TY - T1的小说表型鉴定Opsoclonus-Myoclonus综合征(OMS)影响青少年和年轻的成年人和响应治疗(10 - 2.004)摩根富林明-神经学乔-神经病学SP - 10 - 2.004 LP - 10 - 2.004六世- 80 - 7补充非盟-泰国人Armangue盟莉迪亚萨瓦特盟Nuria Gresa-Arribas AU 首页-弗朗西斯克格劳盟Maarten Titulaer盟——约瑟Dalmau Y1 - 2013/02/12 UR - //www.ez-admanager.com/content/80/7_Supplement/IN10-2.004.abstract N2 -目的:报告一个新的表型Opsoclonus-Myoclonus综合征(OMS)患者没有NMDAR teratoma-associated脑炎抗体。背景:Teratoma-associated脑炎通常发生在NMDAR抗体。患者的神经系统症状没有这些抗体是未知的。设计/方法:审查我们的经验在过去5年的患者没有NMDAR teratoma-associated脑炎抗体。免疫学的研究包括老鼠大脑,免疫组织化学文化的神经元细胞化验。结果:270脑炎和畸胎瘤患者,36(92%女性)为NMDAR抗体阴性。其中,22(61%)开发了一种颅后窝综合症(共济失调、颅神经的参与,和/或OMS), 9(25%)著名的精神特性有或没有其他神经系统症状,3例(8%)边缘脑炎与间脑的障碍(1),和2个其他症状(癫痫发作,减少的意识水平)。Anti-neuronal抗体被确定在14个病人:1对Ma2和13对未知身份的神经元细胞表面抗原。一个值得注意的发现是,10 22名患者颅后窝了OMS症状。所有OMS是女性患者年龄中位数为27年(15-32范围);7患者神经系统症状前诊断肿瘤。 Six patients had CSF pleocytosis and increased protein concentration, and 3 had antibodies to unknown cell-surface antigens. In 9 patients, OMS showed complete response to tumor removal and/or immunotherapy, and in one patient a partial response.CONCLUSIONS: This study reveals a novel phenotype of OMS that affects teenagers and young women, associates with ovarian teratoma, and responds to treatment better than previously known paraneoplastic OMS phenotypes (<3 year-old infants with neuroblastoma and older adults with cancer of the lung, breast or ovary). Other manifestations of teratoma-associated encephalitis without NMDAR antibodies include a posterior fossa syndrome and a disorder with predominant psychiatric symptoms. Teenagers and young women with new onset OMS should be examined for an underlying ovarian teratoma.Supported by: In part by RO1NS077851 (JD), RO1MH094741(JD), RO1CA89054; Fundació la Marató de TV3 (JD), Fondo de Investigaciones Sanitarias (FIS, PI11/01780 to JD, and PS09/0193 to FG), and a McKnight Neuroscience of Brain Disorders award (JD). TA is recipient of a PFIS fellowship FI12/00366 from the Institute Carlos III (Spain) and a grant from the Spanish Society of Pediatric Neurology. JD receives royalties from the editorial board of Up-To-Date, from Athena Diagnostics for a patent for the use of Ma2 as autoantibody test, and licensing fees from Euroimmun for a patent for the use of NMDAR as autoantibody test.Disclosure: Dr. Armangue has nothing to disclose. Dr. Sabater has nothing to disclose. Dr. Gresa-Arribas has nothing to disclose. Dr. Graus has nothing to disclose. Dr. Titulaer has nothing to disclose. Dr. Dalmau has received personal compensation in an editorial capacity for UpToDate. Dr. Dalmau has received royalty payments from Athena Diagnostics. Dr. Dalmau has received research support from Euroimmun.Friday, March 22 2013, 8:00 am-12:00 pm ER -