以震颤起病的成年散发型神经元核内包涵体病1例并文献复习

Adult sporadic neuronal intranuclear inclusion disease with tremor as the initial presentation:A case report and literature review

神经元核内包涵体病(NIID)是一种缓慢进展的罕见神经系统变性疾病,其病理特征为在神经系统及内脏器官中出现嗜酸性透明核内包涵体,其临床表现复杂多样,缺乏特异性,容易误诊或漏诊。近年来发现皮肤活检和基因检测为NIID的诊断提供了依据。本文报告1例以双上肢震颤为主要表现,最终经基因检测确诊为NIID的患者,分析其临床特点并结合相关文献复习总结NIID最新研究进展,旨在增加临床医生对NIID这一罕见病的认识。

Neuronal intranuclear inclusion disease(NIID)is a slowly progressive rare neurodegenerative disease with the pathological feature of the appearance of eosinophilic clear intranuclear inclusions in the nervous system and vis⁃ceral organs,and it has complex and diverse clinical manifestations and lacks specificity,which often leads to misdiagno⁃sis or missed diagnosis.In recent years,skin biopsy and genetic testing have provided a basis for the diagnosis of NIID.This article reports a patient with NIID who had upper limb tremor as the main manifestation and was finally diagnosed by genetic testing,analyzes the clinical features of this patient,and summarizes the latest research advances in NIID through literature review,so as to improve the understanding of this rare disease among clinicians.