表现为反复高热和网状青斑及脑梗死的腺苷脱氨酶2缺乏症患者一例  

A case report of patient with deficiency of adenosine deaminase 2 presenting with recurrent hyperthermia,livedo reticularis,and cerebral infarction

作　　者：梅利平[1] 赵军[1] Mei Liping;Zhao Jun(Department of Neurology,China Rehabilitation Research Center(Beijing Boai Hospital),Beijing 100068,China)

机构地区：[1]中国康复研究中心(北京博爱医院)神经内科,100068

出　　处：《中国脑血管病杂志》2024年第8期541-544,共4页Chinese Journal of Cerebrovascular Diseases

摘　　要：腺苷脱氨酶2缺乏症(DADA2)是近年来发现的一种罕见的血管炎相关的单基因、常染色体隐性遗传病。作者报道了1例成年确诊的DADA2病例,患者在儿童期出现反复高热伴网状青斑,后多次发生脑梗死,遗留明显运动功能障碍、四肢肌张力增高、双足内翻畸形和步态异常。该患者经基因和血清腺苷脱氨酶检测确诊,应用抗肿瘤坏死因子治疗后1年未再复发卒中,经综合康复训练肌张力下降,异常步态改善,日常生活活动能力提高。通过报道该例病例,以期为神经内科医师在临床工作中提供部分借鉴。Deficiency of adenosine deaminase 2(DADA2)is a rare monogenic,autosomal recessive disorder associated with vasculitis.An adult case of DADA2 was reported.The patient developed high fever and livedo reticularis in childhood,followed by recurrent cerebral infarction.The patient was left with marked motor dysfunction hypermyotonia of the extremities,varus deformity of both feet,and abnormal gait.The diagnosis was confirmed by gene and serum adenosine deaminase tests.Stroke did not recur after anti-tumor necrosis factor treatment.After comprehensive rehabilitation training,the muscle tension decreased,the abnormal gait improved,and the ability of daily living improved.By reporting this case,we hope to provide some reference for neurology physicians in clinical work.

关 键 词：ADA2缺乏 卒中 网状青斑 基因变异 康复 

分 类 号：R596.1[医药卫生—内科学] R743.3[医药卫生—临床医学]