期刊
MOVEMENT DISORDERS
卷 21, 期 2, 页码 241-245出版社
WILEY-LISS
DOI: 10.1002/mds.20660
关键词
glucose transport protein; glut1; ketogenic diet; hypoglycorrhacia; movement disorder; dystonia; choreoathetosis; ataxia
资金
- NIDDK NIH HHS [DK 44888] Funding Source: Medline
Glucose transport protein deficiency due to mutation in the GLUT1 gene is characterized by infantile onset and chronic seizure disorder, microcephaly, global developmental delays, and hypoglycorrhachia. We describe a 10-year-old normocephalic male with prominent ataxia, dystonia, choreoathetosis, and GLUT1 deficiency whose motor abnormalities improved with a ketogenic diet. We illustrate the motor abnormalities, at baseline and after ketogenic diet, that characterize this unusual case. This case broadens the phenotype of GLUT1 deficiency and illustrates the importance of cerebrospinal fluid (CSF) evaluation in detecting potentially treatable conditions in children with undiagnosed movement disorders. (C) 2005 Movement Disorder Society.
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