Mahesan Aakash, Rohil Aradhana, Jauhari Prashant, Tripathi Madhavi, Chakrabarty Biswaroop, Kumar Atin, Gulati Sheffali
Centre of Excellence & Advanced Research for Childhood Neurodevelopmental Disorders, Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, India.
Ann Indian Acad Neurol. 2024 Sep 1;27(5):576-579. doi: 10.4103/aian.aian_149_24. Epub 2024 Oct 8.
Immune-mediated epilepsy (IME) constitutes a substantial proportion of drug-refractory epilepsies. Rapid diagnosis and prompt immunosuppression are required along with antiseizure medications (ASMs). Here we report three unrelated children who presented with fever, encephalopathy, and refractory epilepsy and subsequently tested positive for rare intraneuronal and surface receptor antibodies, namely, contactin-associated protein like 2 (CASPR2), glutamic acid decarboxylase (GAD65), and paraneoplastic antigen Ma2 (PNMA2). In all of them, brain magnetic resonance imaging (MRI) was noncontributory. Electroencephalography showed nonspecific interictal epileptic discharges. F-18 fluorodeoxyglucose (FDG) positron emission tomography (PET) brain scan revealed abnormality in metabolic pattern with hypermetabolism in basal ganglia, thalami, frontotemporal cortices, and cerebellar hemispheres, consistent with autoimmune encephalitis. Immunosuppression was initiated along with ASMs. Complete seizure freedom was achieved in GAD65 antibody IME and >50% seizure reduction in CASPR2 and PNMA2 antibody IME. A variable degree of behavioral problems persisted in all. Early immunosuppression is warranted in IME, but does not universally guarantee a complete response.
免疫介导性癫痫（IME）在药物难治性癫痫中占相当大的比例。除抗癫痫药物（ASM）外，还需要快速诊断并及时进行免疫抑制治疗。在此，我们报告3例无血缘关系的儿童，他们出现发热、脑病和难治性癫痫，随后检测出罕见的神经元内和表面受体抗体呈阳性，即接触蛋白相关蛋白样2（CASPR2）、谷氨酸脱羧酶（GAD65）和副肿瘤抗原Ma2（PNMA2）。他们所有人的脑部磁共振成像（MRI）均无异常发现。脑电图显示非特异性发作间期癫痫样放电。F-18氟脱氧葡萄糖（FDG）正电子发射断层扫描（PET）脑部扫描显示代谢模式异常，基底神经节、丘脑、额颞叶皮质和小脑半球代谢亢进，符合自身免疫性脑炎表现。在使用ASM的同时开始免疫抑制治疗。GAD65抗体介导的IME实现了完全无癫痫发作，CASPR2和PNMA2抗体介导的IME癫痫发作减少>50%。所有人均持续存在不同程度的行为问题。IME需要早期进行免疫抑制治疗，但并不能普遍保证完全缓解。
