Department of Neuropaediatrics, Charité University Medicine, Berlin, Germany.
Department of Medical Immunology, Charité University Medicine, Berlin & Labor Berlin - Charité Vivantes, Berlin, Germany.
Eur J Paediatr Neurol. 2018 May;22(3):558-562. doi: 10.1016/j.ejpn.2018.01.002. Epub 2018 Jan 9.
Autoimmune-mediated processes are the driving force behind many neurological diseases. Autoimmune encephalitis, a group of syndromes, mediated by or at least associated with autoantibodies against neuronal tissue, have gained increasing importance especially in paediatric neurology. Since the first NMDAR encephalitis was described a growing number of patients with encephalopathy, seizures and psychiatric symptoms were found to suffer from treatable autoimmune disorders. Recently a severe form of encephalitis associated with GABAR antibodies was described showing extensive MRI abnormalities and refractory seizures.
We now describe a child with catatonia and encephalopathy due to antibodies against the GABA receptor. It is a rare paediatric case without the development of seizures despite severe encephalopathy.
The report extends the phenotype of this rare disease. It demonstrates a favourable outcome after introduction of an early and aggressive immunomodulatory therapy. Due to the child's history of previous viral meningitis, the case raises questions about the unrevealed mechanisms leading to autoimmune encephalitis, including the model of a viral trigger as discussed in Herpes infection and NMDAR encephalitis. Finally, it describes in detail the neuropsychological symptoms and cognitive functions during disease flare and recovery.
自身免疫介导的过程是许多神经疾病的驱动力。自身免疫性脑炎是一组综合征，由神经元组织自身抗体介导或至少与之相关，在儿科神经病学中越来越受到重视。自从首次描述了 NMDA 受体脑炎以来，越来越多的脑病、癫痫发作和精神症状患者被发现患有可治疗的自身免疫性疾病。最近，一种与 GABA 受体抗体相关的严重脑炎被描述，表现为广泛的 MRI 异常和难治性癫痫发作。
我们现在描述一例因 GABA 受体抗体导致的缄默症和脑病患儿。这是一例罕见的儿科病例，尽管有严重的脑病，但没有发展为癫痫。
该报告扩展了这种罕见疾病的表型。它表明在早期和积极的免疫调节治疗后，预后良好。由于患儿有先前病毒性脑膜炎的病史，该病例提出了关于导致自身免疫性脑炎的未揭示机制的问题，包括病毒触发模型，如疱疹感染和 NMDA 受体脑炎中所讨论的。最后，它详细描述了疾病发作和恢复期间的神经心理学症状和认知功能。
