RT期刊文章SR电子T1儿科主要进展型多发性硬化症:事实还是虚构?乔(4009)摩根富半岛投注体育官网林明神经病学神经病学FD Lippincott Williams &威尔金斯SP 4009签证官94 15 A1雅艾尔补充Hacohen A1奥马尔Abdel-Mannan A1罗莎Cortese A1 Evange沃斯默A1谢丽尔海明威A1艾伦·汤普森A1华莱士Brownlee A1奥尔加Ciccarelli年2020 UL //www.ebmtp.com/content/94/15_Supplement/4009.abstract AB目的:描述六个病人18岁前的进行性疾病,神经影像学特征典型的成年女士,和积极的脑脊液寡克隆乐队(时常),从而实现了2017年麦当劳标准。背景:之前的队列研究小儿多发性硬化症(MS)报道非常低的频率主要进步女士(项目组合管理系统)课程从0至7%。设计/方法:患者识别国立医院的神经病学与神经外科在伦敦(英国)和英国儿童炎症性脱髓鞘网络。半岛投注体育官网医疗记录两个回顾性分析进行了综述。结果:共有六名病人(5男1女),项目组合管理系统的诊断与疾病发病前18岁被确定。患者平均年龄为15.5岁(范围:17岁年),至少有一年的历史进步恶化的资产(n = 2)或进行性恶化的下肢功能(n = 4)。在空间传播第一MRI是出现在所有的病人。CSF台籍干部发现5/5的患者进行测试。在中国开放,所有患者下肢痉挛状态,3例患者发展认知困难,三个有视觉问题和三个膀胱的参与。eds中位数是5.5(范围:4 - 7.5)。三个病人(50%)复发在进步的临床过程,两个新的视觉症状出现,一个与腿的弱点和泌尿症状恶化。所有的病人显示重复新病变MRI成像。 Contrast enhancement was present in 3/4 (75%) during the disease course.Conclusions: Presentation with progressive neurological symptoms and signs in young people should prompt evaluation for genetic causes such as leukodystrophies, hereditary spastic paraparesis and mitochondrial diseases given the rarity of primary progressive course in pediatric MS. In the absence of an alternative diagnosis, with new therapeutic options becoming available for PPMS, this diagnosis should then be considered.Disclosure: Dr. Hacohen has nothing to disclose. Dr. Abdel-Mannan has nothing to disclose. Dr. Cortese has nothing to disclose. Dr. Wassmer has nothing to disclose. Dr. Hemingway has nothing to disclose. Dr. Thompson has nothing to disclose. Dr. Brownlee has received personal compensation for consulting, serving on a scientific advisory board, speaking, or other activities with Biogen, Celgene, Mylan, Merck, Novartis, Roche, Sanofi. Dr. Brownlee has received personal compensation in an editorial capacity for Multiple Sclerosis Journal.Dr. Ciccarelli has nothing to disclose.
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