成人神经元核内包涵体病(NIID)一例报道并文献复习
A Case Report of Adult-Onset Neuronal Intranuclear Inclusion Disease and Literature Review
摘要: 神经元核内包涵体病(Neuronal intranuclear inclusion disease, NIID)是一种罕见的可累及多系统的进行性神经系统退行性疾病，其典型特征是神经元和体细胞中出现嗜酸性透明核内包涵体，其临床表现多样，不仅累及中枢神经，也可累及周围神经及自主神经，临床极易漏诊或误诊。本文报道1例认知障碍的63岁NIID患者，其颅脑MRI显示双侧大脑半球皮髓质交界处对称性高信号，呈现典型的皮质下“绸带征”表现，后经NOTCH2NLC基因检测确诊。结合相关文献复习，旨在提高临床医师对该病的认识与诊断水平。
Abstract: Neuronal intranuclear inclusion disease (NIID) is a rare, progressive neurodegenerative disorder involving multiple systems. It is pathologically characterized by eosinophilic hyaline intranuclear inclusions in both neuronal and somatic cells. The clinical manifestations of NIID are highly diverse, involving not only the central nervous system but also the peripheral and autonomic nervous systems, which often leads to missed diagnoses or misdiagnoses in clinical practice. In this article, we report a case of a 63-year-old patient with NIID presenting with cognitive impairment. Brain MRI revealed symmetrical high-intensity signals at the corticomedullary junction of bilateral cerebral hemispheres, exhibiting the typical subcortical “ribbon sign”. The diagnosis was subsequently confirmed via NOTCH2NLC gene testing. Combined with a literature review, this report aims to enhance clinicians’ understanding and diagnostic accuracy for this disease.
文章引用：杨豪. 成人神经元核内包涵体病(NIID)一例报道并文献复习[J]. 临床医学进展, 2026, 16(9): 1522-1528. https://doi.org/10.12677/acm.2026.1693191

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