Zhu Guo-Qin, Hu Rong-Xuan, Peng Yan, Yao Yao, Li Guo-Min
Department of Nephrology, Rheumatology and Immunology, Childrens Hospital of Jiangnan University, Wuxi, Jiangsu, China.
Department of Nephrology, Rheumatology and Immunology, Wuxi Childrens Hospital, Wuxi, Jiangsu, China.
Front Immunol. 2025 Jul 8;16:1559825. doi: 10.3389/fimmu.2025.1559825. eCollection 2025.
Neuromyelitis optica spectrum disorder (NMOSD) is an immune-mediated, typically relapsing central nervous system demyelinating disorder characterized by optic neuritis (ON) and transverse myelitis (TM). While systemic or organ-specific autoimmune comorbidities are well-documented in 20-30% of adult NMOSD cases, such associations remain rarely reported in pediatric populations.
We present a 14-year-old girl with NMOSD coexisting with primary Sjögren's syndrome (pSS). At 11 years of age, she presented with acute right-sided headache, painful eye movements, and vision loss. Diagnostic workup confirmed AQP4-IgG seropositivity, ON, and corresponding T2-hyperintense lesions on optic nerve MRI, meeting 2023 Neuromyelitis Optica Study Group (NEMOS) revised recommendations. Acute-phase treatment included intravenous methylprednisolone and intravenous immunoglobulin, followed by maintenance therapy with oral prednisone and mycophenolate mofetil (MMF), with gradual prednisolone tapering. Right-eye vision normalized after intervention. Initial workup revealed positive antinuclear antibody (ANA), anti-Ro/SSA, anti-La/SSB, and elevated alanine aminotransferase (ALT)/aspartate aminotransferase (AST). Aged 12.5 years, labial salivary gland biopsy for persistent transaminitis showed focal lymphocytic sialadenitis (focus score ≥1 focus/4 mm²), satisfying the 2016 ACR/EULAR criteria for pSS. At 13.5 years, MMF was switched to tacrolimus due to persistent ALT/AST elevation, leading to biochemical normalization. No NMOSD relapses occurred post-initial episode.
This case highlights the rare but clinically important co-occurrence of NMOSD and pSS in children. Routine screening for autoantibodies (e.g., ANA, organ-specific antibodies) in pediatric NMOSD is warranted to detect comorbid autoimmune disorders. Targeted therapy for concurrent connective tissue diseases can optimize clinical outcomes and quality of life.
视神经脊髓炎谱系障碍（NMOSD）是一种免疫介导的、通常为复发性的中枢神经系统脱髓鞘疾病，其特征为视神经炎（ON）和横贯性脊髓炎（TM）。虽然在20%-30%的成年NMOSD病例中，系统性或器官特异性自身免疫性合并症有充分记录，但在儿科人群中，此类关联仍鲜有报道。
我们报告一名14岁患有NMOSD并合并原发性干燥综合征（pSS）的女孩。11岁时，她出现急性右侧头痛、眼球运动疼痛和视力丧失。诊断检查证实水通道蛋白4-IgG血清阳性、视神经炎以及视神经MRI上相应的T2高信号病变，符合2023年视神经脊髓炎研究组（NEMOS）修订建议。急性期治疗包括静脉注射甲泼尼龙和静脉注射免疫球蛋白，随后口服泼尼松和霉酚酸酯（MMF）进行维持治疗，并逐渐减少泼尼松剂量。干预后右眼视力恢复正常。初始检查显示抗核抗体（ANA）、抗Ro/SSA、抗La/SSB阳性，丙氨酸转氨酶（ALT）/天冬氨酸转氨酶（AST）升高。12.5岁时，因持续性转氨酶升高进行唇腺活检，显示局灶性淋巴细胞性涎腺炎（灶性评分≥1灶/4mm²），符合2016年美国风湿病学会/欧洲抗风湿病联盟pSS标准。13.5岁时，由于ALT/AST持续升高，MMF换为他克莫司，生化指标恢复正常。初始发作后未发生NMOSD复发。
本病例突出了儿童中NMOSD和pSS罕见但临床上重要的共现情况。对于儿科NMOSD患者，有必要常规筛查自身抗体（如ANA、器官特异性抗体）以检测合并的自身免疫性疾病。针对并发结缔组织疾病的靶向治疗可优化临床结局和生活质量。
