...
  • 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society >Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.
【24h】

Pontocerebellar hypoplasia type 2: variability in clinical and imaging findings.

机译：2型桥小脑发育不全：临床和影像学表现的变异性。

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

We report 24 children (14 girls) who presented with the typical neuroimaging findings of pontocerebellar hypoplasia (PCH) to describe the clinical spectrum of type 2. Twenty-one presented with the classical form described by Barth; characteristic features (15/21) were breathing and/or sucking problems during neonatal period and early onset hyperkinetic movement disorder. Eighteen were normocephalic at birth, but all developed microcephaly during infancy. Development was severely affected with none of the children being capable of sitting, walking, or talking. Social contact and visual fixation were persistently poor. Dyskinetic movement disorder was present in all, in some together with mild spasticity. Seizures occurred in 14 (in 7 as neonates). Eight children died (age 1 day-6 years). Neuroimaging showed an absent or severely flattened pons, different degrees of vermian hypoplasia, with cerebellar hemispheres (wing-like structures) being equally or more affected. Three (all girls) were less severely affected clinically and did not develop the dyskinetic movement disorder, motor and cognitive development were somewhat better. Microcephaly was also a prominent sign. Severity of pontocerebellar neuroimaging findings did not differentiate between the typical and atypical clinical group and did not correlate with clinical outcome.
机译：我们报告了24名儿童（14名女孩），他们表现出典型的脑小脑发育不全（PCH）的神经影像学发现，以描述2型的临床表现。特征（15/21）是新生儿期间的呼吸和/或吮吸问题，以及早发性高动力运动障碍。十八岁出生时为常头畸形，但婴儿期均发展为小头畸形。发育受到严重影响，没有一个孩子能够坐着，走路或说话。社会接触和视觉注视一直很差。所有人中都存在运动障碍性运动障碍，并伴有轻度痉挛。癫痫发作14例（新生儿7例）。八个孩子死亡（年龄1天6岁）。神经影像学检查显示脑桥缺失或严重扁平，不同程度的Vermian发育不全，小脑半球（翼状结构）受到相同或更多影响。三个（所有女孩）在临床上受到的影响较小，并且没有发生运动障碍性运动障碍，运动和认知能力发展较好。小头畸形也是一个突出的迹象。桥小脑神经影像学检查的严重程度不能区分典型和非典型临床组，也不与临床结果相关。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

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