新生儿遗传代谢性疾病振幅整合脑电图临床分析

Clinical analysis of amplitude integration electroencephalography of neonatal genetic metabolic diseases

目的 总结新生儿遗传代谢性疾病(IEM)患儿不同程度振幅整合脑电图(aEEG)的临床特点及预后。方法 回顾性分析2018年1月至2021年12月在湖南省儿童医院新生儿科诊断IEM并行aEEG监测的患儿的围生期资料、不同程度振幅整合脑电图临床特点、头颅MRI表现及随访预后结局。结果 共纳入31例符合诊断IEM,共诊断15种IEM,aEEG结果重度异常23例,轻度异常7例,正常1例;振幅整合脑电图中重度患儿多见于氨基酸代谢障碍(4/4,100%)、尿素循环障碍(5/5,100%)、有机酸代谢(10/12,83.3%),多有肌张力异常、惊厥、呼吸衰竭的临床表现,不合并其他畸形,有血氨异常增高、头颅MRI异常。重度aEEG异常患儿死亡率高于轻度aEEG异常和正常之和,差异有统计学意义(P<0.05)。结论 IEM是以aEEG重度异常常见,常伴有惊厥、呼吸衰竭、高血氨为临床表现的一类疾病,aEEG重度异常者预后差,死亡率高。

Objective Summarize the clinical characteristics and prognosis of different degrees of amplitude inte-grated electroencephalography(aEEG)in inborn errors of metabolism(IEM).Methods Retrospective analysis was made on the perinatal data,clinical characteristics of different degrees of amplitude integrated electoencephalography,cranial MRI findings and follow-up outcomes of children diagnosed with IEM and monitored by aEEG in the Neonatology Department of Hunan Children's Hospital from January 2018 to December 2021.Results A total of 31 cases were included that met the di-agnostic criteria for IEM,with a total of 15 types of IEM diagnosed.There were 23 cases with severe abnormalities,7 cases with mild abnormalities,and 1 case with normal aEEG results;aEEG in severe children is mostly found in amino acid me-tabolism disorders(4/4100%),urea cycle disorders(5/5100%),organic acid metabolism(10/12,83.3%),most of which have clinical manifestations of abnormal muscular tone,convulsion,respiratory failure,no other malformations,abnormal increase in blood ammonia,skull MRI abnormalities,and high mortality in severe aEEG,and statistical analysis using SPSS 26.0 soft-ware has statistical significance(P<0.05).Conclusion IEM is a kind of disease with the clinical manifestations of severe ab-normality of aEEG,often accompanied by convulsion,respiratory failure,and hyperammonemia.Patients with severe abnor-malities in aEEG have a poor prognosis and a high mortality rate.