A case of progressive ossifying myositis caused by ACVR1 gene mutation
10.7499/j.issn.1008-8830.2401060
- VernacularTitle:ACVR1基因突变致进行性骨化性肌炎1例
- Author:
Si-Qin XIE
1
;
Xiao-Fang DING
;
Bing ZHANG
;
Feng-Xia SHI
;
Li-Li ZHONG
;
Han HUANG
Author Information
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
- Keywords:
Progressive ossifying myositis;
ACVR1 gene;
Child
- From:
Chinese Journal of Contemporary Pediatrics
2024;26(9):961-966
- CountryChina
- Language:Chinese
-
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.
