Clinical and pathological features in adult-onset NIID patients with cortical enhancement
Clinical and pathological features in adult-onset NIID patients with cortical enhancement
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DOI：
10.1007/s00415-020-09945-7
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发表时间：
2020-06-13
影响因子：
6
通讯作者：
Hong, Daojun
中科院分区：
文献类型：
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作者：
Liang, Huiting;Wang, Bo;Hong, Daojun
背景神经元核内包涵体病（NIID）是一种以多器官嗜酸性透明包涵体为特征的神经退行性疾病。在常规MRI上，沿着皮髓质交界处的弥散加权像（DWI）上的高信号显示了对成人发作NIID的重要诊断价值。然而，在急性期的脑病样发作的对比MRI的变化很少被调查。方法检索2017年10月至2019年12月期间35例成人NIID患者的增强病灶。所有患者均行常规及增强MRI检查。所有患者均行标准皮肤活检。采用重复引物PCR和扩增子长度PCR技术对NOTCH 2 NLC基因5 ' UTR进行GGC扩增。结果35例中4例（11.4%）有皮质强化。强化病灶沿着后皮质表面选择性扩散，临床上与脑病样发作相关。这些患者的发病年龄更小，病程更短，头痛的发生率比那些没有增强的患者更高。在所有患者中观察到典型的p62阳性核内包涵体，而患者1同时具有许多细胞核充满异常物质p62免疫阳性，以及短卷曲丝材料的电子显微镜。所有患者经鉴定均存在NOTCH 2NLC基因GGC重复扩增。结论成人NIID患者应常规行增强MRI检查。部分成人型NIID患者表现为脑皮质强化和沿着皮质表面水肿，提示抗炎药物和降血糖药物可能是治疗这类患者的潜在方法。
Background Neuronal intranuclear inclusion disease (NIID) is a neurodegenerative disease characterized by eosinophilic hyaline intranuclear inclusions in multiple organs. On conventional MRI, high signals on diffused weight image (DWI) along the corticomedullary junction have demonstrated great diagnostic values for adult-onset NIID. However, changes of contrast MRI in the acute period of the encephalopathy-like episode have rarely been investigated. Methods Patients with enhanced lesions were retrieved in our database including 35 patients with adult-onset NIID between October 2017 and December 2019. Conventional and contrast MRI were conducted in all patients. Standard procedures of skin biopsy were performed in all patients. Repeat-primed PCR and amplicon length PCR were used to screen the GGC expansion in the 5 ' UTR of theNOTCH2NLCgene. Results Four of 35 patients (11.4%) were identified to have a cortical enhancement in this study. The enhanced lesions were selectively spread along the surface of posterior cortex and were clinically associated with encephalopathy-like episodes. These patients had a younger age of onset, shorter duration of disease, and a higher incidence of a headache than those without enhancement. Typical p62-postive intranuclear inclusions were observed in all patients, while patient 1 simultaneously had many nuclei full of abnormal substance immunopositive to p62, as well as short-curly filament materials on electron microscopy. All patients were identified to have GGC repeat expansion in theNOTCH2NLCgene. Conclusion Post-contrast MRI should be routinely performed in the adult-onset NIID patients. Some patients with adult-onset NIID showed cortical enhancement and edema along the surface of posterior cortex, indicating that dehydrate and anti-inflammatory drugs might be potential therapies for these patients.