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

作　　者：杨君[1] 颜辉 张丽曼 李新辞 张国荣[1] YANG Jun;YAN Hui;ZHANG Liman;LI Xinci;ZHANG Guorong(Department of Neurology,Affiliated Hospital of Jining Medical University;Department of Neurological Function Examination,Affiliated Hospital of Jining Medical University;Department of pathology,Affiliated Hospital of Jining Medical University,Jining 272000,China)

机构地区：[1]济宁医学院附属医院神经内科 [2]济宁医学院附属医院神经功能检查室 [3]济宁医学院附属医院病理科,济宁272000

出　　处：《济宁医学院学报》2024年第3期265-268,共4页Journal of Jining Medical University

基　　金：山东省自然科学基金青年项目(ZR2020QH110)。

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患者的临床资料及症状治过程,并结合文献进行分析及总结。结果 本例患者老年男性,以左上肢肢体抖动起病,初步诊断“帕金森病”,给予多巴丝肼药物治疗后症状无明显缓解,后逐渐出现头晕、步态不稳,再次就诊于我院,完善颅脑MRI提示DWI像可见额顶叶皮髓质高信号,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,临床表现具有高度异质性,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,必要时需结合皮肤病理检查,明确诊断。Objective Analyze the clinical,imaging and cutaneous pathological features of neuronal intranuclear inclusion body disease(NIID),improve understanding of NIID and reduce misdiagnosis and missed diagnosis for clinicians.Methods The clinical data,diagnosis and treatment process of the patient with NIID 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 he felt dizziness and walking instability gradually.Brain MRI showed high signal on DWI image.NIID was finally diagnosed by skin biopsy and genetic testing.Conclusion NIID is rare and highly heterogeneous.Imaging examination should be improved as soon as possible for definite diagnosis of unexplained limb shaking.

关 键 词：神经元核内包涵体病 肢体抖动 临床表现异质性 

分 类 号：R742[医药卫生—神经病学与精神病学]