中国当代儿科杂志2024，Vol.26Issue(9)：961-966,6.DOI:10.7499/j.issn.1008-8830.2401060
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
摘要
Abstract
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Key words
Progressive ossifying myositis/ACVR1 gene/Child引用本文复制引用
谢思琴,丁小芳,张兵,史凤霞,钟礼立,黄寒..ACVR1基因突变致进行性骨化性肌炎1例[J].中国当代儿科杂志,2024,26(9):961-966,6.基金项目
儿童呼吸病学湖南省重点实验室(2019)(2019TP1043). （2019）
