CALR基因突变引起的原发性血小板增多症致颅内多发静脉窦血栓形成1例  

A case of multiple intracranial venous sinus thrombosis caused by primary thrombocythemia with CALR gene mutation

作　　者：龚小沉 杨毅 李肇坤 邹新宇 左家财 唐宇凤 GONG Xiaochen;YANG Yi;LI Zhaokun;ZOU Xinyu;ZUO Jiacai;TANG Yufeng(Department of Neurology,Mianyang Central Hospital,School of Medicine,University of Electronic Science and Technology of China,Mianyang 621000,China)

机构地区：[1]电子科技大学医学院附属绵阳医院,绵阳市中心医院神经内科,绵阳621000

出　　处：《中国神经精神疾病杂志》2025年第3期165-168,共4页Chinese Journal of Nervous and Mental Diseases

基　　金：四川省医学会基金项目(编号:S21023)。

摘　　要：报道1例钙网蛋白(calreticulin,CALR)基因突变引起的原发性血小板增多症致颅内多发静脉窦血栓形成的诊治过程和转归。患者为39岁女性,以头痛、言语不清及肢体无力为主要表现,查体可见言语欠清晰,构音障碍,左侧肢体肌力下降等体征;在抗凝治疗基础上行机械取栓、静脉窦内接触性溶栓、去骨瓣减压、针对病因予以降细胞治疗;治疗后静脉窦完全再通,最终预后良好。CALR基因突变引起的原发性血小板增多症所致颅内静脉窦血栓形成尚无相关文献报道,本病例的诊疗策略为临床类似病例的识别与治疗提供参考。A case of multiple intracranial venous sinus thrombosis caused by a calreticulin(CALR)gene mutation in essential thrombocythemia is reported including the diagnosis,treatment process and outcome.The patient was a 39-year-old female presenting with headache,slurred speech and limb weakness.Physical examination revealed unclear speech,dysarthria and decreased muscle strength in the left limb.On the basis of anticoagulation therapy,mechanical thrombectomy,intrasinus contact thrombolysis,decompressive craniectomy and cytoreductive therapy targeting the cause were performed.After treatment,the venous sinuses were completely recanalized and the prognosis was good.There are no relevant literature reports on intracranial venous sinus thrombosis caused by CALR gene mutation in essential thrombocythemia.The diagnosis and treatment strategy of this case provide a reference for the identification and treatment of similar cases in clinical practice.

关 键 词：CALR基因突变 原发性血小板增多症 颅内静脉窦血栓形成 机械取栓 接触性溶栓 

分 类 号：R743.9[医药卫生—神经病学与精神病学]