Fulminant bilateral cerebral infarction caused by paradoxical embolism in a patient with protein S Ala525Val substitution.
Fulminant bilateral cerebral infarction caused by paradoxical embolism in a patient with protein S Ala525Val substitution.
复制标题
蛋白质 S Ala525Val 替代患者因反常栓塞引起暴发性双侧脑梗死。
DOI：
10.1111/ncn3.156
复制
发表时间：
2015
影响因子：
0.4
通讯作者：
Kitazono T
中科院分区：
文献类型：
--
作者：
Yoshikawa Y;Kitayama J;Ishikawa H;Nakamura A;Taniguchi F;Morishita E;Ago T;Nakane H;Kitazono T
我们报告一位42岁女性，在双侧大脑中动脉区域发生突发性爆发性脑梗塞，导致癫痫持续状态和意识水平下降。检查显示右比目鱼肌静脉血栓和卵圆孔未闭，但无明显栓塞源，如房颤或颈动脉或脑动脉粥样硬化病变。凝血试验显示游离蛋白S（25%）和总蛋白S（52%）水平降低，蛋白S活性降低（15%）。患者被诊断为脑梗死，原因是反常栓塞和I型蛋白S缺乏。DNA测序证实了PROS1基因中一个新的点突变，导致氨基酸替换，Ala525Val。值得注意的是，这种蛋白S突变可引起血栓形成倾向和脑梗死。
We report a 42‐year‐old woman who developed sudden fulminant cerebral infarction in the bilateral middle cerebral artery territories, causing status epilepticus and a decreased level of consciousness. Investigation showed thrombus in the right soleus vein and a patent foramen ovale, but no obvious embolic source, such as atrial fibrillation or a carotid or cerebral artery atherosclerotic lesion. Blood coagulation tests showed decreased levels of free protein S (25%) and total protein S (52%), and decreased protein S activity (15%). The patient was diagnosed with cerebral infarction as a result of paradoxical embolism, and type I protein S deficiency. DNA sequencing identified a novel point mutation in thePROS1gene, leading to the amino acid substitution, Ala525Val. It should be noted that this protein S mutation can cause thrombophilia and cerebral infarction.