表现为早发缺血性卒中的Fabry病二例

Clinical and magnetic resonance imaging studies of Anderson-Fabry disease： 2 cases report

目的报道以早发缺血性卒中为主要表现的2例Fabry病，分析其卒中表现规律和影像学改变特点。方法2例Fabry病患者分别在32岁和25岁出现头晕和突发视物成双，伴随记忆力下降。α-半乳糖苷酶活性在例1为4．3U，例2为1．0U（正常值100～500U）。皮肤病理检查发现血管平滑肌细胞和内皮细胞内充满膜性包裹的板层样小体。α-半乳糖苷酶基因检查显示例1的7号外显子存在1033—1034TCdel突变，而例2存在3号外显子C．466G〉A突变。对2例患者进行美茵滋严重度评分（MSSI）和头MRI检查。结果例1的MSSI总分为32，其中神经系统评分最高（11分），例2的总分为16，其中神经系统评分最高（14分）。MRI均表现为双侧小脑、枕叶、基底节区散在分布的长T1、长T2病灶，2例的MRA和CT血管成像检查没有发现血管扩张。例2的头颅MRI出现双侧丘脑枕部T1高信号。结论卒中可以作为Fabry病首发症状出现，缺血损害以后循环为主。椎基底动脉可以无扩张改变。

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 T1WI and hyperintensity on T2WI. There were hyperintensity changes in the pulvinar and basal ganglia on T1WI 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.