期刊
PEDIATRIC NEUROLOGY
卷 39, 期 4, 页码 286-288出版社
ELSEVIER SCIENCE INC
DOI: 10.1016/j.pediatrneurol.2008.06.017
关键词
-
资金
- Marie Curie International Reintegration [MIRG-CT-2005-030967]
Pontocerebellar hypoplasias are heterogeneous disorders that share a reduction in the size of brainstem and cerebellum. We describe a patient with features of the rare combination of pontocerebellar hypoplasia and spinal motor neuron disease. Parental consanguinity, low Apgar scores, facial weakness, dysphagia, tongue fasciculations, stridor, generalized hypotonia, severe muscle weakness, areflexia, and congenital joint contractures were evident. Cranial magnetic resonance imaging revealed a small cerebellum and brainstem, and a muscle biopsy revealed neurogenic changes. These abnormalities suggested pontocerebellar hypoplasia type 1. (C) 2008 by Elsevier Inc. All rights reserved.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据