Yang Ling, Guan Wanzhen, Liu Haimei, Li Yifan, Gong Yinv, Lv Qianying, Zeng Qiaoqian, Wei Qijiao, Zhang Xiaomei, Chen Weiming, Chen Chao, Sun Li
Department of Rheumatology, Children's Hospital of Fudan University, Shanghai, China.
Department of Rheumatology, Children's Hospital of Fudan University at Xiamen (Xiamen Children's Hospital), Fujian, China.
Front Pediatr. 2024 May 30;12:1409950. doi: 10.3389/fped.2024.1409950. eCollection 2024.
Juvenile dermatomyositis (JDM) is a systemic autoimmune disease primarily involving the muscles and skin; it can also affect the central nervous system (CNS). The relevant literature provides limited information regarding the characteristics of JDM with CNS involvement.
We reviewed patients with JDM who were hospitalized at our center between January 2016 and August 2023, with a focus on those with CNS involvement. The aim was to provide detailed case reports on these patients, and to summarize the relevant literature about the characteristics of similar cases.
Among 193 hospitalized patients with JDM, two (1.03%) had CNS involvement. Two patients, a 5.5-year-old girl and an 11-year-old boy, were admitted with severe proximal muscle weakness and seizures, and presented with active cutaneous vasculitis. Both were ultimately diagnosed with JDM, with CNS involvement. Both patients had confirmed presence of anti-NXP2 antibody through myositis-specific antibody analysis. Additionally, they all exhibited hyperferritinemia and thrombocytopenia. Salvage therapies like intravenous methylprednisolone (IVMP) pulse therapy and/or plasma exchange were administered successfully. At final follow-up, both patients had achieved complete clinical response and full neurological recovery. Our literature review identified nine similar case studies. CNS involvement usually occurred within the first 10 months of the disease course, and most of these patients had fatal outcomes, with a mortality rate of 66.6% (6/9). Including the two patients described herein, the median age for disease onset is 10.5 years (range 4-17 years), and the male: female ratio is 6:5. Seizures are the most common neurological symptom, accompanied by active cutaneous vasculitis. The brain biopsies showed two distinct pathological presentations: one was central nervous system vasculitis, and the other was cerebral macrophage activation syndrome.
CNS involvement is a rare but life-threatening JDM complication. Herein, our cases and the literature indicate that it typically occurs within the first 10 months of the disease course and manifests as seizures, often accompanied by active cutaneous vasculitis, with fatal outcomes. Timely implementation of salvage therapies, like IVMP pulse therapy and plasma exchange, may significantly impact patient outcomes.
幼年皮肌炎（JDM）是一种主要累及肌肉和皮肤的系统性自身免疫性疾病；它也可影响中枢神经系统（CNS）。相关文献中关于合并CNS受累的JDM特征的信息有限。
我们回顾了2016年1月至2023年8月在本中心住院的JDM患者，重点关注合并CNS受累的患者。目的是提供这些患者的详细病例报告，并总结关于类似病例特征的相关文献。
在193例住院的JDM患者中，2例（1.03%）合并CNS受累。两名患者，一名5.5岁女孩和一名11岁男孩，因严重近端肌无力和癫痫入院，并伴有活动性皮肤血管炎。两人最终均被诊断为合并CNS受累的JDM。通过肌炎特异性抗体分析，两名患者均确诊存在抗NXP2抗体。此外，他们均表现为高铁蛋白血症和血小板减少。成功实施了如静脉注射甲泼尼龙（IVMP）冲击治疗和/或血浆置换等挽救治疗。在最后一次随访时，两名患者均实现了完全临床缓解和神经功能完全恢复。我们的文献综述确定了9个类似的病例研究。CNS受累通常发生在病程的前10个月内，这些患者大多预后不良，死亡率为66.6%（6/9）。包括本文所述的两名患者，发病的中位年龄为10.5岁（范围4 - 17岁），男女比例为6:5。癫痫是最常见的神经症状，伴有活动性皮肤血管炎。脑活检显示两种不同的病理表现：一种是中枢神经系统血管炎，另一种是脑巨噬细胞活化综合征。
CNS受累是一种罕见但危及生命的JDM并发症。在此，我们的病例和文献表明，它通常发生在病程的前10个月内，表现为癫痫，常伴有活动性皮肤血管炎，预后不良。及时实施如IVMP冲击治疗和血浆置换等挽救治疗可能会显著影响患者的预后。
