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通过下一代测序技术诊断 13 岁女孩中的巴尔通体脑膜脑炎。

Diagnosing Balamuthia mandrillaris encephalitis via next-generation sequencing in a 13-year-old girl.

机构信息

Department of Infectious Diseases, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

Department of Pediatric Emergency Medicine and Critical Care Medicine, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

出版信息

Emerg Microbes Infect. 2020 Dec;9(1):1379-1387. doi: 10.1080/22221751.2020.1775130.

Abstract

Balamuthia amoebic encephalitis has a subacute-to-chronic course and is almost invariably fatal owing to delayed diagnosis and a lack of effective therapy. Here, we report a 13-year-old girl with cutaneous lesions and multifocal granulomatous encephalitis. The patient underwent a series of tests and was suspected as having tuberculosis. She was treated with various empiric therapies without improvement. She was finally correctly diagnosed via next-generation sequencing of the cerebrospinal fluid. The patient deteriorated rapidly and died 2 months after being diagnosed with Balamuthia mandrillaris encephalitis. This study highlights the important clinical significance of next-generation sequencing, which provides better diagnostic testing for unexplained paediatric encephalitis, especially that caused by rare or emerging pathogens.

摘要

阿米巴脑膜脑炎呈亚急性至慢性病程,由于诊断延迟和缺乏有效治疗,几乎无一例外地导致死亡。在此,我们报告了一例患有皮肤损伤和多灶性肉芽肿性脑炎的 13 岁女孩。该患者进行了一系列检查,被怀疑患有结核病。她接受了各种经验性治疗,但没有改善。最终通过对脑脊液的下一代测序正确诊断。患者病情迅速恶化,在被诊断为曼氏巴尔通体脑炎 2 个月后死亡。本研究强调了下一代测序的重要临床意义,它为不明原因的小儿脑炎,特别是由罕见或新兴病原体引起的脑炎提供了更好的诊断检测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de61/7473209/b38f3212280c/TEMI_A_1775130_F0001_OC.jpg

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