摘要
目的探讨1型葡萄糖转运体缺陷综合征（glucose transporter 1 deficiency syndrome，GLUTl．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MRJ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。
Objective To investigate the clinical features of glucose transporter 1 deficiency syn- drome（GLUT1-DS） and summarize the characteristics of GLUT1-DS through reviewing related references. Methods The clinical data including manifestation, cerebrospinal fluid （CSF） glucose, electroencephalo- gram, MRI and gene mutation of a patient with GLUT1-DS was collected and the related literatures were re- viewed. 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 retool/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 pa- tients, 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 de- creased 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.
出处
《中国小儿急救医学》
CAS
2016年第5期337-341,共5页
Chinese Pediatric Emergency Medicine
基金
昆明市卫生科技人才培养项目（SW后备086）
