Metagenomic next-generation sequencing for diagnosis of fatal Balamuthia amoebic encephalitis

IF 2.6 4区医学 Q3 INFECTIOUS DISEASES Infection Genetics and Evolution Pub Date : 2024-02-19 DOI:10.1016/j.meegid.2024.105570

Lixia Qin , Yaqin Xiang , Ziwei Wu , Hainan Zhang , Xiaomei Wu , Qihua Chen

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Abstract

Introduction

Balamuthia amoebic encephalitis (BAE), caused by Balamuthia mandrillaris, is a rare and life-threatening infectious disease with no specific and effective treatments available. The diagnosis of BAE at an early stage is difficult because of the non-specific clinical manifestations and neuroimaging.

Case description

A 52-year-old male patient, who had no previous history of skin lesions, presented to the emergency department with an acute headache, walking difficulties, and disturbance of consciousness. The patient underwent a series of examinations, including regular cerebrospinal fluid (CSF) studies and magnetic resonance imaging, and tuberculous meningoencephalitis was suspected. Despite being treated with anti-TB drugs, no clinical improvement was observed in the patient. Following corticosteroid therapy, the patient developed a rapid deterioration in consciousness with dilated pupils. Metagenomic next-generation sequencing (mNGS) revealed an unexpected central nervous system (CNS) amoebic infection, and the patient died soon after the confirmed diagnosis.

Conclusion

This study highlights the application of mNGS for the diagnosis of patients with suspected encephalitis or meningitis, especially those caused by rare opportunistic infections.

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元基因组下一代测序用于诊断致命性巴拉穆氏阿米巴脑炎

导言：由曼地拉阿米巴痢疾杆菌（Balamuthia mandrillaris）引起的曼地拉阿米巴脑炎（BAE）是一种罕见的危及生命的传染病，目前尚无特异性的有效治疗方法。病例描述一位 52 岁的男性患者因急性头痛、行走困难和意识障碍到急诊科就诊，既往无皮肤损害病史。患者接受了一系列检查，包括常规脑脊液（CSF）检查和磁共振成像，结果怀疑是结核性脑膜脑炎。尽管接受了抗结核药物治疗，但患者的临床症状未见好转。在接受皮质类固醇治疗后，患者的意识迅速恶化，瞳孔放大。这项研究强调了 mNGS 在诊断疑似脑炎或脑膜炎患者（尤其是由罕见机会性感染引起的患者）中的应用。

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来源期刊

Infection Genetics and Evolution 医学-传染病学

CiteScore

8.40

自引率

0.00%

发文量

215

审稿时长

82 days

期刊介绍： (aka Journal of Molecular Epidemiology and Evolutionary Genetics of Infectious Diseases -- MEEGID) Infectious diseases constitute one of the main challenges to medical science in the coming century. The impressive development of molecular megatechnologies and of bioinformatics have greatly increased our knowledge of the evolution, transmission and pathogenicity of infectious diseases. Research has shown that host susceptibility to many infectious diseases has a genetic basis. Furthermore, much is now known on the molecular epidemiology, evolution and virulence of pathogenic agents, as well as their resistance to drugs, vaccines, and antibiotics. Equally, research on the genetics of disease vectors has greatly improved our understanding of their systematics, has increased our capacity to identify target populations for control or intervention, and has provided detailed information on the mechanisms of insecticide resistance. However, the genetics and evolutionary biology of hosts, pathogens and vectors have tended to develop as three separate fields of research. This artificial compartmentalisation is of concern due to our growing appreciation of the strong co-evolutionary interactions among hosts, pathogens and vectors. Infection, Genetics and Evolution and its companion congress [MEEGID](http://www.meegidconference.com/) (for Molecular Epidemiology and Evolutionary Genetics of Infectious Diseases) are the main forum acting for the cross-fertilization between evolutionary science and biomedical research on infectious diseases. Infection, Genetics and Evolution is the only journal that welcomes articles dealing with the genetics and evolutionary biology of hosts, pathogens and vectors, and coevolution processes among them in relation to infection and disease manifestation. All infectious models enter the scope of the journal, including pathogens of humans, animals and plants, either parasites, fungi, bacteria, viruses or prions. The journal welcomes articles dealing with genetics, population genetics, genomics, postgenomics, gene expression, evolutionary biology, population dynamics, mathematical modeling and bioinformatics. We also provide many author benefits, such as free PDFs, a liberal copyright policy, special discounts on Elsevier publications and much more. Please click here for more information on our author services .