总结新生儿结节性硬化症(TSC)的临床特点。

选择2017年12月13日，以高危儿，新生儿结节性硬化症待查，收入华中科技大学同济医学院附属同济医院，并确诊的1例新生儿TSC为研究对象。对患儿的临床病例资料进行回顾性分析，总结其临床特点。TSC文献复习的文献检索策略为：以"结节性硬化症""新生儿硬化病""心脏横纹肌瘤""tuberous sclerosis""neonate""neonatal cardiac tumor"为关键词，对万方数据知识服务平台、中国知网数据库及PubMed文献数据库建库至2017年4月，收录的关于TSC的文献进行检索，并总结其临床特点。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》要求。

①患儿，女性，生后30 min，入院诊断为高危儿，新生儿结节性硬化症待查。患儿在母亲孕龄为37孕周时，经胎儿心脏彩色多普勒超声检查，发现胎儿"心脏横纹肌瘤"；出生后无特异性临床症状及体征，实验室检查结果基本正常，头颅MRI检查结果提示"室管膜下结节"，临床诊断为TSC。患儿入院后接受营养、支持治疗5 d，病情稳定，自动出院。电话随访至患儿生后5个月时，未出现抽搐及皮肤损害。②TSC相关文献检索结果显示，新生儿TSC最常见临床表现为皮肤改变，其次为心脏、中枢神经系统病变；少数接受基因检测的患儿可见TSC2基因复合杂合突变，但是亦有部分符合TSC临床诊断的TSC患儿，其基因检测结果为阴性。

对新生儿期无明显特征性临床表现的患儿，新生儿医师应加强对TSC的识别与筛查，避免漏诊与误诊。

To summarize the clinical characteristics of neonatal tuberous sclerosis complex (TSC).

On December 13, 2017, due to high-risk infants, neonatal tuberous sclerosis complex yet to be investigated, a neonatal TSC was admitted and made a definite diagnosis in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology was chosen as research subject. Retrospective analysis was made on the clinical case data of the infant and the clinical characteristics were summarized. Setting up the retrieval strategy for TSC literatures review: with the key words of ＂tuberous sclerosis＂ ＂neonatal sclerosis＂ and ＂cardiac rhabdomyoma＂ in Chinese, ＂tuberous sclerosis＂ ＂neonate＂ and＂neonatal cardiac tumor＂ in English, the literatures on TSC were collected from Wanfang Data Knowledge Service Platform, China National Knowledge Infrastructure database and PubMed literatures database from construction to April 2017, and the clinical characteristics of TSC from these literatures were summarized. This study was in line with World Medical Association Declaration of Helsinki revised in 2013.

①This patient was a girl with age of 30 min after birth when hospitalized, the admission diagnosis was high-risk infant, neonatal tuberous sclerosis complex yet to be investigated. Fetal heart color Doppler echocardiography at 37 gestational age showed ＂cardiac rhabdomyoma＂. There were no specific clinical symptoms or signs after birth, and the results of laboratory examination were basically normal. The results of cranial MRI showed ＂subependymal nodules＂. The neonatal was diagnosed as TSC by clinical manifestations. After admission, the neonatal was given nutrition and supportive treatments for 5 days, and the pathogenetic condition was stable and she was discharged by her parents′ request. There was no convulsions or skin lesions during the telephone follow-up until 5 months after birth. ②The results of literatures searched about TSC showed that the most common clinical manifestations of neonatal TSC were skin lesions, followed by cardiac and central nervous system lesions, and a few of these infants who underwent genetic examination had TSC2 gene compound heterozygous mutation, also part of TSC patients who accorded with clinical diagnosis of TSC got negative genetic examination results.

Neonatal physicians should strengthen the identification and screening of TSC for those neonates without typical clinical manifestations to avoid missed diagnosis and misdiagnosis.