We describe a 57-year-old woman, a heterozygote for Fabry disease who had multiple hemorrhagic cerebral infarctions. Her clinical course and radiological findings suggested cardiogenic cerebral embolus, but distinction from multiple cerebral infarction associated with Fabry disease seemed necessary. Our present case is reported with reference to the literature to introduce various types of stroke, which can develop in patients with Fabry disease.
MehtaARicciRWidmerU. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest.2004; 34: 236–242.
3.
NakaoSTakenakaTMaedaM. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med.1995; 333: 288–293.
4.
SachdevBTakenakaTTeraguchiH. Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy. Circulation.2002; 105: 1407–1411.
5.
MonserratLGimeno-BlanesJRMarinF. Prevalence of Fabry Disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol.2007; 50: 2399–2403.
6.
SpadaMPagliardiniSYasudaM. High incidence of later-onset Fabry disease revealed by newborn screening. Am J Hum Genet.2006; 79: 31–40.
7.
HwuWLChienYHLeeNC. 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.
8.
FellgiebelAMullerMJGinsbergL. CNS manifestations of Fabry's disease. Lancet Neurol.2006; 5: 791–795.
9.
SimsKPoliteiJBanikazemiM. 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. Epub 2009 Jan 15.
ShahJSHughesDASachdevB. Prevalence and clinical significance of cardiac arrhythmia in Anderson-Fabry disease. Am J Cardiol.2005; 96: 842–846.
12.
ChimentiCRussoMAFrustaciA. Atrial biopsy evidence of Fabry disease causing lone atrial fibrillation. Heart.2010; 96: 1782–1783. Epub 2010 Aug 23.
13.
MehtaARicciRWidmerU. Fabry disease defined: Baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest.2004; 34: 236–242.
14.
FellgiebelAMüllerMJMazanekM. White matter lesion severity in male and female patients with Fabry disease. Neurology.2005; 65: 600–602.
15.
MooreDFSchiffmannRUlugAM. Elevated CNS average diffusion constant in Fabry disease. Acta Paediatr Suppl.2002; 91: 67–68.
16.
MooreDFAltarescuGBarkerWC. White matter lesions in Fabry disease occur in ‘prior’ selectively hypometabolic and hyperperfused brain regions. Brain Res Bull.2003; 62: 231–240.
17.
VermeerSEHollanderMvan DijkEJ. Silent brain infarcts and white matter lesions increase stroke risk in the general population: The Rotterdam Scan Study. Stroke.2003; 34: 1126–1129.
18.
WongTYKleinRSharrettAR. Cerebral white matter lesions, retinopathy, and incident clinical stroke. JAMA.2002; 288: 67–74.
19.
GouwAAvan der FlierWMFazekasF. Progression of white matter hyperintensities and incidence of new lacunes over a 3-year period: The Leukoaraiosis and Disability study. Stroke.2008; 39: 1414–1420.
20.
BokuraHKobayashiSYamaguchiS. Silent brain infarction and subcortical white matter lesions increase the risk of stroke and mortality: A prospective cohort study. J Stroke Cerebrovasc Dis.2006; 15: 57–63.
21.
KaneskiCRMooreDFRiesM. Myeloperoxidase predicts risk for vasculopathic events in Fabry disease. Neurology.2006; 67: 2045–2047.
22.
WilcoxWRBanikazemiMGuffonN. Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet.2004; 75: 65–74.
23.
MooreDFAltarescuGLingGS. Elevated cerebral blood flow velocities in Fabry disease with reversal after enzyme replacement. Stroke.2002; 33: 525–531.
24.
WeidemannFNiemannMBreunigF. Long-term effects of enzyme replacement therapy on fabry cardiomyopathy: Evidence for a better outcome with early treatment. Circulation.2009; 119: 524–529. Epub 2009 Jan 19.
25.
WeidemannFBreunigFBeerM. Improvement of cardiac function during enzyme replacement therapy in patients with Fabry disease: A prospective strain rate imaging study. Circulation.2003; 108: 1299–1301. Epub 2003 Sep 2.