葡萄糖转运子1缺陷综合征运动障碍特点和诊疗分析

Glucose transporter 1 deficiency syndrome:features of movement disorders, diagnosis and treatment

摘要:

目的 探讨葡萄糖转运子1缺陷综合征（GLUT1-DS）的临床特征和诊疗方法，分析运动障碍的诊断意义。方法 收集4例GLUT1-DS患儿的临床资料，分析其临床特点和治疗随访情况。结果 4例中男2例、女2例，起病年龄2~15个月。表现为运动障碍、癫癎发作和发育迟缓，均以癫癎发作为首诊原因。4例均有持续性共济失调、肌张力异常和构音障碍，2例有持续性震颤，发作性肢体瘫痪和眼球运动障碍各2例，劳累易诱发发作性症状。4例患儿的脑脊液葡萄糖及其与血糖的比值均降低。4例均检测到SLC2A1基因突变，均接受生酮饮食治疗，生酮比3：1~2：1，发作性症状5周内完全缓解。结论 对于合并多样化运动障碍的智力运动发育迟缓的癫癎患儿需考虑GLUT1-DS，生酮饮食的生酮比维持在3：1~2：1可起效。

Abstract:

Objective 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. Methods The clinical data of four children with GLUT1-DS were collected, and their clinical features, treatment, and follow-up results were analyzed. Results 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 2:1 to 3:1, and achieved complete remission of paroxysmal symptoms within 5 weeks. Conclusions 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 2:1 to 3:1 for the treatment of GLUT1-DS.