Clinical and magnetic resonance imaging studies of Anderson-Fabry disease: 2 cases report
10.3760/cma.j.issn.1006-7876.2011.08.010
- VernacularTitle:表现为早发缺血性卒中的Fabry病二例
- Author:
Xiaoxuan LI
;
Lu WANG
;
Yun ZHANG
;
Wei ZHANG
;
Daojun HONG
;
Zhaoxia WANG
;
Huizhen GAO
;
Yun YUAN
- Publication Type:Journal Article
- Keywords:
Stroke;
Fabry disease;
alpha-Galactosidase
- From:
Chinese Journal of Neurology
2011;44(8):550-553
- CountryChina
- Language:Chinese
-
Abstract:
Objective To report 2 cases of Fabry disease with early-onset ischemic stroke and investigate the clinical and image features. Methods The 2 patients developed dizziness, diplopia and progressive memory decline at 32 and 25 years of age respectively. The α-galactosidase A (GLA)activity was 4. 3 U in case 1 and 1. 0 U in case 2 ( normal range 100-500 U). Skin biopsy showed numerous membrane bounded osmiophilic laminar material in vascular smooth muscle cells and endothelial cells. GLA gene analysis revealed GLA exon 7 1033-1034 TC del in case 1 and GLA exon 3 466G > A in case 2. The 2 patients were evaluated by Mainz severity score index (MSSI) and cranial MRI. Results The general MSSI was 32 in case 1 and 16 in case 2, with the highest score of neurological score ( 11 and 14). Both cases showed multifocal infarcts in bilateral cerebellum, occipital lobe, basal ganglia, which were hypointensity on T1 WI and hyperintensity on T2WI. There were hyperintensity changes in the pulvinar and basal ganglia on T1 WI in case 2. Conclusions Cerebral ischemic stroke could appear as initial symptoms in Fabry disease,which predominantly involved the posterior circulation. There might be no dilation of basal-vertebral artery.