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.
XIE Si-Qin, DING Xiao-Fang, ZHANG Bing, SHI Feng-Xia, ZHONG Li-Li, HUANG Han.
A case of progressive ossifying myositis caused by ACVR1 gene mutation[J]. Chinese Journal of Contemporary Pediatrics. 2024, 26(9): 961-966 https://doi.org/10.7499/j.issn.1008-8830.2401060
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
参考文献
1 王梓媛, 李想, 任娜, 等. 进行性骨化性肌炎1例[J/OL]. 中国临床案例成果数据库, 2022, 4(1): E06987. DOI: 10.3760/cma.j.cmcr.2022.e06987. 2 汪兵, 孙健平, 吴永涛, 等. 儿童肘关节创伤后骨化性肌炎临床治疗策略分析[J]. 中国骨与关节杂志, 2021, 10(3): 175-180. DOI: 10.3969/j.issn.2095-252X.2021.03.004. 3 江载芳, 申昆玲, 沈颖, 等. 诸福棠实用儿科学[M]. 8版. 北京: 人民卫生出版社, 2015: 740-748. 4 朱佳, 柳媛, 杨洋, 等. 儿童进行性骨化性纤维发育不良关节病变15例临床分析[J]. 中华儿科杂志, 2017, 55(7): 519-522. PMID: 28728261. DOI: 10.3760/cma.j.issn.0578-1310.2017.07.010. 5 李红霞, 贾微微, 黄志芳, 等. 多发性肌炎和皮肌炎临床特点及治疗预后分析[J]. 人民军医, 2021, 64(9): 889-892. DOI: 10.3969/j.issn.1000-9736.2021.09.023. 6 黄剑浩, 韩奇秀, 周光新. 骨纤维结构不良的发病机制及治疗进展[J]. 中国骨与关节杂志, 2022, 11(8): 630-635. DOI: 10.3969/j.issn.2095-252X.2022.08.012. 7 包和婧, 朱立新, 杨联军, 等. 我国进行性骨化性肌炎104例文献分析[J]. 分子影像学杂志, 2015, 38(4): 365-368. DOI: 10.3969/j.issn.1674-4500.2015.04.19. 8 张浩, 金大地, 景宗森, 等. 进行性骨化性肌炎51例中国文献报道的综合分析[J]. 中国临床康复, 2002, 6(22): 3384-3385. DOI: 10.3321/j.issn:1673-8225.2002.22.049. 9 Zhang W, Zhang K, Song L, et al. The phenotype and genotype of fibrodysplasia ossificans progressiva in China: a report of 72 cases[J]. Bone, 2013, 57(2): 386-391. PMID: 24051199. PMCID: PMC3975922. DOI: 10.1016/j.bone.2013.09.002. 10 Hüning I, Gillessen-Kaesbach G. Fibrodysplasia ossificans progressiva: clinical course, genetic mutations and genotype-phenotype correlation[J]. Mol Syndromol, 2014, 5(5): 201-211. PMID: 25337067. PMCID: PMC4188166. DOI: 10.1159/000365770. 11 Sferopoulos NK, Kotakidou R, Petropoulos AS. Myositis ossificans in children: a review[J]. Eur J Orthop Surg Traumatol, 2017, 27(4): 491-502. PMID: 28275867. DOI: 10.1007/s00590-017-1932-x. 12 Shore EM, Xu M, Feldman GJ, et al. A recurrent mutation in the BMP type I receptor ACVR1 causes inherited and sporadic fibrodysplasia ossificans progressiva[J]. Nat Genet, 2006, 38(5): 525-527. PMID: 16642017. DOI: 10.1038/ng1783. 13 赵菲, 傅文贞, 何进卫, 等. 经典型进行性骨化性纤维结构不良症临床表现及ACVR1基因突变检测[J]. 中华骨质疏松和骨矿盐疾病杂志, 2016, 9(2): 178-182. DOI: 10.3969/j.issn.1674-2591.2016.02.012. 14 李波, 窦豆. 异位骨化形成机制的研究进展[J]. 生理科学进展, 2022, 53(2): 95-99. DOI: 10.3969/j.issn.0559-7765.2022.02.003. 15 邹月芬, 宗敏. 进行性骨化性肌炎的临床和影像学特点[J]. 中华放射学杂志, 2011, 45(11): 1070-1071. DOI: 10.3760/cma.j.issn.1005-1201.2011.11.019. 16 柳媛, 朱佳, 周志轩, 等. 进行性骨化性肌炎一例[J]. 中华儿科杂志, 2017, 55(3): 228-229. PMID: 28273711. DOI: 10.3760/cma.j.issn.0578-1310.2017.03.016. 17 于啸, 张欣贤, 辛涛, 等. 儿童进行性骨化性肌炎一例[J]. 放射学实践, 2019, 34(9): 1054-1055. DOI: 10.13609/j.cnki.1000-0313.2019.09.025. 18 Wang H, Nie P, Li Y, et al. MRI findings of early myositis ossificans without calcification or ossification[J]. Biomed Res Int, 2018, 2018: 4186324. PMID: 30255094. PMCID: PMC6140134. DOI: 10.1155/2018/4186324. 19 Lasry F, Touki A, Abkari A, et al. A rare cause of painful cervical swelling: myositis ossificans progressiva in childhood. Report of a case[J]. Joint Bone Spine, 2005, 72(4): 335-337. PMID: 16038847. DOI: 10.1016/j.jbspin.2003.09.013. 20 Pignolo RJ, Kaplan FS. Clinical staging of fibrodysplasia ossificans progressiva (FOP)[J]. Bone, 2018, 109: 111-114. PMID: 28943457. DOI: 10.1016/j.bone.2017.09.014. 21 Ben Hamida KS, Hajri R, Kedadi H, et al. Myositis ossificans circumscripta of the knee improved by alendronate[J]. Joint Bone Spine, 2004, 71(2): 144-146. PMID: 15050200. DOI: 10.1016/S1297-319X(03)00096-4. 22 Lin TY, Wu CC, Chiang FY, et al. Noninfectious painful neck mass mimicking malignancy in a child[J]. Head Neck, 2011, 33(5): 753-755. PMID: 20091682. DOI: 10.1002/hed.21329. 23 Pu C, Su Y. Are open surgery and total resection good choices for traumatic myositis ossificans in children?[J]. Int Orthop, 2021, 45(12): 3147-3154. PMID: 34559305. DOI: 10.1007/s00264-021-05225-9. 24 林楠, 高宁, 何巍. 双侧翼外肌进行性骨化性肌炎一例[J]. 中华口腔医学杂志, 2018, 53(7): 488-489. PMID: 29996370. DOI: 10.3760/cma.j.issn.1002-0098.2018.07.013. 25 Glaser DL, Kaplan FS. Treatment considerations for the management of fibrodysplasia ossificans progressiva[J]. Clin Rev Bone Miner Metab, 2005, 3(3-4): 243-250. DOI: 10.1385/BMM:3:3-4:243. 26 周青, 孟岩, 苏亮, 等. 进行性骨化性纤维发育不良一例临床特点和ACVR1基因突变检测[J]. 中华儿科杂志, 2008, 46(3): 215-219. PMID: 19099712. DOI: 10.3760/cma.j.issn.0578-1310.2008.03.113.
PDF(3425 KB)
