Atypical GLUT1 deficiency with prominent movement disorder responsive to ketogenic diet.
Mov Disord
; 21(2): 241-5, 2006 Feb.
Article
em En
| MEDLINE
| ID: mdl-16149086
ABSTRACT
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.
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Base de dados:
MEDLINE
Assunto principal:
Convulsões
/
Gorduras na Dieta
/
Deficiências do Desenvolvimento
/
Transportador de Glucose Tipo 1
/
Microcefalia
/
Transtornos dos Movimentos
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2006
Tipo de documento:
Article