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中华临床医师杂志(电子版) ›› 2023, Vol. 17 ›› Issue (07) : 834 -837. doi: 10.3877/cma.j.issn.1674-0785.2023.07.013

病例报告

表现为反复精神反应异常的神经元核内包涵体病一例报道及文献复习
毛振林, 杨灿洪(), 宫铭, 吕田明   
  1. 510600 广州,南方医科大学第三附属医院神经内科;510220 广州,广州市红十字会医院神经内科
    510600 广州,南方医科大学第三附属医院神经内科
  • 收稿日期:2022-09-05 出版日期:2023-07-15
  • 通信作者: 杨灿洪
  • 基金资助:
    广东省自然科学基金项目(2021A1515010006,2020A1515110506)

Neuronal intranuclear inclusion disease manifesting as repeated abnormal mental reactions: a case report and literature review

Zhenlin Mao, Canhong Yang(), Ming Gong   

  • Received:2022-09-05 Published:2023-07-15
  • Corresponding author: Canhong Yang
引用本文:

毛振林, 杨灿洪, 宫铭, 吕田明. 表现为反复精神反应异常的神经元核内包涵体病一例报道及文献复习[J]. 中华临床医师杂志(电子版), 2023, 17(07): 834-837.

Zhenlin Mao, Canhong Yang, Ming Gong. Neuronal intranuclear inclusion disease manifesting as repeated abnormal mental reactions: a case report and literature review[J]. Chinese Journal of Clinicians(Electronic Edition), 2023, 17(07): 834-837.

图1 患者头颅MRI结果图。患者发病4个月后的头颅MRI检查,示双侧额叶、顶叶、颞叶及枕叶皮髓质交界区在FLAIR序列可见线样、条带样高信号影,DWI为明显高信号影,增强扫描见左侧顶叶、颞叶及枕叶皮层下可见条带样明显强化注:MRI为核磁共振成像;FLAIR为液体衰减反转恢复序列;DWI为弥散加权成像序列
图2 患者皮肤活检病理结果图。患者发病4个月后的皮肤活检,示皮肤组织内皮肤附属器及脂肪细胞核内可见核内包涵体(箭头处)
图3 患者NOTCH2NLC基因检测结果图。患者发病4个月后NOTCH2NLC基因检测,示其5′区域CGG重复数大于70次注:CGG为胞嘧啶-鸟嘌呤-鸟嘌呤核苷酸序列
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