论文部分内容阅读
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。
Objective To analyze the clinical data of 5 cases of congenital hyperinsulinemia with epilepsy as the first symptom and to explore its early diagnosis and treatment. Methods A retrospective analysis of the perinatal period, clinical manifestations, laboratory tests, treatment, and prognosis of 5 cases of congenital hyperinsulinemia with onset of seizures was performed in Department of Neurology, Children’s Hospital of Jiangxi Province from July 2012 to August 2016. And follow-up to March 2017 information. Results All the 5 children were male. The onset time ranged from 3 to 9 months after birth. The main clinical manifestations were convulsions. Persistent hypoglycemia and hyperinsulinemia were found in laboratory tests, accompanied by low Fatty acidemia and hypokalemia, 3 cases of diazoxide treatment effective, 2 cases of simple diet did not significantly reduce the attack; 2 cases of epilepsy, 3 cases of acute symptoms; follow-up to March 2017, 1 Cases of normal intelligence, 3 patients had varying degrees of development and backwardness, 1 patient lost. Conclusion Congenital hyperinsulinemia mostly seizures as the first symptom, severe hypoglycemia and longer duration of brain injury more common and serious, early treatment can significantly improve the prognosis. Can be diagnosed early by blood glucose monitoring, insulin, blood ketone body, blood lipids and other tests; most children with diazoxide treatment is effective.