由一种新的PROS1突变引起的遗传性蛋白S缺乏引起的复发性缺血性中风：一例报告。

IF 2.2 3区医学 Q3 CLINICAL NEUROLOGY

BMC Neurology Pub Date : 2025-08-13 DOI:10.1186/s12883-025-04355-6

Mei-Ying Huang, Ning Su, Ya-Ping Liu, Yi-Cheng Zhu

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引用次数: 0

摘要

背景：蛋白S缺乏症（Protein S deficiency， PSD）是由PROS1基因编码的蛋白S功能缺陷引起的遗传性血栓性疾病。PSD主要表现为静脉血栓栓塞，不被认为是动脉血栓形成的决定性原因。然而，有几例报告PSD患者缺血性脑卒中，并给予抗凝治疗。病例介绍：我们报告了一名在过去11年中患有4次缺血性中风的患者，尽管进行了二级预防，但仍复发。脑磁共振成像显示双侧基底节区、室旁区及左脑桥缺血性病变。在血栓筛查后，患者于1961年被诊断为遗传性PSD伴杂合PROS1C >a （p.A654D）突变。他接受了氯吡格雷和利伐沙班的有效治疗。结论：复发性缺血性脑卒中和有血栓事件家族史的患者应怀疑遗传性PSD。如果有证据强烈表明PSD与缺血性中风有关，则抗凝治疗是必要的。

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Recurrent ischemic strokes caused by hereditary protein S deficiency from a novel PROS1 mutation: a case report.

Background: Protein S deficiency (PSD) is an inherited thrombophilia caused by functional defects in protein S encoded by the PROS1 gene. Mainly manifesting as venous thromboembolism, PSD is not considered as a definitive cause of arterial thrombosis. However, there are several cases reporting ischemic stroke in patients with PSD, and anticoagulants were given as treatment.

Case presentation: We present a patient with four ischemic strokes during the past 11 years, which recurred despite secondary prevention. Brain magnetic resonance imaging showed ischemic lesions in bilateral basal ganglia and paraventricular regions, as well as the left pons. After thrombophilia screening, the patient was diagnosed with hereditary PSD with a heterozygous PROS1 c.1961 C > A (p.A654D) mutation. He was treated effectively with clopidogrel and rivaroxaban.

Conclusions: Hereditary PSD should be suspected in patients with recurrent ischemic strokes and a family history of thrombotic events. Anticoagulation treatment is warranted if evidence strongly suggests a contribution of PSD to ischemic strokes.

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来源期刊

BMC Neurology 医学-临床神经学

CiteScore

4.20

自引率

0.00%

发文量

428

审稿时长

3-8 weeks

期刊介绍： BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.