1型葡萄糖转运体缺陷综合征一例报告及文献复习

目的总结1型葡萄糖转运体缺陷综合征的临床特点、实验室检查、分子遗传学诊断及生酮饮食治疗疗效。方法报告1例以痫样发作为首发的1型葡萄糖转运体缺陷综合征病例。检索国内外相关文献,共检索出明确诊断的1型葡萄糖转运体缺陷综合征32例,进行文献复习。结果包括作者报告1例患者,共33例,男19例,女14例。临床特点:27/33例有痫样发作,发作年龄2个月至35岁之间。大多发作年龄在6个月以内。25/33例有共济失调,大多数轻中度共济失调,少部分患者共济失调影响行走及日常生活。24/33例肌张力障碍。14/33例有小头畸形。实验室检查:30/33例患者进行了脑脊液糖检查,23-56mg/dl之间,平均34.2±4.7mg/dl。脑脊液糖/血糖0.24-0.57之间,平均0.38±0.07。21/33例患者进行了红细胞摄取3-O-甲基-D-葡萄糖的能力检查,结果显示红细胞摄取3-O-甲基-D-葡萄糖的能力较正常对照下降约50%左右。29/33例进行了脑电图检查,发现痫样放电25例,表现为多灶性棘波、棘慢波。32/33例患者进行了GLUT1-DS基因SLC2A1筛查,发现12例错义突变,2例无义突变,2例插入突变,16例缺失或剪切位点突变。治疗:所有癫痫患者均进行了抗癫痫药物治疗,痫样发作均难以控制。28/33例患者(25例癫痫患者和3例发作性运动障碍)进行了生酮饮食治疗。24例癫痫患者的痫样发作完全控制,1例痫样发作明显缓解。3例发作性运动障碍明显改善。结论 1型葡萄糖转运体缺陷综合征临床以难治性痫样发作、语言智能发育落后、脑脊液糖/血糖明显降低为特点,常规抗癫痫药物难以控制痫样发作,生酮饮食能够控制痫样发作,并对语言、认知、运动障碍均有改善作用。

To report one case of glucose transporter type 1 deficiency syndrome and literature review.

Objective： To summary the clinical characteristics, laboratory examination, molecular genetics diagnose and effects of ketogenic diet in glucose transporter type 1 deficiency syndrome （ GLUT1 - DS）. Mothods ： Epilepsy seizure as an initial presentation in a case with glucose transporter type 1 deficiency syndrome by auther＇ report. 32 cases of glucose transporter type 1 deficiency syn- drome were diagnosed definitely by searching pertinent literature. Results： 33 cases （19 males and 14 females）, including a case by auther＇ report, were analyzed. Clinical characteristic included epileptic seizure in 27/33 cases, which age of onset was between 2 month and 35 year - old, but majority was below 6 month. Ataxia was seen in 25/33, which majority were mild and moderate cases. The other clinical manifestations included dystonia in 24/33, paroxysmal dyskinesia in 3/33. microcephaly was seen in 14/33. Cere- brospinal fluid examination was performed in 30/33 cases, and a obviously decreased sugar concentration ranged from 23 to 56 mg/dl, average 34. 2±4. 7mg/dl. The ratio between CSF sugar and blood sugar was 0. 24 -0. 57. The mean efficiency for the 3 - O - methyl - Dglucose uptake into erythrocytes was performed by red blood cells. The patients＇ values were significantly decreased to about half of the control values. EEG examination was performed in 29/33, manifesting epilepsy discharge in 25 cases, which included muhifo- cality spike or spike and slow wave in majority of cases. GLUT1 - DS gene SLC2A1 screening was performed in 32/33, detecting mis- sense mutation in 12 cases, nosense in 2 cases, insertion mutation in 2 cases, deletion and splice -site mutations in 16 cases. Keto- genic diet, which were administered in 28/33 patients （epilepsy in 25 cases, paroxysmal dyskinesia in 3 cases）, was effectively con- trois the epileptic seizures, but no responsibility for routinely antiepileptic drugs. Conclusion： Clinical characteristic in GLUT1 - DS were refractory epileptic seizure, language and mental development retard, the low ratio sugar in CSF/blood. The epileptic seizure was no effective by routinely antiepileptic drugs. Ketogenic diet can not only improve to control the epileptic seizure, but ameliorate language, cognition, as well as movement disorder.