摘要神经元核内包涵体病（NIID）是一种罕见的遗传性神经系统退行性疾病，可累及多个系统，但以排尿障碍为首发症状者少见，本文报道5例。5例在47 ~ 65岁（平均55.4岁）时开始出现排尿障碍症状，表现为尿频、排尿无力、尿不尽等神经源性膀胱症状；4个月至12年后开始出现神经系统症状，如头痛、记忆力下降、一过性意识丧失、行走不稳等。5例中4例有家族史。头MRI检查可见“缎带征”或“鸡冠征”；皮肤活检病理示细胞核中可见嗜酸性包涵体；NOTCH2NLC基因检测存在GGC异常突变。5例中3例因继发肾积水行膀胱造瘘，2例无特殊处理。5例确诊后随访18 ~ 35个月，行膀胱造瘘患者肾功能正常；5例神经系统症状均有不同程度加重。

abstractsNeuronal intranuclear inclusion disease（NIID）is a rare hereditary neurodegenerative disorder that can affect multiple systems. However，it is uncommon for urinary dysfunction to be the initial symptom. This article reports five cases. The five patients began to experience voiding dysfunction such as frequent urination，weak urination，and incomplete urination at the mean ages of 55.4（47 - 65）years old. Four months to twelve years after urinary onset，neurological symptoms such as headache，memory decline，transient loss of consciousness，and unsteady gait began to appear. Four of the five cases had a family history. Brain MRI revealed the “ribbon sign” or “crest sign” in all cases. Skin biopsy revealed eosinophilic inclusions in the cell nuclei，and NOTCH2NLC gene testing identified abnormal GGC mutations. Three of the five patients underwent cystostomy due to secondary hydronephrosis，while the other two received no special treatment. After a follow-up of 18 to 35 months since diagnosis，the patients who underwent cystostomy had normal renal function. Neurological symptoms in all five patients worsened to varying degrees.