From the Paediatric Neurosciences Research Group (J.D.S., M.E.O., S.M., A.B., L.D., M.W., S.M.Z.), Royal Hospital for Children; College of Medical, Veterinary & Life Sciences (J.D.S., A.B., L.D., S.M.Z.), University of Glasgow; Nuffield Department of Clinical Neurosciences (T.C.M., B.L., A.V., S.T.), John Radcliffe Hospital, Oxford; Department of Paediatric Neurosciences (A.M., J.S.), Royal Hospital for Sick Children, Edinburgh; Paediatric Neurology (A.J., M.K., P.B., E.P.), Tayside Children's Hospital, Dundee; Neuroradiology (K.F.), Queen Elizabeth University Hospitals, Glasgow; Department of Paediatrics (I.A.-A., R.G.), Forth Valley Royal Hospital, Larbert; Department of Paediatrics (J.A., M.C.), University Hospital Wishaw; Department of Paediatrics (J.C.), Victoria Hospital, Kirkcaldy; Department of Paediatrics (C.F., C.A.M.), University Hospital Crosshouse, Kilmarnock; Department of Paediatrics (J. MacDonnell), Borders General Hospital, Melrose; Department of Paediatrics (J. McKnight), Dumfries and Galloway Royal Infirmary; Department of Paediatrics (L.N.), Royal Alexandra Hospital, Paisley; Paediatric Neurology (E.S.), Royal Aberdeen Children's Hospital; and Department of Paediatrics (A.W.), Raigmore Hospital, Inverness, UK.
Neurology. 2020 Sep 15;95(11):e1590-e1598. doi: 10.1212/WNL.0000000000010318. Epub 2020 Jul 20.
To report the prevalence of anti-neuronal antibodies in a prospective whole-nation cohort of children presenting with seizures before their third birthday.
This was a prospective population-based national cohort study involving all children presenting with new-onset epilepsy or complex febrile seizures before their third birthday over a 3-year period. Patients with previously identified structural, metabolic, or infectious cause for seizures were excluded. Serum samples were obtained at first presentation and tested for 7 neuronal antibodies using live cell-based assays. Clinical data were collected with structured proformas at recruitment and 24 months after presentation. In addition, patients with seizures and clinically suspected autoimmune encephalitis were independently identified by a review of the case records of all children <3 years of age in Scotland who had undergone EEG.
Two hundred ninety-eight patients were identified and recruited and underwent autoantibody testing. Antibody positivity was identified in 18 of 298 (6.0%). The antibodies identified were GABA receptor B (n = 8, 2.7%), contactin-associated protein 2 (n = 4, 1.3%), glycine receptor (n = 3, 1.0%), leucine-rich glioma inactivated 1 (n = 2, 0.7%), NMDA receptor (n = 1, 0.3%), and GABA receptor A (n = 1, 0.3%). None of these patients had a clinical picture of autoimmune encephalitis. Seizure classification and clinical phenotype did not correlate with antibody positivity.
Autoimmune encephalitis is very rare in early childhood. However serum neuronal antibodies are identified in 6.4% of children presenting with seizures at <3 years of age. Antibody testing should not be a routine clinical test in early childhood-onset epilepsy because, in the absence of other features of autoimmune encephalitis, antibody positivity is of doubtful clinical significance. Antibody testing should be reserved for patients with additional features of encephalitis.
报告在一个前瞻性全国性队列中，3 岁以下出现癫痫发作的儿童抗神经元抗体的流行率。
这是一项前瞻性的基于人群的全国性队列研究，涉及在 3 年内首次出现新发性癫痫或复杂热性惊厥的所有儿童。排除有先前确定的结构性、代谢性或感染性癫痫病因的患者。在首次就诊时采集血清样本，并使用活细胞检测方法检测 7 种神经元抗体。在招募时和首次就诊后 24 个月使用结构化病例报告收集临床数据。此外，通过回顾苏格兰所有 3 岁以下接受脑电图检查的儿童的病历，独立识别出有癫痫发作和临床疑似自身免疫性脑炎的患者。
共确定并招募了 298 例患者，并进行了自身抗体检测。在 298 例患者中，18 例（6.0%）检测出抗体阳性。鉴定出的抗体有 GABA 受体 B（n = 8，2.7%）、接触蛋白相关蛋白 2（n = 4，1.3%）、甘氨酸受体（n = 3，1.0%）、亮氨酸丰富型胶质瘤失活 1（n = 2，0.7%）、NMDA 受体（n = 1，0.3%）和 GABA 受体 A（n = 1，0.3%）。这些患者均无自身免疫性脑炎的临床症状。癫痫发作分类和临床表型与抗体阳性无关。
自身免疫性脑炎在幼儿中非常罕见。然而，在 3 岁以下出现癫痫发作的儿童中，有 6.4%检测出血清神经元抗体。由于缺乏自身免疫性脑炎的其他特征，抗体阳性的临床意义值得怀疑，因此不应将抗体检测作为幼儿期起病的癫痫常规临床检测。抗体检测应保留给有脑炎其他特征的患者。
