神经元移行异常新生儿的临床特征及预后  

Clinical features and prognosis of neonates with neuronal migration disorders

作　　者：关函洲[1] 张新华[1] 张思琦 张涛[3] 徐树明[2] Guan Hanzhou;Zhang Xinhua;Zhang Siqi;Zhang Tao;Xu Shuming(Department of Neonatology,Shanxi Provincial Children Hospital,Taiyuan 030006,China;Department of Medical Imaging,Shanxi Provincial Children Hospital,Taiyuan 030006,China;School of Humanities and Social Sciences,Shanxi Medical University,Taiyuan 030607,China)

机构地区：[1]山西省儿童医院新生儿内科,太原030006 [2]山西省儿童医院影像科,太原030006 [3]山西医科大学人文社会科学学院,太原030607

出　　处：《中华新生儿科杂志(中英文)》2025年第2期90-94,共5页Chinese Journal of Neonatology

基　　金：山西省卫生健康委科研课题(2020019)。

摘　　要：目的总结新生儿期确诊神经元移行异常(neuronal migration disorders,NMD)患儿的临床特点。方法回顾性选择山西省儿童医院新生儿内科2018年7月至2022年1月收治的经头颅磁共振确诊的NMD患儿为研究对象,总结患儿临床特征,并通过收集门诊复诊资料或电话随访预后。结果研究期间共收治32480例新生儿,确诊NMD 27例(0.8‰),男性17例,女性10例。就诊日龄为2.9(1.0,3.0)d,平均出生体重(2923±838)g、胎龄39.1(37.5,40.3)周。母亲孕期有并发症5例,巨细胞病毒感染3例,围产期缺氧3例。22例行胎儿颅脑超声检查,1例确诊NMD,1例行胎儿头颅磁共振检查确诊NMD,产前确诊率7.4%(2/27)。27例患儿临床表现为喂养困难14例(51.9%)、肌张力低5例(18.5%)、特殊面容4例(14.8%)、惊厥3例(11.1%)、呼吸困难3例(11.1%);以非神经系统症状就诊20例(74.1%)。所有患儿完善头颅磁共振检查,巨脑回畸形10例(37.0%)、灰质异位8例(29.6%)、多小脑回畸形6例(22.2%)、脑裂畸形5例(18.5%)、无脑回畸形3例(11.1%),两种以上类型的共5例(18.5%)。2例患儿失访;25例患儿随访至9.1(6.0,12.0)月龄,存活12例,9例发育迟缓、3例脑性瘫痪,死亡13例,包括家长放弃治疗后死亡6例。8例灰质异位患儿中存活7例。结论新生儿期NMD临床可无癫痫表现。有围产期高危因素、生后喂养困难、肌张力减低、特殊面容者建议尽早完善头颅磁共振检查。NMD患儿整体预后不佳,存活者大多留有后遗症,灰质异位患儿存活率较高。ObjectiveTo summarize the clinical characteristics of infants diagnosed with neuronal migration disorders(NMD).MethodsPatients admitted to the Department of Neonatal Medicine of Shanxi Children’s Hospital between July 2018 and January 2022 and diagnosed with NMD were retrospectively collected.Clinical and follow-up data,including chief complaint,clinical manifestations,imaging findings,and prognosis were retrospective analyzed.ResultsA total of 32,480 patients were admitted during the study period,of whom 27 were diagnosed with NMD(0.8‰).Among the NMD patients,17 were male and 10 were female.The median age at consultation was 2.9(1.0,3.0)d.The average birth weight was(2923±838)g,and the gestational age was 39.1(37.5,40.3)weeks.Five mothers had complications during pregnancy,including three with cytomegalovirus infection,and three with perinatal asphyxia.22 cases underwent fetal cranial ultrasound,and one case was diagnosed with NMD.1 case was diagnosed with NMD following fetal cranial MRI.The prenatal diagnosis rate was 7.4%(2/27).Among the 27 cases,the clinical manifestations included feeding difficulties in 14 cases(51.9%),hypotonia in 5 cases(18.5%),unusual facies in 4 cases(14.8%),seizures in 3 cases(11.1%),and dyspnea in 3 cases(11.1%).A total of 20 cases(74.1%)presented with non-neurological symptoms.All patients underwent cranial MRI,which revealed macrogyria in 10 cases(37.0%),gray matter heterotopia in 8 cases(29.6%),polymicrogyria in 6 cases(22.2%),schizencephaly in 5 cases(18.5%),and lissencephaly in 3 cases(11.1%).Five cases(18.5%)had two or more types of malformations.Two cases(12.5%)were lost to follow-up.A total of 25 patients were followed up to an average of 9.1(6.0,12.0)months,with 12 survived,9 with developmental delay,3 with cerebral palsy,and 13 deceased,including 6 who died after their parents withdrew treatment.Among the 8 patients with gray matter heterotopia,7 survived.ConclusionsNeonatal NMD may present without epilepsy.Early cranial MRI is recommended for infants with perinatal ris

关 键 词：新生儿 神经元移行异常 临床研究 预后 

分 类 号：R72[医药卫生—儿科]