Recurrent infection triggered encephalopathy syndrome in a pediatric patient with RANBP2 mutation and severe acute respiratory syndrome coronavirus 2 infection.

IF 1.9 4区 医学 Q2 PEDIATRICS Pediatric Investigation Pub Date : 2023-11-19 eCollection Date: 2023-12-01 DOI:10.1002/ped4.12406
Jiaqi Li, Feng Huo, Shuo Wang, Yimu Fan, Jie Wu, Zhezhe Zhang, Shuangjun Liu, Quan Wang
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引用次数: 0

Abstract

Acute necrotizing encephalopathy (ANE), a fatal subtype of infection‐triggered encephalopathy syndrome (ITES), can be triggered by many systemic infections. RANBP2 gene mutations were associated with recurrent ANE.
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1例伴有RANBP2突变和严重急性呼吸综合征冠状病毒2感染的儿科患者反复感染引发脑病综合征
急性坏死性脑病(ANE)是感染引发脑病综合征(ITES)的一种致命亚型,可由许多全身性感染引发。RANBP2基因突变与复发性ANE相关。病例介绍:在这里我们报告一个1岁的女孩复发性ITES和RANBP2突变。她被诊断为流感相关脑病,并在首次发作时完全康复。患者感染严重急性呼吸综合征冠状病毒2型后出现癫痫发作,精神状态恶化。脑磁共振成像显示双侧丘脑和脑桥坏死病变。给予甲基强的松龙、免疫球蛋白和白细胞介素6抑制剂。出院时她的意识水平有所提高。报告了19例与2019冠状病毒病相关的ANE,其中22.2%的患者死亡,61.1%患有神经功能障碍。5例患者发现RANBP2基因突变,其中2例复发性ITES。结论:RANBP2突变患者有复发性ITES的风险,可能发展为ANE,复发后预后较差。
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来源期刊
Pediatric Investigation
Pediatric Investigation Medicine-Pediatrics, Perinatology and Child Health
CiteScore
3.30
自引率
0.00%
发文量
176
审稿时长
12 weeks
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