Phenotypic variability of GLUT1 deficiency: When is necessary to suspect? / Variabilidad fenotípica del déficit de GLUT1: ¿Cuándo es necesario sospechar?
Rev Chil Pediatr
; 91(2): 260-264, 2020 Apr.
Article
em En, Es
| MEDLINE
| ID: mdl-32730547
INTRODUCTION: Glucose Transporter Type 1 Deficiency Syndrome (GLUT1-DS) is caused by the SLC2A1 gene muta tion, which encodes the glucose transporter proteins to the brain Neurological manifestations occur in three main domains: seizures, abnormal movements, and cognitive disorders. The diagnosis is presumed upon the finding of low CSF glucose and confirmed by the gene molecular analysis. Ac curate diagnosis is important because it has a specific treatment, which is ketogenic diet. OBJECTIVE: To analyze two SD-GLUT1 pediatric patients with unusual phenotype. CLINICAL CASE: We present the case of two siblings who presented absence seizures and a paroxysmal movement disorder. Both patients were studied, finding low CSF glucose. The diagnosis of GLUT1-DS was confirmed with molecular analysis. Specific treatment with ketogenic diet achieved good response in both cases. Con clusions: We present their peculiar clinical characteristics that allowed us to suspect this wide phe notypic spectrum. Correct and timely diagnosis and treatment can significantly improve the quality of life of those affected.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
/
Convulsões
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Proteínas de Transporte de Monossacarídeos
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Erros Inatos do Metabolismo dos Carboidratos
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Transtornos dos Movimentos
Aspecto:
Patient_preference
Limite:
Child, preschool
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Female
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Humans
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Male
Idioma:
En
/
Es
Revista:
Rev Chil Pediatr
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Chile
País de publicação:
Chile