葡萄糖转运子1缺乏综合征(附2例报告及文献复习)

Glucose Transporter 1 Deficiency Syndrome:Two Case Reports and Literature Review

目的探讨葡萄糖转运子1缺乏综合征(GLUT1-DS)的临床特点及其预后,提高对GLUT1-DS的认识。方法回顾性分析2例GLUT1-DS患儿的临床表现、实验室检查、治疗及预后特点,结合文献复习进行讨论。结果2例患儿均以癫癎发作首诊,发病年龄分别为1岁1月龄和2岁5月龄,癫癎发作不频繁且发作形式不典型,药物控制良好。病情进展出现阵发性运动障碍、偏瘫和共济失调表现。全外显子基因检测结果提示SLC2A1基因变异。脑脊液检查提示糖低,脑脊液糖/血糖比例明显降低。诊断为GLUT1-DS。予生酮饮食治疗后癫癎发作或阵发性运动障碍、偏瘫、共济失调等症状均好转。结论GLUT1-DS临床表现多样,以癫癎及多种发作性临床症状为主要表现,饥饿和疲劳可诱发发作或加重,是重要的临床诊断线索,脑脊液糖/血糖比值降低是GLUT1-DS最为重要的临床诊断依据。GLUT1-DS为可治性的神经系统疾病,早诊断、早治疗可显著改善患儿的预后。

Aim To explore the clinical characteristics and prognosis of glucose transporter 1 deficiency syndrome(GLUT1-DS),and improve the understanding of GLUT1-DS.Methods The clinical manifestation,laboratory examination,treatment and prognosis of 2 patients with GLUT1-DS were retrospectively analyzed.Results Two cases of children were first diagnosed with epilepsy onset,onset time of 1 year old and 2 years old respectively.Seizures were infrequent or sensitive to antiepileptic drugs.Epilepsy seizure forms were not typical.Paroxysmal movement disorders,hemiplegia,ataxia gradually emerged.The genetic results suggested that SLC2 A1 was positive,and the cerebrospinalfluid results suggested that the glucose content was low,and the ratio of cerebrospinal-fluid/blood glucose was significantly reduced.The glucose transporter 1 deficiency syndrome was diagnosed,and the epilepsy or paroxysmal movement disorder,hemiplegia and ataxia were all improved after ketogenic diet.Conclusion The clinical manifestations of GLUT1-DS are various,mainly including epilepsy and various paroxysmal events.Fasting and fatigue may induce or aggravate the symptoms,which are important clinical diagnostic clues,and the decrease of the ratio of cerebrospinal-fluid/blood glucose is the most important clinical diagnostic basis of this disease.Early diagnosis and early treatment can significantly improve the prognosis of children.