脑脊液宏基因组学第二代测序辅助诊断中枢神经系统链球菌感染二例

doi:10.3969/j.issn.1672-6731.2024.04.008

摘要/Abstract

关键词: 脑膜炎，肺炎球菌性, 脑脓肿, 脑脊髓液, 宏基因组学, 基因检测, 病例报告

Key words: Meningitis, pneumococcal, Brain abscess, Cerebrospinal fluid, Metagenomics, Genetic testing, Case reports

狄晓萌, 王佳伟, 段泽君, 刘磊. 脑脊液宏基因组学第二代测序辅助诊断中枢神经系统链球菌感染二例[J]. 中国现代神经疾病杂志, 2024, 24(4): 245-252.

Xiao-meng DI, Jia-wei WANG, Ze-jun DUAN, Lei LIU. Metagenomic next-generation sequencing assisted diagnosis of Streptococcal infection of central nervous system: two cases report[J]. Chinese Journal of Contemporary Neurology and Neurosurgery, 2024, 24(4): 245-252.

http://journal11.magtechjournal.com/cjcnn/CN/Y2024/V24/I4/245

图/表 5

图 1 例1重复送检冻存于-80 ℃冰箱的脑脊液样本mNGS测序显示，肺炎链球菌基因组的总碱基数为2 110 968 bp，序列覆盖的总长度为8951 bp，覆盖度为0.424%，平均深度为1 ×

Figure 1 mNGS in Case 1 (re-tested CSF samples stored at -80 ℃ refrigerator) showed Streptococcus pneumoniae was detected by mNGS in CSF, the total number of bases in the sequence was 2 110 968 bp, the total length of the sequence coverage was about 8951 bp, the genome coverage was 0.424%, and the average sequencing depth was 1 ×.

图 2 例1头部MRI检查所见 2a 横断面DWI显示双侧侧脑室枕角高信号，提示液-液平（箭头所示） 2b 横断面增强T₁WI未见右侧侧脑室强化征象，可见左侧侧脑室枕角室管膜轻度线样强化（箭头所示） 2c 横断面DWI显示第三脑室后部高信号，提示液-液平（箭头所示） 2d 横断面增强T₁WI未见第三脑室后部异常强化征象

Figure 2 Cranial MRI findings of Case 1 Axial DWI showed hyperintensity in bilateral occipital horn of the lateral ventricles, suggesting fluid-fluid planes (arrows indicate, Panel 2a). Axial enhanced T₁WI showed no enhancement in the occipital horn of the right lateral ventricle but mild rim-like ependymal enhancement in the horn of the left lateral ventricle (arrow indicates, Panel 2b). Axial DWI showed hyperintensity in the posterior portion of the third ventricle, suggesting fluid-fluid planes (arrow indicates, Panel 2c). Axial enhanced T₁WI showed no signs of abnormal enhancement of the posterior portion of the third ventricle (Panel 2d).

图 3 例2重复送检冻存于-80 ℃冰箱的脑脊液样本mNGS测序显示，中间链球菌基因组的总碱基数为1 932 951 bp，序列覆盖的总长度为26 463 bp，覆盖度为1.369%，平均深度为1.014 ×

Figure 3 mNGS in Case 2 (re-tested CSF samples stored at-80 ℃ refrigerator) showed Streptococcus intermedius was detected by mNGS in CSF, the total number of bases in the sequence was 1 932 951 bp, the total length of the sequence coverage was about 26 463 bp, the genome coverage was 1.369%, and the average sequencing depth was 1.014 ×.

图 4 例2头部CT检查所见 4a 横断面CT显示，右侧枕叶及左侧丘脑、基底节区多发低密度影 4b 横断面CT显示，左侧额叶低密度影（箭头所示） 图 5 例2头部MRI检查所见 5a 横断面T₁WI显示，右侧枕叶、左侧丘脑和额叶多发类圆形囊性病变，囊液呈低信号 5b 横断面T₂-FLAIR成像显示，右侧枕叶、左侧丘脑多发类圆形囊性病变，囊液呈稍高信号，周围可见高信号水肿区 5c 横断面DWI显示，右侧枕叶、左侧丘脑多发类圆形囊性病变，囊液呈高信号

Figure 4 Cranial CT findings of Case 2 Axial CT showed multiple hypodensities in the right occipital lobe, left thalamus and basal ganglia (Panel 4a). Axial CT showed a hypodensity lesion in the left frontal lobe (arrow indicates, Panel 4b). Figure 5 Cranial MRI findings of Case 2 Axial T₁WI showed multiple rounded hyperintensities in the right occipital lobe, left thalamus and frontal lobe (Panel 5a). Axial T₂-FLAIR showed multiple rounded cystic lesions in the right occipital lobe and left thalamus with slightly hyperintensity in the central part and hyperintense edema in the periphery (Panel 5b). Axial DWI showed multiple rounded cystic lesions with hyperintense cystic fluid in the right occipital lobe and left thalamus (Panel 5c).

图 6 例2左侧基底节病变光学显微镜观察所见 × 400 6a 水肿脑组织内散在小血管周围淋巴细胞“套袖”形成 HE染色 6b 脑实质内可见星形胶质细胞增生及散在淋巴细胞浸润 HE染色 6c 炎性细胞主要为CD3⁺T细胞免疫组化染色（EnVision二步法） 6d 仅见个别CD20⁺B细胞免疫组化染色（EnVision二步法）

Figure 6 Light microscopy findings of left basal ganglia of Case 2 × 400 There was brain edema with scattered perivascular lymphocytic cuffing (Panel 6a). HE staining Astrocyte infiltration and scattered lymphocytic infiltration were noted in the brain parenchymal lesions (Panel 6b). HE staining The main component inflammatory cells were CD3⁺T lymphocytes (Panel 6c). Immunohistochemical staining (EnVision) There were few CD20⁺B lymphocytes (Panel 6d). Immunohistochemical staining (EnVision)

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