Yang Fu-Chi, Hsu Chang-Hung, Lin Jiann-Chyun, Chen Cheng-Yu, Lee Jiunn-Tay
Department of Neurology, Tri-Service General Hospital, National Defense Medical Center, No. 325, Section 2, Cheng-Kung Road, Neihu 114, Taipei, Taiwan, ROC.
Blood Coagul Fibrinolysis. 2008 Sep;19(6):601-4. doi: 10.1097/MBC.0b013e3283009c7c.
Hereditary protein C deficiency is inherited primarily as an autosomal dominant trait with incomplete penetrance. Arterial thrombosis, especially of the intracranial arteries, due to this deficiency is relatively rare. A 31-year-old man was admitted to our department because of sudden onset of neurological symptoms. Magnetic resonance imaging of the brain disclosed an acute ischemic infarction of the area supplied by the left middle cerebral artery. Protein C antigen was 40.7% (77-129%) and protein C activity was 46.3% (70-140%). No other possible associated causes of stroke were present. A survey of his relatives for protein C deficiency showed this deficiency in his mother, brother, sister and nephews. Protein C concentrations should be determined in cases of ischemic stroke in all young patients with no other major risk factors. Once protein C deficiency is detected, a search for protein C deficiency in the patient's relatives should be performed to prevent the occurrence of ischemic strokes.
遗传性蛋白C缺乏症主要作为一种常染色体显性性状遗传，具有不完全外显率。由于这种缺乏导致的动脉血栓形成，尤其是颅内动脉血栓形成相对罕见。一名31岁男性因突发神经系统症状入住我科。脑部磁共振成像显示左侧大脑中动脉供血区域急性缺血性梗死。蛋白C抗原为40.7%（77 - 129%），蛋白C活性为46.3%（70 - 140%）。不存在其他可能导致中风的相关原因。对其亲属进行的蛋白C缺乏症调查显示，他的母亲、兄弟、姐妹和侄子均存在这种缺乏症。对于所有无其他主要危险因素的年轻缺血性中风患者，均应测定蛋白C浓度。一旦检测到蛋白C缺乏，应在患者亲属中寻找蛋白C缺乏症，以预防缺血性中风的发生。
