Background

Central nervous system infections cause significant morbidity and mortality in pediatric patients. However, in approximately half of the clinical cases, the etiology is unidentified. As an unbiased molecular diagnostic technology, next-generation sequencing is gradually being applied to investigate central nervous system infections. This review summarizes and critiques the literature on this new technology for etiologic identification of unexplained central nervous system infections in pediatric patients and discusses the future prospects for development of this technology in pediatrics.

Methods

A comprehensive PubMed search was conducted of articles published from January 1, 2008, to June 26, 2020 in order to retrieve all available studies on this topic. Other relevant articles were identified from recent reviews and the bibliographies of the retrieved full-text articles.

Results

Among the 441 studies retrieved, 26 pediatric studies, comprising 15 case reports and 11 case series, used next-generation sequencing as a diagnostic tool. In these 26 studies, next-generation sequencing was performed on cerebrospinal fluid samples from 529 pediatric patients, and potential causal pathogens were identified in 22.1% of the cases.

Conclusion

There is increasing evidence that next-generation sequencing can play a role in identifying the causes of unexplained encephalitis, meningoencephalitis, and meningitis in pediatric patients, although the diagnostic value of next-generation sequencing is difficult to quantify. There is an increasing need for close collaboration between laboratory scientists and clinicians. We believe that further clinical studies should be performed to evaluate the performance of next-generation sequencing for individual targets and in high-risk populations.

中文翻译：

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用于诊断不明原因中枢神经系统感染的新一代脑脊液测序

背景

中枢神经系统感染在儿科患者中引起显着的发病率和死亡率。然而，在大约一半的临床病例中，病因不明。作为一种公正的分子诊断技术，二代测序正逐渐应用于研究中枢神经系统感染。本综述总结和批评了这项新技术用于儿科患者不明原因中枢神经系统感染的病因鉴定的文献，并讨论了该技术在儿科的未来发展前景。

方法

对 2008 年 1 月 1 日至 2020 年 6 月 26 日发表的文章进行了全面的 PubMed 搜索，以检索有关该主题的所有可用研究。从最近的评论和检索到的全文文章的参考书目中确定了其他相关文章。

结果

在检索到的 441 项研究中，26 项儿科研究（包括 15 个病例报告和 11 个病例系列）使用新一代测序作为诊断工具。在这 26 项研究中，对 529 名儿科患者的脑脊液样本进行了二代测序，在 22.1% 的病例中确定了潜在的致病病原体。

结论

越来越多的证据表明，二代测序可以在确定儿科患者不明原因脑炎、脑膜脑炎和脑膜炎的病因方面发挥作用，尽管二代测序的诊断价值难以量化。实验室科学家和临床医生之间越来越需要密切合作。我们认为应该进行进一步的临床研究，以评估下一代测序在个体目标和高危人群中的性能。