Glucose transporter 1 deficiency syndrome: features of movement disorders, diagnosis and treatment / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 209-213, 2018.
Article
Dans Chinois
| WPRIM
| ID: wpr-300362
ABSTRACT
<p><b>OBJECTIVE</b>To investigate the clinical features, diagnosis and treatment of glucose transporter 1 deficiency syndrome (GLUT1-DS), as well as the diagnostic value of movement disorders.</p><p><b>METHODS</b>The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed.</p><p><b>RESULTS</b>There were two boys and two girls, with an age of onset of 2-15 months. Clinical manifestations included movement disorders, seizures, and developmental retardation. Seizures were the cause of the first consultation in all cases. The four children all had persistent ataxia, dystonia, and dysarthria; two had persistent tremor, two had paroxysmal limb paralysis, and two had eye movement disorders. Paroxysmal symptoms tended to occur in fatigue state. All four children had reductions in the level of cerebrospinal fluid glucose and its ratio to blood glucose, as well as SLC2A1 gene mutations. The four children were given a ketogenic diet, at a ketogenic ratio of 21 to 31, and achieved complete remission of paroxysmal symptoms within 5 weeks.</p><p><b>CONCLUSIONS</b>GLUT1-DS should be considered for epileptic children with mental retardation and motor developmental delay complicated by various types of movement disorders. The ketogenic diet is effective at a ketogenic ratio of 21 to 31 for the treatment of GLUT1-DS.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Thérapeutique
/
Transporteurs de monosaccharides
/
Erreurs innées du métabolisme glucidique
/
Diagnostic
/
Génétique
/
Troubles de la motricité
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Enfant d'âge préscolaire
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2018
Type:
Article
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