蛋白C、蛋白S联合缺陷合并心肌致密化不全致青年缺血性卒中1例

A case of ischemic stroke in a young adult caused by combined defects of protein C and protein S and noncompaction of the ventricular myocardium

青年缺血性卒中因其病因的多样性而受到越来越多关注。虽然动脉粥样硬化是青年卒中的最常见病因,但其他或不明病因也并不少见。文中报道1例暨南大学附属第一医院收治的病例,以提高临床医师对青年卒中的病因诊断的认识。患者为22岁男性,急性起病,根据临床表现、体格检查及头颅磁共振成像明确诊断为急性缺血性卒中。经积极查找病因,实验室及基因检测发现患者有遗传性易栓症(蛋白C、蛋白S缺乏),心脏磁共振成像检查发现患者心肌致密化不全。

Ischemic stroke in young adults has attracted more and more attention due to the diversity of its etiology.Although atherosclerosis is the most common cause of stroke in young adults,other or unknown causes are not uncommon.To improve clinicians′understanding of the etiological diagnosis of stroke in young adults,this article reports a case of ischemic stroke in the First Affiliated Hospital of Jinan University.The patient was a 22-year-old male with acute onset who was diagnosed with acute ischemic stroke based on clinical presentation,physical examination,and magnetic resonance imaging of the brain.After actively searching for the cause,laboratory and genetic tests revealed that the patient had inherited thrombophilia(protein C and protein S deficiency),and cardiac magnetic resonance imaging examination found that the patient had noncompaction of the ventricular myocardium.