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中华临床实验室管理电子杂志

中华临床实验室管理电子杂志 ›› 2025, Vol. 13 ›› Issue (02) : 115 -121. doi: 10.3877/cma.j.issn.2095-5820.2025.02.009

病例报告

一例孤独症谱系障碍患者的广州管圆线虫病宏基因二代测序诊断及治疗
贾孝云1, 陈茂生1, 付春来2, 陈家隆3, 谢哲凡2, 杨效权1, 刘捷安1, 龚丽娅1,†()   
  1. 1. 523058 广东东莞，南方医科大学附属第十医院急诊综合病区
    2. 523058 广东东莞，南方医科大学附属第十医院急诊ICU
    3. 523109 广东东莞，广东医科大学公共卫生学院
  • 收稿日期:2023-10-06 出版日期:2025-05-28
  • 通信作者: 龚丽娅
  • 基金资助:
    东莞市社会发展科技项目（20211800905262）

Diagnosis and treatment of metagenomic next-generation sequencing in a case of autism Angiostrongylus cantonensis

Xiaoyun Jia, Maosheng Chen, Chunlai Fu, Jialong Chen, Zhefan Xie, Xiaoquan Yang, Jiean Liu, Liya Gong†()   

  • Received:2023-10-06 Published:2025-05-28
  • Corresponding author: Liya Gong
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贾孝云, 陈茂生, 付春来, 陈家隆, 谢哲凡, 杨效权, 刘捷安, 龚丽娅. 一例孤独症谱系障碍患者的广州管圆线虫病宏基因二代测序诊断及治疗[J/OL]. 中华临床实验室管理电子杂志, 2025, 13(02): 115-121.

Xiaoyun Jia, Maosheng Chen, Chunlai Fu, Jialong Chen, Zhefan Xie, Xiaoquan Yang, Jiean Liu, Liya Gong. Diagnosis and treatment of metagenomic next-generation sequencing in a case of autism Angiostrongylus cantonensis[J/OL]. Chinese Journal of Clinical Laboratory Management(Electronic Edition), 2025, 13(02): 115-121.

表1 治疗前后外周血WBC、中性粒细胞、嗜酸性粒细胞和总IgE计数
项目 住院天数/d
1 2 3 5 7 9 11 14 17 18 20 23 27 34
WBC/×109/L 16.86 15.83 15.80 16.93 17.36 15.46 14.28 13.94 13.85 11.61 10.78 9.87 7.90 7.50
中性粒细胞绝对值/×109/L 12.88 11.32 11.33 12.83 11.80 9.37 8.50 8.22 7.80 5.89 6.10 5.61 3.63 3.24
嗜酸性粒细胞绝对值/×109/L 0.61 0.82 1.22 1.05 1.23 1.92 1.23 1.02 1.22 1.16 1.29 1.55 1.52 1.02
总 IgE/（IU/ml） — — — — — 1223 — — — — — — 595 —
图1 诊疗过程中患者体温变化趋势图
图2 治疗前后外周血WBC、中性粒细胞、嗜酸性粒细胞计数变化趋势图
图3 颅脑CT可见左额叶放射冠及左半卵圆中心多发斑块低密度灶 注：3A. 颅脑CT平扫见左侧额叶放射冠区斑块低密度灶；3B. 颅脑CT平扫见左侧半卵圆中心多发斑块低密度灶。
表2 诊疗过程前后4次患儿的脑脊液检查项目
项目 第 8 天 第 18 天 第 25 天 第 34 天
颜色、透明度 椰子水样 椰子水样 清亮、淡黄色 无色、清亮
蛋白定性 + + + +
WBC/×109/L 587 1123 643 477
单个核细胞/% 63 71 78 75
蛋白定量 1272 2960 5472 2097
图4 第9天颅脑核磁共振结果 注：颅脑核磁共振可见双侧侧脑室旁质、半卵圆中心及放射冠区散在多发异常信号，以左侧放射冠区病灶明显，并脑室系统稍扩张，左侧小脑幕增厚、强化。
图5 首次mNGS检测报告 注：病原体覆盖度达17 500种。5A. 外周血；5B. 脑脊液。
图6 住院周期内药物驱虫抗炎治疗时间节点图
图7 首次留取脑脊液外观
图8 诊疗过程中4次脑脊液蛋白定量变化
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