1型葡萄糖转运体缺陷综合征临床特征并文献复习

目的 探讨1型葡萄糖转运体缺陷综合征(glucose transporter 1 deficiency syndrome,GLUT1-DS)的临床特征并进行文献复习.方法 对1例GLUT1-DS患儿的临床资料、脑脊液葡萄糖、脑电图、MRI和基因突变特点进行分析,并进行文献复习.结果 患儿,男,6岁1个月,9个月起晨起空腹时出现全面强直阵挛发作,共发作7次,头围47.5cm.辅助检查:脑脊液葡萄糖1.87mmol/L,脑脊液葡萄糖/血糖比值0.36,头颅MRI正常,发作间期脑电图示广泛性棘慢波发放.SLC2A1基因检查:第4外显子c.350_385del(编码区第350_385号核苷酸缺失)杂合核苷酸变异,该变异为新发现的突变位点.文献复习共219例GLUT1-DS患儿,其中159例(72％)有癫痫发作,105例(47％)有运动障碍,61例(27％)有智力发育落后.脑脊液葡萄糖(1.92±0.31) mmol/L,脑脊液葡萄糖/血糖比值0.36±0.07.183例(96％)患儿存在SLC2A1基因突变,错义突变最多见.结论 GLUT1-DS临床症状谱广,脑脊液葡萄糖、脑脊液葡萄糖/血糖比值明显降低,且排除脑膜炎者可诊断GLUT1-DS,可行SLC2A1突变检查.

The clinical feature of glucose transporter 1 deficiency syndrome and literature review

Objective To investigate the clinical features of glucose transporter 1 deficiency syndrome(GLUT1-DS) and summarize the characteristics of GLUT1-DS through reviewing related references.Methods The clinical data including manifestation,cerebrospinal fluid (CSF) glucose,electroencephalogram,MRI and gene mutation of a patient with GLUT1-DS was collected and the related literatures were reviewed.Results The patient was a 6 years old boy.The patient,whose seizures occurred at the age of 9 month-old and prolonged to 6 year-old,attacked before breakfast.Physical examination showed microcephaly with head circumference 47.5 cm.Laboratory tests showed that CSF glucose decreased (1.87 mmol/L) and CSF-serum ratio was 0.36.And meantime the MRI was normal and electroencephalogram showed general spike and slow wave complex paroxysm.Mutation of SLC2A1 gene,c.350_385del,was found in the patient.There were 219 cases with GLUT1-DS had been reported and the age of onset was 15.69 months.In 219 patients,159 cases (72％) suffered seizures,105 cases (47％) had motor abnormalities,61 cases (27％) suffered intellectual disability.The CSF glucose values were (1.92±0.31) mmol/L,CSF-serum ratio was 0.36±0.07.SLC2A1 gene mutations were detected in 183 patients(96％)in which missense mutation was the most mutation.Conclusion A wide range of phenotypes of GLUT1-DS include seizures,motor abnormalities,mental retardation.The diagnosis is confirmed when CSF glucose and CSF-serum ratio are continuously decreased which in the absence of meningitis.The SLC2A1 gene should be detected in suspicion of GLUTI-DS patients.Early diagnosis and treatment may improve the prognosis of those GLUTI-DS patients.