■青少年皮肌炎(JDM)是一种全身性自身免疫性疾病,主要累及肌肉和皮肤;它也会影响中枢神经系统(CNS)。相关文献提供了有关中枢神经系统受累的JDM特征的有限信息。
我们回顾了2016年1月至2023年8月在我们中心住院的JDM患者,重点关注中枢神经系统受累的患者。目的是提供这些患者的详细病例报告,并对类似案例的特点进行相关文献的总结。
■在193名JDM住院患者中,2例(1.03%)有中枢神经系统受累.两个病人,一个5.5岁的女孩和一个11岁的男孩,因严重的近端肌无力和癫痫发作而入院,并表现为活动性皮肤血管炎.两者最终都被诊断为JDM,中枢神经系统参与。通过肌炎特异性抗体分析,两名患者均已确认存在抗NXP2抗体。此外,他们都表现为高铁蛋白血症和血小板减少症。成功地施用了诸如静脉内甲基强的松龙(IVMP)脉冲疗法和/或血浆置换的挽救疗法。在最后的后续行动中,2例患者均获得完全临床缓解和完全神经系统恢复.我们的文献综述确定了九个类似的案例研究。中枢神经系统受累通常发生在病程的前10个月内,这些患者中的大多数都有致命的结果,死亡率为66.6%(6/9)。包括本文所述的两名患者,发病年龄中位数为10.5岁(范围4-17岁),男女比例为6:5。癫痫发作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。
■中枢神经系统受累是一种罕见但危及生命的JDM并发症。在这里,我们的病例和文献表明,它通常发生在疾病过程的前10个月内,并表现为癫痫发作,常伴有活动性皮肤血管炎,致命的结果。及时实施抢救治疗,比如IVMP脉冲疗法和血浆置换,可能会显著影响患者的预后。
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.