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下一代测序用于诊断致命的巴拉穆提亚氨基脑炎:一个病例报告

Yuanyuan Feng¹, Huiyu Feng², Xuegao Yu³

¹Department of Clinical Laboratory, Children's Hospital, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530002, China.

Diagnostics (Basel, Switzerland)

|October 29, 2025

概括

下一代测序 (NGS) 在严重的中枢神经系统感染病例中快速检测到Balamuthia mandrillaris. 这项技术有助于诊断罕见的病原体,即使症状模仿常见感染.

科学领域:

神经学神经学
传染性疾病传染性疾病
分子诊断学分子诊断学

背景情况:

巴拉穆提亚曼德里拉里斯会引起罕见的,严重的巴拉穆提亚氨基脑炎 (BAE),特别是在免疫受损的个体中.
BAE的死亡率很高 (98%) 和模仿脑膜炎的非特异性症状,使临床诊断复杂化.
中国的发病率较低,因此早期识别具有挑战性.

研究的目的:

突出下一代测序 (NGS) 在诊断严重中枢神经系统 (CNS) 感染方面的实用性.
为了证明NGS在识别罕见病原体如B. mandrillaris.的有效性.

主要方法:

一个61岁的免疫能力强的妇女,怀疑中枢神经系统感染的案例介绍.
部CT和MRI扫描显示了多焦点出血病变和.
进行了血清向性NGS (tNGS) 和脑脊液转基因性NGS (mNGS).
脑组织活检证实了病原体.

主要成果:

血清tNGS检测到B. mandrillaris,随后mNGS在CSF中进行确认.
大脑活检最终确定了B. mandrillaris.
尽管进行了积极的治疗和去压缩性脑切除术,但由于诊断延迟,患者的病情恶化.

结论:

NGS技术 (tNGS和mNGS) 是用于早期和快速诊断严重中枢神经系统感染的宝贵工具.
这些方法有助于识别罕见或新型病原体,提高诊断能力.

关键词:

这种植物是Balamuthia mandrillaris.早期诊断早期诊断早期诊断脑炎是一种脑炎.这是下一代测序.

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