首页> 美国卫生研究院文献>other >CLOVE Syndrome (Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder
【2h】

CLOVE Syndrome (Congenital Lipomatous Overgrowth Vascular Malformations and Epidermal Nevi): CNS Malformations and Seizures may be a Component of this Disorder

机译:CLOVE综合征(先天性脂肪瘤过度生长血管畸形和表皮痣):CNS畸形和癫痫发作可能是这种疾病的一部分

代理获取
本网站仅为用户提供外文OA文献查询和代理获取服务,本网站没有原文。下单后我们将采用程序或人工为您竭诚获取高质量的原文,但由于OA文献来源多样且变更频繁,仍可能出现获取不到、文献不完整或与标题不符等情况,如果获取不到我们将提供退款服务。请知悉。

摘要

A newborn girl was found to have a massive lymphatic truncal vascular malformation with overlying cutaneous venous anomaly associated with overgrown feet and splayed toes. These manifestations comprise the recently described CLOVE syndrome. She also had cranial asymmetry and developed generalized seizures, which were treated with anticonvulsants. Cranial CT showed encephalomalacia, widening of the ventricles and the sulci, hemimegalencephaly (predominantly white matter) and partial agenesis of corpus callosum. Review of the literature identified several other patients with CLOVE syndrome, some of whom were misdiagnosed as having Proteus syndrome, with strikingly similar manifestations. We conclude that CNS manifestations including hemimegalencephaly, dysgenesis of the corpus callosum, neuronal migration defects, and the consequent seizures, may be a more common manifestation of CLOVE syndrome than is presently appreciated.
机译:发现一名新生女婴患有严重的淋巴性截断性血管畸形,并伴有双脚长满和脚趾张开的皮肤静脉异常异常。这些表现包括最近描述的CLOVE综合征。她还患有颅骨不对称并发展为全身性癫痫发作,并用抗惊厥药治疗。颅脑CT显示脑软化,脑室和脑沟扩大,半巨脑(主要为白质)和call体部分发育不全。文献综述确定了其他几例CLOVE综合征患者,其中一些被误诊为Proteus综合征,其表现极为相似。我们得出的结论是,中枢神经系统表现包括偏大脑畸形,call体发育不全,神经元迁移缺陷和随之而来的癫痫发作,可能是CLOVE综合征的一种较常见的表现。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
代理获取

客服邮箱:kefu@zhangqiaokeyan.com

京公网安备:11010802029741号 ICP备案号:京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有
  • 客服微信

  • 服务号