TY -的T1 Periventricularlaminar异位(PLH):描述在一系列的18例(P7.326) JF -神经学乔-神经学六世- 82 - 10补充SP - P7.326盟迪娜Amrom盟Firas Fahoum 首页AU -弗朗索瓦•Dubeau盟-加里·克拉克AU -尤金Boltshauser AU -保罗Curatolo盟左伦Guerrini AU -鲁本Kuzniecky AU -安妮蔡盟Parul Jayakar AU -加藤村三盟Barkovich盟多娜泰拉·Tampieri AU -丹尼斯·梅纳康盟弗雷德里克·威廉Andermann AU - Eva Andermann盟Dobyns Y1 - 2014/04/08 UR - //www.ez-admanager.com/content/82/10_Supplement/P7.326.abstract N2 -目的:我们报告的一系列十八PLH患者。背景:室周的灰质异位是一种神经元迁移障碍常常与癫痫有关。大多数病人有一个结节性类型。层流变体,分为线性或带状(gyriform),以前只有4中描述无关的患者;在一个案例中与复杂的皮层下和海马畸形有关,而在三人轻微的旋转的异常,但严重的智障。设计/方法:在这里,我们提出一个详细审查的脑部核磁共振成像的18例(2家族和16零星)PLH诊断;评估病变的位置和扩展,相关的脑部畸形的存在,这些与临床特征的相关性。结果:基于大脑核磁共振发现18例,我们定义六大PLH的子类。这些由分散线性PLH(5/18),额PLH(4/18),后主要PLH混合线性和带状方面(3/18),皮层下和室旁层流混合异位(4/18),扩散带状(1/18),扩散单边(1/18)。有关大脑畸形包括微妙的不规则的白色matter-PLH边境(2/18),扩散polymicrogyria(3/18),海马结构不对称(2/18),发育不全的小脑蚓部与大型小脑延髓池(1/18),全球小脑发育不全(2/18),以及各种异常的侧脑室(10/18)。 The clinical phenotype was variable, with no or some dysmorphic features, normal to low IQ, epilepsy, and psychiatric symptoms. In three patients, standard karyotype, comparative genomic hybridization (CGH) microarray, TUBA1A and FLNA sequencing were normal. CGH microarray showed a 14q deletion in one patient. CONCLUSIONS: PLH represents a rare variant of periventricular heterotopia. It is often discrete and hence can be easily overlooked on routine MRI. It is often associated with other brain malformations and a variable phenotype. We have identified six major subclasses according to the topography and extension of the lesion, and to its linear or ribbon-like aspect. The underlying etiology is not clear and likely heterogeneous. Disclosure: Thursday, May 1 2014, 3:00 pm-6:30 pm ER -