Friedman Jennifer R L, Thiele Elizabeth A, Wang Dong, Levine Kara B, Cloherty Erin K, Pfeifer Heidi H, De Vivo Darryl C, Carruthers Anthony, Natowicz Marvin R
Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, and Department of Neurology, Colleen Giblin Laboratories for Pediatric Neurology Research, Columbia University, New York, NY, USA.
Mov Disord. 2006 Feb;21(2):241-5. doi: 10.1002/mds.20660.
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.
由于GLUT1基因突变导致的葡萄糖转运蛋白缺乏症，其特征为婴儿期起病、慢性癫痫障碍、小头畸形、全面发育迟缓以及脑脊液低糖。我们描述了一名10岁的男性，头围正常，有明显共济失调、肌张力障碍、舞蹈手足徐动症，且患有GLUT1缺乏症，其运动异常通过生酮饮食得到改善。我们展示了该罕见病例在基线期和生酮饮食后的运动异常表现。此病例拓宽了GLUT1缺乏症的表型，并说明了脑脊液（CSF）评估在检测未确诊运动障碍儿童潜在可治疗疾病中的重要性。
