Objective To explore the clinical characteristics,gene mutation characteristics and therapeutic effect of ketogenic diet on glucose transporter 1 deficiency syndrome(GLUT1-DS).Methods A retrospective analysis was performed on 8 children with GLUT1-DS admitted to our hospital from January 2019 to December 2023,and the detailed clinical manifestations of these 8 cases were recorded.Results Among the 8 cases,5 were males and 3 females.The age of onset ranged from 3 months to 96 months.Epilepsy was the first onset symptom of 8 cases.Par-oxysmal dyskinesia was the first onset symptom of 2 cases.Psychobehavioral abnormalities com-bined with movement disorders was the first onset symptom of 1 case.6 cases had different de-grees of psychomotor retardation.CSF examination was performed in all patients,and CSF sugar in all 8 cases was reduced to varying degrees,ranging from 1.6-2.3mmol/L,and CSF sugar/glu-cose ratio ranged from 0.28 to 0.48.3 cases showed slow background activity;3 cases were nor-mal EEG;Epileptiform discharge occurred in 2 cases.5 cases were normal MRI and other cases had nonspecific changes.Genetic tests were performed in all 8 cases,among which 4 cases were missense variation,3 were frameshift variation and 1 was exon large fragment deletion mutation.All the children were treated with ketogenic diet,starting with classic KDT(2∶1),the course of treatment ranged from 7 months to 41 months,and no one gave up due to ketogenic adverse reac-tions or intolerance.With the exception of 1 case,others had different degrees of improvement in seizure control,dyskinesia and cognitive function.Conclusion The clinical manifestations of glu-cose transporter type 1 deficiency syndrome are varied.For patients with refractory seizure,devel-opmental retardation and complex dyskinesia,CSF examination or SLC2A1 gene mutation testing can help in the diagnosis of GLUT1-DS.Early initiation of ketogenic diet therapy may improve the symptom and prognosis of the patients.
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