PT -期刊文章盟Monique黑山AU -布莱恩床非盟-约瑟夫·帕里盟-约翰陈盟Ralitza Gavrilova AU -基思·约瑟夫盟Devin麦凯AU -蒂莫西·考夫曼AU -威廉Mantyh盟Eoin弗拉纳根TI -家族成人神经元在细胞核内的包含疾病(P2.187) DP - 2018年4月10 TA -神经病学PG - P2.187 VI - 90 IP - 15补充4099 - //www.ez-admanager.com/content/90/15_Supplement/P2.187.short 4100 - //www.ez-admanager.com/content/90/15_Supplement首页/P2.187.full所以Neurology2018 4月10;90 AB -目的:报告一个家庭与成人神经元在细胞核内的包含疾病(相当于卫生部)背景:成人相当于卫生部是一种罕见的退行性疾病,可以零星或家族性特征是多病灶的神经受累。它可以证实了嗜酸性的示范,p62,在病理上ubiquitin-immunoreactive神经核内包涵体。设计/方法:例描述从一个学术医疗centerCase 1:一个60岁的女人看到一个6个月的历史恶化头痛、失衡和记忆丧失,被急性脑病和类似中风发作。检查发现轻度认知障碍,瞳孔缩小,左同向偏盲,反射减退、震颤,共济失调。脑部MRI显示与亮信号双边大脑半球白质T2-hyperintensity diffusion-weighted-imaging(驾车)corticomedullary结的许多这样的病变。最初的脑活检是non-diagnostic。随后皮肤活检显示嗜酸性p62 ubiquitin-immunoreactive核内包涵体纤维母细胞,分泌腺的汗腺上皮与相当于卫生部一致。案例2:一个64岁的男人,例1的兄弟,面对亚急性混乱其次是类似中风发作,运动不耐受,不平衡和软弱。他因涉嫌thrombolysed缺血性中风,随后接受了类固醇和霉酚酸疑似桥本的脑炎。神经系统考试透露轻度认知障碍,瞳孔缩小、反射减退,两国髂腰肌无力和躯干的运动失调。 Brain MRI depicted bilateral cerebral hemispheric white matter T2-hyperintensity with bright signal on DWI at the corticomedullary junction portion of many of these lesions. Genetic testing for Fragile-X FMR1 premutation was negative. Skin biopsy demonstrated eosinophilic, p62 and ubiquitin-immunoreactive intranuclear inclusions in eccrine sweat glands and dermal fibroblasts comprised ultrastructurally of dense filamentous material, findings were consistent with NIID. Immunosuppression was discontinued.Conclusions: Adult-onset NIID may present with stroke-like episodes or mimic autoimmune encephalitis. MRI findings of leukoencephalopathy with corticomedullary bright signal on DWI images are hallmark findings and a helpful diagnostic clue. Diagnosis can be confirmed by skin biopsy.Disclosure: Dr Montenegro has nothing to disclose. Dr. Crum has nothing to disclose. Dr. Parisi has nothing to disclose. Dr. Chen has nothing to disclose. Dr. Gavrilova has nothing to disclose. Dr. Josephs has nothing to disclose. Dr. Mackay has nothing to disclose. Dr. Kaufmann has nothing to disclose. Dr. Mantyh has nothing to disclose. Dr Flanagan has nothing to disclose.