新生儿期结节性硬化症8例  

Neonatal tuberous sclerosis complex in 8 cases

作　　者：郑旭[1] 翁景文[1] 刘红[1] 

机构地区：[1]首都医科大学附属北京儿童医院新生儿中心,100045

出　　处：《中华实用儿科临床杂志》2017年第12期912-915,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：目的探讨新生儿期结节性硬化症的临床特点。方法2006年9月至2015年9月于首都医科大学附属北京儿童医院住院确诊结节性硬化症患儿134例，其中8例新生儿期即出现临床症状，分析此8例患儿新生儿期临床表现（皮肤损害、神经系统异常等）、辅助检查（皮肤活检、心脏彩超、头颅影像学）及随访结果。结果本组8例中4例在新生儿期确诊结节性硬化症，4例未确诊，分别于4个月～14岁确诊本病。本组8例患儿在新生儿期6例（75％）存在皮肤改变，皮肤病变以色素脱失斑为主（5例），其次为血管纤维瘤（2例）、鲨鱼皮样斑点（1例）。新生儿期心脏病变表现为心脏横纹肌瘤4例（50％），发生率较高，且多发、分布广。心脏超声表现为团块样中强-强回声，质地均匀，边界清晰，1例对三尖瓣血流略有影响。1例心电图异常，为房性期前收缩伴室内差异性传导，加速性房性逸搏。中枢神经系统可表现为惊厥发作，头颅影像学病变表现为室管膜下结节（3例）、脑白质病变（2例）、巨细胞星形细胞瘤（1例）。1例发现邪C2基因阳性，为杂合突变，核酸突变位点为c．268C〉T（FA），氨基酸突变为P．90Q〉X，为无义突变，可能导致蛋白翻译提前终止。结论新生儿期结节性硬化症临床表现累及多系统，以皮肤、心脏、中枢神经系统多见，应注意新生儿查体，对疑似患儿进行头颅CT／磁共振成像、心脏超声筛查，并结合基因学诊断，可帮助新生儿科医师早期诊断本病。Objective To investigate the clinical characteristics of neonatal tuberous sclerosis complex （TSC）. Methods A total of 134 patients were admitted and diagnosed as TSC in Beijing Children＇s Hospital,Capital Medical University from September 2006 to September 2015. The clinical characteristics of TSC in 8 patients who had clinical symptoms initiating from the neonatal period （ skin lesion, neurologic abnormality, etc. ） were analyzed, so as to conduct the auxiliary examinations （skin biopsy, ultrasonic cardiogram, cranial imaging） and the follow -up results. Results Among 8 patients,4 were diagnosed as TSC in the neonatal period while other 4 were diagnosed at later period from 4 months to 14 years old. Six patients had skin lesions in neonatal period, accounting for 75% of 8 patients,with predominant symptoms ： hypomelanotic maeules （ 5 cases） , angiofibroma （ 2 cases） , and shagreen patch （ 1 case）. Cardiac abnormalities in neonatal period mainly included cardiac rhabdomyoma, which were characterized by high incidence, muhi -regional occurrence, and wide distribution, noticed in 4 patients （50%）. Ultrasonic cardiogram showed a mass in 4 patients with moderate - strong echo, uniform texture and clear boundary, and slight effect on tricuspid valve blood flows （ in 1 case）. Electrocardiogram abnormalities were found in 1 case,like atrial premature beats with intraven- tricular aberrant conduction, and accelerated atrial escape. Neurologic abnormality of neonatal TSC could present convulsive seizures. Cranial imaging lesions showed subependymal nodules （ 3 cases） , leukodystrophy （ 2 cases） , and giant - cell astrocytoma （ 1 case）. Evidence for TSC2 gene positive and heterozygous mutation was identified in 1 case. The nucleic acid mutation site was at c. 268C 〉 T （E4） ,and the amino acid mutation was p. 90Q 〉 X. The mutant effect was nonsense nmtation, which could lead to premature termination of protein translation. Conclusion The clinical characteristics of ne

关 键 词：新生儿 结节性硬化症 临床表现 

分 类 号：R722.1[医药卫生—儿科]