RJ, Hsu LW. Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A). Hum Mutat 2009;30:1397–1405. [CrossRef] Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C, Linhart A, Sunder-Plassmann G, Ries M, Beck M. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236–242. [CrossRef] Møller AT, Jensen TS. Neurological manifestations in Fabry’s disease. Nat Clin Pract Neurol 2007;3:95–106. [CrossRef] 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. [CrossRef] Politei J, Schenone AB, Burlina A, Blanco M, Lescano S, Szlago M, Cabrera G. Vertebrobasilar dolichoectasia in Fabry Disease: the earliest marker of neurovascular involvement? J Inborn Errors Metab Screening 2014;2. [CrossRef] Fellgiebel A, Muller MJ, Ginsberg L. CNS manifestations of Fabry’s disease. Lancet Neurol 2006;5:791–795. [CrossRef] Mehta A, Hughes DA. Fabry Disease 2002 Aug 5 [Updated 2013 Oct 17]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2018. Available from: http://www.ncbi.nlm.nih.gov/books/NBK1292/
3. Maron BJ, Olivotto I, Bellone P, Conte MR, Cecchi F, Flygenring BP, Casey SA, Gohman TE, Bongioanni S, Spirito P. Clinical profile of stroke in 900 patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 2002;39:301–7.
4. Nishimura K, Uehara T, Ishibashi-Ueda H, Anzai T, Toyoda K. Cardioembolic stroke in the cardiac variant of Fabry disease. Neurol Clin Neurosci 2015;3:78–80. [CrossRef] Rolfs A, Böttcher T, Zschiesche M, Morris P, Winchester B, Bauer P, Walter U, Mix E, Löhr M, Harzer K, Strauss U, Pahnke J, Grossmann A, Benecke R. Pre