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首页> 外文期刊>Neuropediatrics >Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: A case series and discussion of epileptogenesis in FIRES
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Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: A case series and discussion of epileptogenesis in FIRES

机译：没有可检测的自身抗体和免疫治疗反应的发热感染相关性癫痫综合征：FIRES癫痫发生的病例系列和讨论

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Febrile infection-related epilepsy syndrome (FIRES) is a severe postinfectious epileptic encephalopathy in previously healthy children and has three phases: the initial phase with a simple febrile infection, a few days later the acute phase characterized by a peracute onset of highly recurrent seizures or refractory status epilepticus often with no more fever and generally without additional neurological features (the classical pure seizure phenotype), and last, the chronic phase with a drug-resistant epilepsy and neuropsychological impairments. FIRES seems to be sporadic and very rare: we estimated the annual incidence in children and adolescents by a prospective hospital-based German-wide surveillance as 1 in 1,000,000. Because of the preceding infection and lacking evidence of infectious encephalitis, an immune-mediated pathomechanism and, therefore, a response to immunotherapies may be involved. To test the hypothesis that antibodies against neuronal structures cause FIRES, we analyzed sera of 12 patients aged 2 to 12 years (median 6 years) and cerebral spinal fluids (CSFs) of 3 of these 12 patients with acute or chronic FIRES. We studied six patients (two including CSF) 1 to 14 weeks (median 3 weeks) and six patients 1 to 6 years (median 3.5 years) after seizure onset. All samples were analyzed for antibodies against glutamate receptors of type N-methyl-D-aspartate (NMDA) and type α-amino-3-hydroxy-5-methyl-4- isoxazoleproprionic acid (AMPA), gamma-aminobutyric acid (GABA)receptors, voltage-gated potassium channel (VGKC)-associated proteins leucin-rich glioma inactivated 1 (LGI1) and contactin-associated protein like 2 (CASPR2), and glutamic acid decarboxylase (GAD) by a multiparametric recombinant immunofluorescence assay employing human embryonic kidney (HEK) cells transfected with cDNAs for the antigens. In addition, indirect immunohistochemistry using rat whole-brain sections was done in three patients. Finally, sera of 10 patients were tested for VGKC complex antibodies by radioimmunoprecipitation assay (RIA). None of the antibody tests were positive in any of the patients. Moreover, steroids, immunoglobulins, and plasmapheresis had no clear effect in the seven patients receiving immunotherapy. The failure of antibody-detection against the known neuronal antigens as well as the ineffectiveness of immunotherapy questions a role for autoantibodies in the epileptogenesis of classical FIRES. As we discuss, other underlying causes need to be considered including the possibility of a mitochondrial encephalopathy.
机译：高热感染相关性癫痫综合征（FIRES）在先前健康的儿童中是一种严重的感染后癫痫性脑病，分为三个阶段：初始阶段为简单的高热感染，几天后为急性期，其特征是急性发作或反复发作​​或难治性癫痫持续状态通常不再发烧，通常没有其他神经系统特征（经典的纯癫痫发作表型），最后是具有耐药性癫痫和神经心理障碍的慢性期。 FIRES似乎是零星的，而且非常罕见：我们通过在德国进行的基于医院的前瞻性监测，估计儿童和青少年的年发病率为1,000,000。由于先前的感染并且缺乏感染性脑炎的证据，因此可能涉及免疫介导的致病机制，因此可能涉及对免疫疗法的反应。为了检验针对神经元结构的抗体导致FIRES的假说，我们分析了12例2至12岁（中位数6岁）患者的血清和12例急，慢性FIRES患者中3例的脑脊髓液（CSF）。我们研究了癫痫发作后1至14周（中位3周）的6例患者（其中2例包括CSF）和6例患者1至6年（中值3.5年）。分析所有样品的抗N-甲基-D-天冬氨酸（NMDA）型和α-氨基-3-羟基-5-甲基-5-甲基-4-异恶唑丙酸（AMPA），γ-氨基丁酸（GABA）类型的谷氨酸受体的抗体受体，电压门控钾通道（VGKC）相关蛋白，富含亮氨酸的神经胶质瘤灭活1（LGI1）和接触蛋白相关蛋白（如2）（CASPR2），以及谷氨酸脱羧酶（GAD），采用人胚肾进行多参数重组免疫荧光测定（HEK）细胞转染了cDNA的抗原。另外，在三名患者中使用大鼠全脑切片进行了间接免疫组化。最后，通过放射免疫沉淀试验（RIA）检测了10例患者的血清中的VGKC复合抗体。在任何患者中，抗体测试均无阳性。此外，类固醇，免疫球蛋白和血浆置换术在接受免疫治疗的七名患者中没有明确的作用。针对已知神经元抗原的抗体检测失败以及免疫疗法的无效性质疑了自身抗体在经典FIRES癫痫发生中的作用。正如我们所讨论的，还需要考虑其他潜在原因，包括线粒体脑病的可能性。

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