背景:抗合成酶综合征(ASS)是一组炎症性肌病中罕见的临床亚型,主要影响成年女性。与儿童ASS相关的危重疾病的实例甚至更罕见。
方法:我们报告了一个7岁男孩最终诊断为ASS的病例,合并纵隔气肿。他出现了持续12天的间歇性发烧,阵发性咳嗽11天,胸痛,和呼吸急促4天,促使我们入院.入院前胸部CT显示弥漫性纵隔气肿,颈部和双侧胸壁皮下积气,合并,肺不张,两肺的网状结节阴影,以及心包积液和双侧胸腔积液。实验室检查显示血清MP免疫球蛋白M(MP-IgM)和MP免疫球蛋白G(MP-IgG)阳性结果。患者最初被诊断为肺炎支原体(MP)感染,抗生素治疗3天后,病人的呼吸急促恶化。肌肉酶抗体测试的阳性结果包括抗PL-12抗体IgG,抗Jo-1抗体IgG,和抗RO-52抗体IgG。超声检查发现右肩中度积液,双侧肘部,和膝关节。在疾病发作后的第27天开始皮质类固醇脉冲治疗,持续了3天,然后再进行12天的序贯治疗。孩子在第43天出院,随后的随访显示,双肺的实变和间质病变均有显着改善。
结论:ASS在儿童中可能合并快速进展性间质性肺病(RPILD)和纵隔气肿。在MP爆发期间,及时识别并发的免疫异常至关重要,特别是当疾病在常规抗生素治疗无效的情况下表现出快速进展时。
BACKGROUND: Anti-synthetase syndrome (ASS) is a group of rare clinical subtypes within inflammatory myopathies, predominantly affecting adult females. Instances of critical illness associated with ASS in children are even rarer.
METHODS: We report the case of a 7-year-old boy finally diagnosed with ASS, combined with
pneumomediastinum. He presented with intermittent fever persisting for 12 days, paroxysmal cough for 11 days, chest pain, and shortness of breath for 4 days, prompting admission to our hospital. Pre-admission chest CT revealed diffuse
pneumomediastinum, subcutaneous pneumatosis in the neck and bilateral chest wall, consolidation, atelectasis, and reticular nodular shadowing in both lungs, as well as pericardial effusion and bilateral pleural effusions. Laboratory tests revealed a positive result for serum MP immunoglobulin M (MP-IgM) and MP immunoglobulin G (MP-IgG). The patient was initially diagnosed with mycoplasma pneumoniae (MP) infection, and following 3 days of antibiotic treatment, the patient\'s tachypnea worsened. Positive results in muscle enzyme antibody tests included anti-PL-12 antibody IgG, anti-Jo-1 antibody IgG, and anti-RO-52 antibody IgG. Ultrasonography detected moderate effusions in the right shoulder, bilateral elbow, and knee joints. Corticosteroids pulse therapy was initiated on the 27th day following disease onset, and continued for 3 days, followed by sequential therapy for an additional 12 days. The child was discharged on the 43rd day, and subsequent follow-up revealed a significant improvement in consolidation and interstitial lesions in both lungs.
CONCLUSIONS: ASS in children may combine with rapidly progressive interstitial lung disease (RPILD) and
pneumomediastinum. It is crucial to promptly identify concurrent immunologic abnormalities during the outbreak of MP, particularly when the disease exhibits rapid progression with ineffective conventional antibiotic therapy.