胎儿结节性硬化症伴心横纹肌瘤1例尸检及文献复习  

Fetal multiply abnormity with cardiac rhabdomyoma:a case report of autopsy and review of literature

作　　者：张佳立[1] 张江宇[1] 吴坤河[1] 郜红艺[1] 阮红民[1] 赖日权[2] 

机构地区：[1]广东省妇幼保健院病理科,广州510010 [2]广州军区广州总医院病理科,广州510010

出　　处：《诊断病理学杂志》2010年第1期50-53,共4页Chinese Journal of Diagnostic Pathology

摘　　要：目的通过报道1例伴胎儿心横纹肌瘤的结节性硬化症及文献复习增加对该病的了解。方法对胎儿尸解病例行肉眼及石蜡切片观察,并做免疫组化检测。结果尸检发现胎儿心横纹肌瘤、双肾多发性囊肿,大脑灰白质内多发性结节。心肿瘤细胞myoglobin和actin(+),Ki-67和bcl-2(-);脑部结节S-100、vimentin、GFAP和nestin(+),Syn(-)。结论结节性硬化症为多脏器错构瘤样改变。产前行B超、超声心动图、CT、MRI等检查对确定诊断有一定价值。Purpose To report a case of tuberous sclerosis complex（TSC） with cardiac rhabdomyoma so as to improve the recognition of this disease. Methods A case of foetus autopsy was collected, and observed by macroscopy and microscopy. Paraffin-embedded tissue section were done with immunohistochemistry. Result Cardiac rhabdomyoma, combinating with brain parenchymal multiple nodus and two renal multiple cysts were found. The tumor of the cardia was positive for myoblobin, actin, desmin and ealdesmon, but negative for Ki-67 and Bcl-2. The node in the brain was positive for S-100 protein, vimentin, GFAP and nestin but negative for SYN. Conclusion Tuberous sclerosis is the change of multiply organ harmatoma. It is valuable to take the examinations of cardic ultrasound, CT and MR during the prenatal stage while making the diagnosis.

关 键 词：结节性硬化症 心横纹肌瘤 大脑皮质结节 双肾囊肿 

分 类 号：R593.9[医药卫生—内科学] R814[医药卫生—临床医学]