IRCCS Ospedale Policlinico San Martino, Genova, Italy.
Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI) and Center of Excellence for Biomedical Research (CEBR), University of Genova, Genova, Italy.
Mult Scler. 2024 Nov;30(13):1692-1696. doi: 10.1177/13524585241261549. Epub 2024 Jul 30.
neuromyelitis optica spectrum disorder (NMOSD) is a rare autoimmune disease mainly affecting optic nerves and the spinal cord. Due to the potentially irreversible tissue damage, prevention of relapses is of utmost importance.
We describe the atypical clinical course and pathology results of a patient with anti-aquaporin-4 antibody (anti-AQP4-Ab)-associated NMOSD who developed aseptic meningitis followed by limbic-encephalitis-like presentation with extensive brain lesions upon treatment with rituximab and tocilizumab.
The patient developed subacute cognitive decline with magnetic resonance imaging (MRI) evidence of extensive brain white matter lesions. In the hypothesis of an opportunistic brain infection, she underwent brain biopsy of the temporal pole. Pathology results revealed typical NMOSD findings with complement activation, supporting the hypothesis of an atypical presentation of anti-AQP-Ab-associated NMOSD. Accordingly, treatment with the complement-targeting drug eculizumab was started, leading to a dramatic clinical and MRI improvement.
aseptic meningitis and limbic encephalitis could represent a rare phenotype of anti-AQP4-Ab-associated NMOSD.
视神经脊髓炎谱系疾病（NMOSD）是一种罕见的自身免疫性疾病，主要影响视神经和脊髓。由于潜在的不可逆转的组织损伤，预防复发至关重要。
我们描述了一例抗水通道蛋白 4 抗体（抗 AQP4-Ab）相关 NMOSD 患者的非典型临床病程和病理结果，该患者在接受利妥昔单抗和托珠单抗治疗后出现无菌性脑膜炎，随后出现边缘性脑炎样表现，并伴有广泛的脑部病变。
该患者出现亚急性认知能力下降，磁共振成像（MRI）显示广泛的脑白质病变。考虑到机会性脑部感染的可能性，她接受了颞极的脑部活检。病理结果显示典型的 NMOSD 表现，伴有补体激活，支持抗 AQP-Ab 相关 NMOSD 表现不典型的假说。因此，开始使用补体靶向药物依库珠单抗进行治疗，导致临床和 MRI 显著改善。
无菌性脑膜炎和边缘性脑炎可能代表抗 AQP4-Ab 相关 NMOSD 的一种罕见表型。
