Rich C, Gill J C, Wernick S, Konkol R J
Department of Neurology, Medical College of Wisconsin, Milwaukee.
Stroke. 1993 Apr;24(4):603-5. doi: 10.1161/01.str.24.4.603.
Inherited protein S deficiency has been associated with an increased risk of thromboembolic disease. It is possible that such a coagulopathy could predispose children to the development of strokes by permitting clot formation in response to stimuli that ordinarily would be insufficient to cause thrombus formation.
We evaluated a previously well 4-year-old boy who developed cerebral venous thrombosis after suffering minor head trauma. Crossed-immunoelectrophoresis of his plasma showed a marked decrease of the free, active form of protein S. Family studies revealed that the patient's father and other paternal relatives had a similar abnormality of protein S.
We suggest that the cerebral venous thrombosis in this child was initially precipitated by minor head trauma and pathological thrombus formation was then potentiated by inherited protein S deficiency. This case extends the clinical spectrum for protein S deficiency and emphasizes the importance of evaluating family members to establish a specific diagnosis and therapeutic intervention.
遗传性蛋白S缺乏与血栓栓塞性疾病风险增加有关。这种凝血病有可能使儿童在面对通常不足以导致血栓形成的刺激时，因允许血栓形成而易于发生中风。
我们评估了一名此前健康的4岁男孩，他在轻微头部外伤后发生了脑静脉血栓形成。对其血浆进行交叉免疫电泳显示，游离的活性蛋白S形式显著减少。家族研究表明，患者的父亲及其他父系亲属有类似的蛋白S异常。
我们认为，该患儿的脑静脉血栓形成最初由轻微头部外伤引发，随后遗传性蛋白S缺乏增强了病理性血栓形成。本病例扩展了蛋白S缺乏的临床谱，并强调了评估家庭成员以确立明确诊断和进行治疗干预的重要性。
