Sneddon综合征1例并文献复习  

A Case of Sneddon Syndrome and Literature Review

作　　者：郭鸣[1,2] 张通[1,2] 李冰洁[1,2] 赵军[1,2] 刘凯[1,2] GUO Ming;ZHANG Tong;LI Bingjie;ZHAO Jun;LIU Kai(School of Rehabilitation,Capital Medical University,Beijing 100068,China;Department of Neurology,China Rehabilitation Research Center(Beijing Boai Hospital),Beijing 100068,China)

机构地区：[1]首都医科大学康复医学院,北京100068 [2]中国康复研究中心(北京博爱医院)神经内科

出　　处：《中国卒中杂志》2024年第9期1058-1065,共8页Chinese Journal of Stroke

摘　　要：Sneddon综合征是一种罕见的神经皮肤综合征,主要累及中小动脉,典型临床表现为广泛的皮肤网状青斑,伴随反复发作的缺血性卒中。本病例是一位青年女性,在近10年多次经历小卒中事件,并伴有脊髓蛛网膜下腔出血和多发颅内动脉瘤。基因检测提示腺苷脱氨酶2(adenosine deaminase 2,ADA2)基因杂合突变(c.1240G>A)。患者曾接受氯吡格雷抗血小板聚集治疗,后停止该治疗。对于卒中反复发作的青年患者,医师应密切观察并详细询问皮肤病变情况,同时建议进行脑血管造影和基因检测,以便更全面地评估和管理这类病例。Sneddon syndrome is a rare neurocutaneous syndrome that mainly involves the small and medium arteries.It is clinically characterized by widespread livedo reticularis with recurrent ischemic strokes.This case described a young woman who has suffered multiple minor strokes over the past decade,accompanied by spinal subarachnoid hemorrhage and multiple intracranial aneurysms.Genetic testing revealed a heterozygous mutation in the adenosine deaminase 2(ADA2)(c.1240G>A).The patient had been treated with clopidogrel for antiplatelet aggregation but later discontinued the therapy.For young patients with a history of recurrent strokes,physicians should closely observe and inquire about the skin lesions in detail and recommend cerebral angiography and genetic testing to more comprehensively assess and manage such cases.

关 键 词：Sneddon综合征 网状青斑 动脉瘤 腺苷脱氨酶2 脑血管造影 

分 类 号：R74[医药卫生—神经病学与精神病学]