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爆发性中枢神经系统水痘-带状疱疹病毒感染在 HIV 感染患者中通过宏基因组下一代测序意外诊断:病例报告。

Fulminant central nervous system varicella-zoster virus infection unexpectedly diagnosed by metagenomic next-generation sequencing in an HIV-infected patient: a case report.

机构信息

Department of Infectious Disease, the Second Hospital of Nanjing, Nanjing University of Chinese Medicine, 1-1 Zhongfu Road, Nanjing, 210003, China.

Department of pathogen detection products, BGI-Shenzhen, Shenzhen, 518083, China.

出版信息

BMC Infect Dis. 2020 Feb 19;20(1):159. doi: 10.1186/s12879-020-4872-8.

Abstract

BACKGROUND

Varicella-zoster virus (VZV) infection can be diagnosed clinically once classical rash occurs but the diagnosis is challenging when typical rash is absent. We reported a case of fulminant central nervous system (CNS) VZV infection in a human immunodeficiency virus (HIV)-infected patient without typical VZV-related rash. CNS VZV infection was unexpected identified by metagenomic next-generation sequencing (mNGS).

CASE PRESENTATION

A 28-year-old HIV-infected patient presented with neurological symptoms for 3 days. The patient, who was not suspected of VZV infection at admission, quickly progressed to deep coma during the first 24 h of hospitalization. An unbiased mNGS was performed on DNA extract from 300 μL cerebrospinal fluid (CSF) with the BGISEQ-50 platform. The sequencing detection identified 97,248 (out of 38,561,967) sequence reads uniquely aligned to the VZV genome, and these reads covered a high percentage (99.91%) of the VZV. Presence of VZV DNA in CSF was further verified by VZV-specific polymerase chain reaction and Sanger sequencing. Altogether, those results confirmed CNS VZV infection.

CONCLUSIONS

This study suggests that mNGS may be a useful diagnostic tool for CNS VZV infection. As mNGS could identify all pathogens directly from CSF sample in a single run, it has the promise of strengthening our ability to diagnose CNS infections in HIV-infected patients.

摘要

背景

水痘带状疱疹病毒(VZV)感染在出现典型皮疹时可临床诊断,但当无典型皮疹时诊断具有挑战性。我们报告了一例 HIV 感染患者出现暴发性中枢神经系统(CNS)VZV 感染,无典型 VZV 相关皮疹。CNS VZV 感染是通过宏基因组下一代测序(mNGS)意外发现的。

病例介绍

一名 28 岁 HIV 感染患者出现神经症状 3 天。入院时未怀疑 VZV 感染的患者,在入院后 24 小时内迅速进展为深昏迷。使用 BGISEQ-50 平台对 300μL 脑脊液(CSF)中的 DNA 提取物进行了无偏 mNGS。测序检测鉴定了 97248 个(38561967 个中)唯一与 VZV 基因组匹配的序列读取,这些读取涵盖了 VZV 的高比例(99.91%)。CSF 中存在 VZV DNA 通过 VZV 特异性聚合酶链反应和 Sanger 测序进一步证实。总之,这些结果证实了 CNS VZV 感染。

结论

本研究表明,mNGS 可能是 CNS VZV 感染的一种有用的诊断工具。由于 mNGS 可以在单次运行中直接从 CSF 样本中识别所有病原体,因此有望增强我们诊断 HIV 感染患者 CNS 感染的能力。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9f37/7031966/f40073056ab0/12879_2020_4872_Fig1_HTML.jpg

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