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| 以肢体抖动为首发症状的神经元核内包涵体病1例及文献复习 |
| Limb shaking as the first symptom in neuronal inclusion body disease: a report of one case and literature review |
| 投稿时间：2023-02-14 修订日期：2023-12-10 |
| DOI： |
| 中文关键词: 神经元核内包涵体病；肢体抖动；临床表现异质性 |
| 英文关键词: Neuronal inclusion body disease; Body shaking; Heterogeneity of clinical manifestations |
| 基金项目: |
| 作者 | 单位 | 邮编 | | 张国荣* | 济宁医学院附属医院神经内科 | 272000 | | 杨君 | 济宁医学院附属医院 | | | 颜辉 | 济宁医学院附属医院 | | | 张丽曼 | 济宁医学院附属医院病理科 | | | 李新辞 | 济宁医学院附属医院 | |
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| 中文摘要: |
| 目的 分析神经元核内包涵体病(NIID)的临床特点、影像学及皮肤病理特征，提高临床医生对该病的认识，减少误诊漏诊。方法 回顾性分析我院1例确诊的NIID患者的临床资料及诊治过程，并结合文献进行分析。结果 本例患者以左上肢肢体抖动起病，初步诊断“帕金森病”，多巴丝肼药物治疗后无明显缓解，后逐渐出现头晕、行走不稳，完善颅脑MRI提示DWI像可见皮髓质高信号，考虑NIID可能，进一步完善皮肤活检及基因检测最终明确诊断。结论 NIID临床罕见，临床表现高度异质性，易漏诊误诊，对不明原因的肢体抖动，应尽早完善影像学检查明确诊断。 |
| 英文摘要: |
| Objective: Analyze the clinical, imaging and cutaneous pathological features of neuronal intranuclear inclusion body disease (NIID), improve clinicians' understanding of NIID and reduce misdiagnosis and missed diagnosis. Methods :The clinical data, diagnosis and treatment process of one patient with NIID diagnosed in our hospital were retrospectively analyzed, combined with literature analysis. Results The patient was initially diagnosed as Parkinson's disease due to limb trembling in the left upper limb. After the treatment with dopamazid, there was no obvious relief, and then dizziness and walking instability gradually appeared. Brain MRI was improved, suggesting high signal in the skin and medullae on DWI images. Conclusion: NIID is rare and highly heterogeneous. Imaging examination should be improved as soon as possible for definite diagnosis of unexplained limb shaking. |
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