Sirsi Deepa, Dolce Alison, Greenberg Benjamin M, Thodeson Drew
Department of Neurology, Neurotherapeutics and Pediatrics, UT Southwestern Medical Center, USA.
Ann Clin Case Rep. 2016;1. Epub 2016 Nov 3.
There is expanding knowledge about the phenotypic variability of patients with voltage gated potassium channel complex (VGKC) antibody mediated neurologic disorders. The phenotypes are diverse and involve disorders of the central and peripheral nervous systems. The central nervous system manifestations described in the literature include limbic encephalitis, status epilepticus, and acute encephalitis.
We report a 4.5 year-old boy who presented with intractable Myoclonic Astatic Epilepsy (MAE) or Doose syndrome and positive VGKC antibodies in serum. Treatment with steroids led to resolution of seizures and electrographic normalization.
This case widens the spectrum of etiologies for MAE to include autoimmunity, in particular VGKC auto-antibodies and CNS inflammation, as a primary or contributing factor. There is an evolving understanding of voltage gated potassium channel complex mediated autoimmunity in children and the role of inflammation and autoimmunity in MAE and other intractable pediatric epilepsy syndromes remains to be fully defined. A high index of suspicion is required for diagnosis and appropriate management of antibody mediated epilepsy syndromes.
关于电压门控钾通道复合物（VGKC）抗体介导的神经系统疾病患者的表型变异性，人们的认识正在不断扩展。这些表型多种多样，涉及中枢和周围神经系统疾病。文献中描述的中枢神经系统表现包括边缘性脑炎、癫痫持续状态和急性脑炎。
我们报告一名4.5岁男孩，表现为顽固性肌阵挛性失张力癫痫（MAE）或杜斯综合征，血清中VGKC抗体呈阳性。使用类固醇治疗后癫痫发作得到缓解，脑电图恢复正常。
该病例拓宽了MAE的病因谱，将自身免疫，特别是VGKC自身抗体和中枢神经系统炎症作为主要或促成因素纳入其中。对于儿童中电压门控钾通道复合物介导的自身免疫以及炎症和自身免疫在MAE和其他顽固性小儿癫痫综合征中的作用，人们的认识正在不断发展，仍有待充分明确。对于抗体介导的癫痫综合征的诊断和适当管理，需要高度的怀疑指数。
