新生儿遗传代谢病视频脑电图和头颅磁共振特点及其对预后的预测价值  

Characteristics of video electroencephalogram and cranial magnetic resonance imaging in newborns with inherited metabolic disorders and predictive value for prognosis

作　　者：徐素华 许艳 杨琳[3] 张鹏 胡黎园 陆春梅 周文浩[3] 程国强 Xu Suhua;Xu Yan;Yang Lin;Zhang Peng;Hu Liyuan;Lu Chunmei;Zhou Wenhao;Cheng Guoqiang(Department of Neonatology,Children's Hospital of Fudan University,Shanghai 201102,China;Department of Neurology,Children's Hospital of Fudan University,Shanghai 201102,China;The Translational Medicine Center of Children Development and Disease of Fudan University,Children's Hospital of Fudan University,Shanghai Key Laboratory of Birth Defects,Shanghai 201102,China)

机构地区：[1]复旦大学附属儿科医院新生儿科,上海201102 [2]复旦大学附属儿科医院神经内科,上海201102 [3]复旦大学附属儿科医院儿童发育与疾病转化医学研究中心,上海市出生缺陷防治重点实验室201102

出　　处：《中华新生儿科杂志（中英文）》2021年第5期45-49,共5页Chinese Journal of Neonatology

基　　金：国家儿童医学中心临床研究中心大数据与人工智能研究资助项目(2020DSJ13)。

摘　　要：目的分析新生儿遗传代谢病(inborn errors of metabolism,IEM)患儿临床特征、视频脑电图(video electroencephalogram,VEEG)、头颅磁共振成像(magnetic resonance imaging,MRI)特点,探讨VEEG和MRI对IEM患儿预后的预测价值。方法选择2016年6月至2018年12月在复旦大学附属儿科医院新生儿科诊断IEM并行VEEG监测的患儿进行回顾性研究,根据患儿诊断分为有机酸血症组、能量代谢障碍组、尿素循环障碍组和其他组,以VEEG和头颅MRI作为判断预后的预测指标,以随访结果作为判断预后准确性的标准,用四格表评估预测方法的准确性。结果共纳入21例患儿,诊断14种IEM,以有机酸血症为主(47.6%,10/21)。16例(76.2%)VEEG结果异常,其中有机酸血症组VEEG异常率为80.0%(8/10),尿素循环障碍组为75.0%(3/4),能量代谢障碍组为50.0%(1/2),其他组为80.0%(4/5),各组间VEEG异常率差异无统计学意义(P=0.882)。VEEG诊断惊厥发作共3例,其中电发作2例。随着血氨水平的下降,VEEG背景电活动暴发间隔时间逐渐缩短。VEEG为中/重度异常、头颅MRI提示严重脑损伤预测预后不良的阳性预测值分别为90.0%(95%CI 55.5%~99.7%)、100%(95%CI 66.4%~100%),阴性预测值分别为50.0%(95%CI 18.7%~81.3%)、85.7%(95%CI 42.1%~99.6%)。结论IEM新生儿VEEG异常率高,连续VEEG监测能准确诊断新生儿惊厥发作并有效反映脑功能状态,为治疗及早期预测IEM患儿结局提供重要临床信息,结合头颅MRI检查可进一步提高对预后的预测价值。Objective To study the characteristics of video electroencephalogram(VEEG)and cranial magnetic resonance imaging(MRI)in neonates with inborn errors of metabolism(IEM)and to determine the predictive value for prognostic.Method From June 2016 to December 2018,a retrospective study was performed on newborns diagnosed with IEM receiving VEEG examinations at the Neonatology Department of our hospital.VEEG and cranial MRI were used as prognostic indicators and the follow-up results were used as criteria predicting the accuracy of prognosis.The accuracy of the prediction was calculated using a 4×4 table.Result A total of 21 eligible cases with 14 types of IEM were included.The most common type of IEM was organic acidemia(47.6%,10/21).16 cases(76.2%)had abnormal VEEG background patterns,including 8 cases of organic acidemia,3 cases of urea cycle disorders,1 case of energy metabolism disorder and 4 cases of other IEMs.No significant differences existed in the abnormality rate of VEEG background patterns among these groups(P=0.882).VEEG showed 3 cases of seizures including 2 cases of electrographic-only seizures.Interburst interval durations were shortened on VEEG background with the decrease of blood ammonia level.The positive predictive values of the moderate-to-severe abnormal VEEG background and the presence of major cerebral lesions on MRI in predicting poor prognosis were 90.0%(95%CI 55.5%~99.7%)and 100%(95%CI 66.4%~100%),respectively,and the negative predictive values were 50.0%(95%CI 18.7%~81.3%)and 85.7%(95%CI 42.1%~99.6%),respectively.Conclusion Neonates with IEM have higher incidences of abnormal VEEG.Continuous VEEG may accurately diagnose neonatal seizures and effectively monitor brain function.VEEG is a useful tool monitoring infants with IEM and predicting adverse outcomes,especially when used in combination with brain MRI.

关 键 词：遗传代谢病 脑电图描记术 视频 婴儿 新生 

分 类 号：R722.1[医药卫生—儿科] R741.044[医药卫生—临床医学]