【摘要】 目的分析5例以癫痫发作为首发症状的先天性高胰岛素血症患儿临床资料,探讨其早期诊断和治疗方法。方法回顾性分析2012年7月-2016年8月江西省儿童医院神经内科收治5例以癫痫发作起病的先天性高胰岛素血症患儿围生期情况、临床表现、实验室检查、治疗,以及随访至2017年3月资料。结果 5例患儿均为男性,起病时间为出生后3~9个月不等,均以惊厥为主要临床表现,实验室检查均有持续性低血糖和高胰岛素血症,并伴有低脂肪酸血症和低酮血症,3例使用二氮嗪治疗有效,2例单纯饮食治疗发作并无明显减少;2例继发癫痫,3例为急性症状发作;随访至2017年3月,1例智力正常,3例均有不同程度发育落后,1例失访。结论先天性高胰岛素血症多以癫痫发作为首发症状,低血糖严重和病程长者脑损伤多见且严重,早期治疗能明显改善预后。可通过血糖监测、血胰岛素、血酮体、血脂等检查作出早期诊断;多数患儿应用二氮嗪治疗有效。更多还原

【Abstract】 Objective To analyze the clinical data of 5 cases of congenital hyperinsulinemia with sizures as the initial symptoms. Methods Risk factors in perinatal period,clinical manifestation,laboratory examination,treatment and follow-up visits of 5 cases of congenital hyperinsulinemia with sizures as the initial symptoms were analyzed retrospectively,who were admitted to Department of Neurology of Jiangxi Children’s Hospital from July 2012 to August 2016. Results 5 children were all male. The onset time varied from 3 to 9 mouths old. All the cases presented seizures as the main clinical manifestations,persistent hypoglycemia,hyperinsulinemia,low free fatty acid and hypoketonemia. During follow-up,treatment with diazoxide and dietary therapy was effective in 3 cases,pure dietary therapy ineffective in 2 cases. 3 cases manifested as acute symptomic seizures,2 cases as remote symptomic epilepsy. During follow-up,1 cases showed normal intelligence,3 cases developmental delay,and 1 case dropout. Conclusion Most of the infants with congenital hyperinsulinemia presented seizures as initial symptoms. Severe hypoglycemia and long duration would damage brain,and early management may significantly improve the prognosis. The early diagnosis can be made by measuring fasting blood glucose,insulin,free fatty acid and,plasma β-hydroxybutyric acid,C peptide and so on. The majority of children were effective by diazoxide.更多还原