Boisclair Mélissa, Robitaille Charlotte, Budhram Adrian, Kunchok Amy, Chapdelaine Hugo, Létourneau-Guillon Laurent, Macaron Gabrielle, Larochelle Catherine
Department of Neurosciences, Centre Hospitalier de l'Université de Montréal (CHUM), Faculty of Medicine, Université de Montréal, Montreal, QC, Canada.
Department of Clinical Neurological Sciences, London Health Sciences Centre, Western University, London, ON, Canada.
Case Rep Neurol. 2024 May 3;16(1):122-128. doi: 10.1159/000539186. eCollection 2024 Jan-Dec.
We report a challenging case of autoimmune encephalitis in a patient with a thymoma harboring titin and acetylcholine receptor antibodies, who experienced multiple relapses despite thymectomy and aggressive first-line immunotherapy, and for whom GABA receptor antibodies were ultimately identified.
This 40-year-old man presented with headaches, weakness, diplopia, hearing loss, and seizures progressing to status epilepticus. Brain MRI showed multifocal cortical and subcortical T2/fluid attenuated inversion recovery hyperintense lesions without enhancement. Initial neural antibody testing identified only acetylcholine receptor and titin antibodies. He presented multiple severe relapses despite complete thymoma resection, intravenous methylprednisolone with immunoglobulins or plasmapheresis, and mycophenolate mofetil. Second-line immunotherapy with rituximab was successful to alleviate symptoms and normalize the EEG and MRI after identification of anti-GABA receptor antibodies on more comprehensive neural antibody testing for autoimmune encephalitis.
This case demonstrates the complexity and importance of identifying pathogenic antibodies and selecting 2nd line treatment accordingly in patients with autoimmune encephalitis when multiple antibodies coexist. Despite tumor resection, aggressive immunotherapy may be needed to prevent further deterioration in anti-GABA receptor encephalitis.
我们报告了一例具有挑战性的自身免疫性脑炎病例，患者患有胸腺瘤，携带肌联蛋白和乙酰胆碱受体抗体，尽管接受了胸腺切除术和积极的一线免疫治疗，但仍多次复发，最终确定其存在GABA受体抗体。
这名40岁男性患者出现头痛、乏力、复视、听力丧失，并进展为癫痫持续状态。脑部MRI显示多灶性皮质和皮质下T2/液体衰减反转恢复序列高信号病变，无强化。初始神经抗体检测仅发现乙酰胆碱受体和肌联蛋白抗体。尽管进行了胸腺瘤全切术、静脉注射甲泼尼龙联合免疫球蛋白或血浆置换以及霉酚酸酯治疗，他仍多次严重复发。在对自身免疫性脑炎进行更全面的神经抗体检测发现抗GABA受体抗体后，使用利妥昔单抗进行二线免疫治疗成功缓解了症状，并使脑电图和MRI恢复正常。
该病例表明，在多种抗体共存的自身免疫性脑炎患者中，识别致病抗体并据此选择二线治疗的复杂性和重要性。尽管进行了肿瘤切除，但可能仍需要积极的免疫治疗以防止抗GABA受体脑炎进一步恶化。
