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 neonatal TSC may involve multi - system lesions, most commonly seen in the skin, cardiac, and nervous system. Neonatal physical examinations, cranial CT/magnetic resonance imaging and cardiac ultrasound screening should be done for the suspected TSC patients, and genetic diagnosis may contribute to the early diagnosis of the disease.
出处
《中华实用儿科临床杂志》
CSCD
北大核心
2017年第12期912-915,共4页
Chinese Journal of Applied Clinical Pediatrics
关键词
新生儿
结节性硬化症
临床表现
Neonate
Tuberous sclerosis complex
Clinical manifestation
