Ni Jingwen, Fang Boliang, Xu Huan, Liu Yahui, Fang Kenan, Li Shujun
Pediatric intensive care unit, Luoyang Maternal and Child Health Hospital, Luoyang, China.
Pediatric intensive care unit, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing 100045, China.
IDCases. 2023 Oct 11;34:e01910. doi: 10.1016/j.idcr.2023.e01910. eCollection 2023.
Infection-associated acute encephalopathy (AE) is a clinical condition caused by a variety of pathogens, particularly common viruses. In some cases, this condition could be characterized by a sudden onset and a rapid progression, leading to severe neurological sequelae, including acute encephalopathy with biphasic seizures and late reduced diffusion, hemorrhagic shock and encephalopathy syndrome, etc.
In this study, it was reported that three previously healthy children developed acute encephalopathy/encephalitis symptoms with different neurological sequelae after either Influenza A Virus or Human Herpesvirus 1 infection, presenting with fever and convulsions. What's more, after performing the gene exon detection for these three children, it was found that there are abnormal genes corresponding to their neurological sequelae, including and .
Therefore, comparing to children with common encephalitis, for children with encephalitis whose progression is rapid and clinical manifestations such as recurrent fever and frequent convulsions is difficult to improve, whole-exome sequencing can be a valuable tool for identifying encephalitis-associated genetic variants and providing strong evidence for prognostic prediction.
感染相关急性脑病（AE）是由多种病原体引起的临床病症，尤其是常见病毒。在某些情况下，这种病症的特点可能是起病突然且进展迅速，导致严重的神经后遗症，包括伴有双相性癫痫发作和后期弥散受限的急性脑病、出血性休克和脑病综合征等。
在本研究中，据报道，三名先前健康的儿童在感染甲型流感病毒或人疱疹病毒1后出现了伴有不同神经后遗症的急性脑病/脑炎症状，表现为发热和惊厥。此外，对这三名儿童进行基因外显子检测后发现，存在与其神经后遗症相对应的异常基因，包括 和 。
因此，与普通脑炎患儿相比，对于病情进展迅速且反复发热、频繁惊厥等临床表现难以改善的脑炎患儿，全外显子测序可作为识别脑炎相关基因变异的有价值工具，并为预后预测提供有力证据。
