ACVR1基因突变致进行性骨化性肌炎1例  

A case of progressive ossifying myositis caused by ACVR1 gene mutation

作　　者：谢思琴 丁小芳 张兵[1] 史凤霞 钟礼立[1] 黄寒[1] XIE Si-Qin;DING Xiao-Fang;ZHANG Bing;SHI Feng-Xia;ZHONG Li-Li;HUANG Han(Department of Pediatrics,Hunan Normal University First Affiliated Hospital/Hunan Provincial People's Hospital,Changsha 410005,China)

机构地区：[1]湖南师范大学第一附属医院/湖南省人民医院儿科,湖南长沙410005 [2]湖南师范大学第一附属医院/湖南省人民医院放射科,湖南长沙410005

出　　处：《中国当代儿科杂志》2024年第9期961-966,共6页Chinese Journal of Contemporary Pediatrics

基　　金：儿童呼吸病学湖南省重点实验室(2019)(2019TP1043)。

摘　　要：男性患儿,2岁10个月,因发现颈胸部多发包块3月余就诊。患儿既往步态不稳,摔跤后受伤部位可见硬包块,可自行缓解。最近因外伤后发现后颈部有一包块,突出皮面,伴关节活动受限,逐渐发现左侧颈部、背部平肩胛下角处、肩胛窝、左侧腋中线处均有新发包块。2个月前磁共振成像检查显示双侧后颈部、背部肌肉弥漫性T1WI低信号、T2WI高信号;CT扫描显示为肌肉肿胀,部分肌肉内见片状低密度及多发结节样骨化高密度。基因检测结果提示ACVR1基因突变,最终该患儿诊断为进行性骨化性肌炎。该文对1例进行性骨化性肌炎患儿的病因、诊断及治疗进行归纳总结,为临床医生诊治该罕见疾病提供参考。A 2-year-and-10-month-old boy presented with multiple masses in the neck and chest for over 3 months.The child had a history of unstable walking,with hard lumps visible at the injury sites after falls,which would resolve on their own.Following a recent injury,a mass was discovered in the posterior neck,protruding above the skin surface and accompanied by limited joint movement.Gradually,new masses were found on the left side of the neck,back near the scapular lower angle,in the scapular fossa,and along the left axillary midline.Magnetic resonance imaging examination showed diffuse low signal on T1-weighted images and high signal on T2-weighted images in the bilateral posterior neck and back muscles two months ago.A CT scan revealed muscle swelling,with areas of patchy low density and multiple nodular high-density ossifications within some muscles.Genetic testing results indicated a mutation in the ACVR1 gene,leading to the final diagnosis of progressive ossifying myositis in this patient.This article summarizes the etiology,diagnosis,and treatment of one case of progressive ossifying myositis,providing a reference for clinicians.

关 键 词：进行性骨化性肌炎 ACVR1基因 儿童 

分 类 号：R725.9[医药卫生—儿科]