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当孩子拒绝玩耍时:一种罕见的肌病。

When a Child Refuses to Play: A Rare Myopathy.

作者信息

Condessa Luzia, Dias Susana, Moura Antunes Sofia, Martins Mafalda, Madureira Inês

机构信息

Pediatrics, Hospital de Cascais Dr. José de Almeida, Lisbon, PRT.

Pediatric Rheumatology, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central, Lisboa, PRT.

出版信息

Cureus. 2024 Sep 1;16(9):e68372. doi: 10.7759/cureus.68372. eCollection 2024 Sep.

DOI:10.7759/cureus.68372
PMID:39355458
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11443743/
Abstract

Idiopathic inflammatory myopathies (IIM) are a rare group of systemic diseases characterized by progressive proximal muscle weakness and skeletal muscle inflammation. We describe a clinical report of a seven-year-old boy presenting with myalgia and proximal muscle weakness beginning three weeks earlier, with laboratory, MRI, and muscle biopsy findings consistent with IIM. The patient was treated with corticosteroids, methotrexate, immunoglobulin, and intensive motor rehabilitation, with favorable evolution. Diagnosis of Juvenile Polymyositis was confirmed. Three years later, we assisted a relapse of muscle weakness and muscle cytolysis with the onset of bilateral eyelid skin microulcers compatible with dermatomyositis. This report intends to highlight the importance of early diagnosis and treatment in IIM due to the significant burden associated with this group of diseases. In this case, the late onset of the skin lesion contributed to the challenge in this diagnosis.

摘要

特发性炎性肌病(IIM)是一组罕见的系统性疾病,其特征为进行性近端肌无力和骨骼肌炎症。我们描述了一例临床报告,一名7岁男孩在3周前开始出现肌痛和近端肌无力,实验室检查、MRI及肌肉活检结果均符合IIM。该患者接受了皮质类固醇、甲氨蝶呤、免疫球蛋白治疗及强化运动康复治疗,病情进展良好。确诊为幼年型多发性肌炎。三年后,我们发现患者肌无力和肌肉溶解复发,并出现了与皮肌炎相符的双侧眼睑皮肤微溃疡。本报告旨在强调IIM早期诊断和治疗的重要性,因为这组疾病会带来巨大负担。在该病例中,皮肤病变出现较晚给诊断带来了挑战。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/94d69141905c/cureus-0016-00000068372-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/2b6b154e7454/cureus-0016-00000068372-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/0210b464244f/cureus-0016-00000068372-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/94d69141905c/cureus-0016-00000068372-i03.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/2b6b154e7454/cureus-0016-00000068372-i01.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/0210b464244f/cureus-0016-00000068372-i02.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4097/11443743/94d69141905c/cureus-0016-00000068372-i03.jpg

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1
When a Child Refuses to Play: A Rare Myopathy.当孩子拒绝玩耍时:一种罕见的肌病。
Cureus. 2024 Sep 1;16(9):e68372. doi: 10.7759/cureus.68372. eCollection 2024 Sep.
2
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[Dermatomyositis and polymyositis: clinical aspects and treatment].[皮肌炎和多发性肌炎:临床特点与治疗]
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本文引用的文献

1
Polymyositis and dermatomyositis - challenges in diagnosis and management.多发性肌炎和皮肌炎——诊断与管理中的挑战
J Transl Autoimmun. 2019 Oct 8;2:100018. doi: 10.1016/j.jtauto.2019.100018. eCollection 2019 Dec.
2
Comparison of the 2017 EULAR/ACR criteria with Bohan and Peter criteria for the classification of idiopathic inflammatory myopathies.比较 2017 年 EULAR/ACR 标准与 Bohan 和 Peter 标准在特发性炎性肌病分类中的应用。
Clin Rheumatol. 2019 Jul;38(7):1931-1934. doi: 10.1007/s10067-019-04512-6. Epub 2019 Mar 22.
3
Fashionably Late: A Case of Delayed Cutaneous Manifestations in Juvenile Dermatomyositis.
姗姗来迟:一例青少年皮肌炎的延迟皮肤表现病例
J Clin Med Res. 2018 Nov;10(11):848-852. doi: 10.14740/jocmr3547w. Epub 2018 Oct 9.
4
Juvenile Idiopathic Inflammatory Myopathies.幼年特发性炎性肌病
Pediatr Clin North Am. 2018 Aug;65(4):739-756. doi: 10.1016/j.pcl.2018.04.006.
5
Treatment of inflammatory myopathies.炎症性肌病的治疗。
Expert Rev Clin Immunol. 2018 Jul;14(7):607-621. doi: 10.1080/1744666X.2018.1491307. Epub 2018 Jul 3.
6
Using 4+ to grade near-normal muscle strength does not improve agreement.使用4+来分级接近正常的肌肉力量并不能提高一致性。
Chiropr Man Therap. 2017 Oct 10;25:28. doi: 10.1186/s12998-017-0159-6. eCollection 2017.
7
A Comprehensive Overview on Myositis-Specific Antibodies: New and Old Biomarkers in Idiopathic Inflammatory Myopathy.特发性炎性肌病中肌炎特异性抗体的全面概述:新的和旧的生物标志物
Clin Rev Allergy Immunol. 2017 Feb;52(1):1-19. doi: 10.1007/s12016-015-8510-y.
8
Myositis autoantibodies and clinical phenotypes.肌炎自身抗体与临床表型。
Auto Immun Highlights. 2014 Aug 23;5(3):69-75. doi: 10.1007/s13317-014-0060-4. eCollection 2014 Dec.
9
Incidence and prevalence of inflammatory myopathies: a systematic review.炎性肌病的发病率和患病率:系统评价。
Rheumatology (Oxford). 2015 Jan;54(1):50-63. doi: 10.1093/rheumatology/keu289. Epub 2014 Jul 26.
10
Developments in the classification and treatment of the juvenile idiopathic inflammatory myopathies.幼年特发性关节炎分类和治疗的进展。
Rheum Dis Clin North Am. 2013 Nov;39(4):877-904. doi: 10.1016/j.rdc.2013.06.001. Epub 2013 Sep 19.