神经元核内包涵体病5例并文献复习

Neuronal intranuclear inclusion disease:5 cases report and review of literatures

目的探讨神经元核内包涵体病(neuronal intranuclear inclusion disease,NIID)的临床病理学特征、诊断及鉴别诊断。方法收集5例NIID患者临床资料及皮肤活检标本,应用HE、免疫组化EnVision两步法染色及电镜观察,部分病例行基因检测。结果患者年龄59~70岁,平均66岁。MRI检查DWI均可见对称性皮髓质交界区异常高信号影;镜下皮肤汗腺细胞、纤维母细胞、脂肪细胞中见核内嗜酸性包涵体。免疫表型:核内包涵体中p62呈阳性。电子显微镜示3例皮肤纤维母细胞中见核内包涵体,为类圆形丝状无膜结构。2例FMR1基因检测显示,CGG重复次数均在正常范围内。结论NIID临床进展缓慢,组织学表现多样,无特异性;明确诊断需结合影像学特征、皮肤病理活检和基因检测。

Purpose To investigate the clinicopathological features,immunophenotype,diagnosis,differential diagnosis of neuronal intranuclear inclusion disease(NIID).Methods The clinical data and skin biopsy specimens of 5 patients with NIID were collected and observed by HE,immunohistochemical EnVision two-step staining and electron microscopy,some cases were analyzed by genetic testing.Results The age was between 59 and 70,with an average age of 66 years old.On MRI,DWI showed symmetrical abnormal high signal along the corticomedullary junction.Histologically,eosinophilic inclusions were found in sweat gland cells,fibroblasts and adipocytes.Immunohistochemical staining showed inclusions were positive for p62.Under electron microscope,the inclusions in the skin fibroblasts of 3 patients were composed of round filamentous materials without membrane structure.2 cases of FMR1 gene testing showed CGG repeats were within the normal range.Conclusion NIID is a rare neurodegenerative disease with slow progress.Its clinical manifestations are diverse and nonspecific.This study demonstrates that NIID can be confirmed through imaging,skin pathological biopsy and gene detection.