Schumacher Myriam, Rommel Frank Risto, Arneth Borros, Renz Harald, Stöcker Winfried, Windhorst Anita, Hahn Andreas, Neubauer Bernd Axel
1 Department of Child Neurology, Justus-Liebig University Gießen, Gießen, Germany.
2 Institute of Laboratory Medicine and Pathobiochemistry, Molecular Diagnostics, Justus-Liebig University Gießen, Gießen, Germany.
J Child Neurol. 2019 Oct;34(11):660-665. doi: 10.1177/0883073819849773. Epub 2019 May 29.
We determined the prevalence of autoantibodies against an extended number of established and novel neural antigens in children and adolescents with suspected autoimmune encephalitis, epilepsy, single seizures, or marked epileptiform activity in electroencephalography (EEG). Prospectively, 103 patients were recruited aged between 0 and 18 years and 104 controls. A panel of 35 autoantibodies against neural cell-surface and intracellular antigens was screened. Sixteen of 103 patients (15.5%) showed a positive result for 1 or more autoantibodies, compared to 6 of 104 controls (5.8%, = .02). Neurochondrin was identified as a possible new target of autoantibodies in 3 patients within this cohort, but none in controls. The patients showed severe behavioral disturbances, memory and cognitive impairment, episodes of reduced responsiveness, but no seizures, and normal MRI. Clinical findings, course, and treatment response of these 3 patients are presented.
我们测定了疑似自身免疫性脑炎、癫痫、单次发作或脑电图（EEG）显示明显癫痫样活动的儿童和青少年中，针对多种既定和新型神经抗原的自身抗体的患病率。前瞻性地招募了103名年龄在0至18岁之间的患者和104名对照。对一组针对神经细胞表面和细胞内抗原的35种自身抗体进行了筛查。103名患者中有16名（15.5%）对1种或更多自身抗体呈阳性结果，而104名对照中有6名（5.8%，P = .02）。在该队列中的3名患者中，神经软骨素被确定为自身抗体的一个可能新靶点，而对照中未发现。这些患者表现出严重的行为障碍、记忆和认知障碍、反应性降低发作，但无癫痫发作，且MRI正常。本文介绍了这3名患者的临床发现、病程和治疗反应。
