Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease
Diagnostic indicators for adult-onset neuronal intranuclear inclusion disease
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DOI：
10.5414/np301203
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发表时间：
2020-01-01
影响因子：
1.1
通讯作者：
Hong, Daojun
中科院分区：
文献类型：
--
作者：
Wang, Yan;Wang, Bo;Hong, Daojun
成人型神经元核内包涵症(NIID)是一种罕见的神经退行性疾病。皮质髓质交界处异常高信号的弥散加权像(DWI)是诊断成人起病的NIID的有用指标。然而，弥散加权成像的异常通常是在疾病的晚期观察到的：进一步的研究可能有助于阐明有关NIID早期意识的一些临床指标。在这项研究中。我们总结了来自多个中心的9例NIID患者。平均年龄60.0+/-6.2岁。平均病程4.4+/-3.2年。最常见的症状包括认知障碍、发作性脑病和膀胱功能障碍。6例膀胱功能障碍患者中，3例先于其他神经系统症状，5例需行永久性膀胱造瘘术。2例早期可见散在的高弥散加权像信号。所有患者的皮肤中都发现了特征性的核内包涵体，并通过电子显微镜进行了确认。发作性脑病或膀胱功能障碍先于其他神经系统症状是成人发病NIID的有价值的诊断指标。痂体内压部的高DWI信号可能是诊断NIID的早期指标。抗泛素或抗p62抗体免疫染色是以认知功能障碍和自主神经功能障碍为典型表型背景的NIID的简便、灵敏的生物标志物。
Adult-onset neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative disorder. Abnormally high signals of diffusion-weighted image (DWI) along the corticomedullaty junction are a useful diagnostic indicator for patients with adult-onset NIID. However, the DWI abnormalities usually were observed in the late stage of disease: further study might be helpful to elucidate some clinical indicators regarding the early awareness of NIID. In this study. we summarized 9 patients with NIID from multiple centers. The mean age was 60.0 +/- 6.2 years. The mean duration of disease was 4.4 +/- 3.2 years. The most common symptoms included cognitive impairment, episodic encephalopathy, and bladder dysfunction. Among the 6 patients with bladder dysfunction, 3 patients had the symptom prior to the development of other neurological symptoms; 5 patients needed permanent cystostomy. Isolated high DWI signals on the splenium of corpus callosum were observed in 2 patients at the early stage. The characteristic intranuclear inclusions in the skin were identified in all patients and confirmed by electron microscopy. Episodic encephalopathy or bladder dysfunction prior to other neurological symptoms were valuable diagnostic indicators for adult-onset NIID. High DWI signals on the splenium of corpus callosum might be an early indicator for the diagnosis of NIID. The immunostain of anti-ubiquitin or anti-p62 antibody was a convenient and sensitive biomarker for NIID with the background of typical phenotype with cognitive impairment and autonomic dysfunctions.