MRI联合超声诊断胎儿结节性硬化症

Prenatal diagnosis of fetal tuberous sclerosis complex with ultrasonography and magnetic resonance imaging

目的:探讨胎儿结节性硬化症(TSC)的产前MRI诊断方法及影像特征。方法:回顾性分析产前MRI联合超声诊断为TSC的14例胎儿资料,并总结其影像特征。MRI主要采用快速成像即HASTE序列及DWI序列,部分胎儿结合T1WI(FL2D)扫描。结果:产前超声筛查发现心脏横纹肌瘤胎儿共22例,MRI检查发现14例胎儿脑部见室管膜下结节,5例同时合并脑皮质结节。14例胎儿均诊断为TSC。胎儿脑部结节表现为T1WI稍高信号,HASTE序列低信号结节,以HASTE序列显示最佳。本组14例TSC胎儿9例终止妊娠引产,其中2例引产后标本解剖病检,证实为心脏横纹肌瘤伴颅内结节;5例出生后随访证实为TSC。结论:产前超声检查可准确诊断胎儿心脏横纹肌瘤。超声提示心脏横纹肌瘤后,MRI对诊断胎儿TSC颅脑病变敏感性高。MRI联合超声可以确诊胎儿TSC。

Objective：To explore the imaging features of fetus tuberous sclerosis complex by using ultrasonography and MRI.Methods：Fourteen 14 cases of fetuses who were confirmed as tuberous sclerosis complex by MRI and ultrasonography were retrospectively analyzed,and the imaging characteristics of the 14 fetuses were summarized.MRI adopted fast imaging consisting of HASTE sequence and DWI sequence,part of scans being in combination with T1WI（FL2D）sequence.Results：Twenty-two cases were diagnosed as fetal cardiac rhabdomyoma by ultrasonography,in which,14 cases were found with subependymal nodules by magnetic resonance imaging,they were all diagnosed as having tuberous sclerosis complex combined with cardiac rhabdomyomas,including 5cases which revealed brain subcortical noduls meanwhile.Fetal brain nodules revealed slightly higher signal on T1 WI and low signal on HASTE sequence.They were best shown on HASTE sequence.Nine cases of the 14 had a termination of pregnancy,2cases of specimens after abortion were confirmed to have cardiac rhabdomyoma with intracranial nodules after anatomic inspection,5cases were confirmed for tuberous sclerosis complex after birth.Conclusions：Prenatal ultrasonography can diagnose fetal cardiac rhabdomyoma successfully,MRI can diagnose fetal brain nodules with high sensitivity.Once ultrasonography finds cardiac rhabdomyoma,it is easy to diagnose fetal tuberous sclerosis complex by MRI combined with ultrasonography.