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目的探讨结节性硬化症(TCS)胎儿超声及磁共振成像(MRI)特征。方法对2013年7月至2014年12月在湖北省妇幼保健院产前超声、MRI检查及引产胎儿尸检和出生后随访证实为结节性硬化症10例胎儿的影像学特征进行分析。结果产前超声筛查的996例胎儿中超声显示心室内、心室壁近室间隔或心房内圆形或结节状均质高回声结节18例(单发4例,多发14例),均未发现脑部结节;18例胎儿中MRI显示心脏横纹肌瘤4例;脑部室管膜下结节10例,均呈T1WI稍高信号,T2WI低信号的小结节,自侧脑室壁突出于室管膜表面;其中合并脑皮质结节3例,表现为皮质及皮质下T2WI低信号病变,形态不规则。产前超声及MRI联合诊断胎儿结节性硬化症10例(心脏结节和颅内结节并存)。影像学检查后9例终止妊娠(2例尸检诊断胎儿心脏横纹肌瘤伴颅内结节),1例出生后随访诊断为结节性硬化症。结论产前超声易于显示胎儿心脏横纹肌瘤而不能显示颅内结节;MRI易于显示胎儿颅内结节但仅能显示部分心脏结节;超声与MRI联合检查优势互补,为明确诊断胎儿结节性硬化症提供更多影像学依据。
Objective To investigate the characteristics of fetal ultrasound and magnetic resonance imaging (MRI) of tuberous sclerosis (TCS). Methods From July 2013 to December 2014, prenatal ultrasound, MRI and fetal autopsy and postnatal follow-up were performed in Hubei Maternal and Child Health Hospital from October 2013 to December 2014 to analyze the imaging features of 10 fetuses with tuberous sclerosis. Results In prenatal ultrasound screening of 996 fetuses, echocardiography showed 18 cases (4 cases in one case and 14 cases in each case) of intrauterine or ventricular wall interventricular septum or intracameral round or nodular homogenous echogenic nodules No brain nodules were found. MRI was performed in 18 fetuses. Four cases of cardiac rhabdomyoma were found in the fetus. 10 cases of subependymal nodules in the brain showed small T1WI and T2WI low signal nodules, In the ependymal surface; in which cortical nodules merged in 3 cases, showed cortical and subcortical T2WI low signal lesions, irregular shape. Prenatal ultrasound and MRI combined diagnosis of fetal tuberous sclerosis in 10 cases (cardiac nodules and intracranial nodules coexist). 9 cases of pregnancy termination after imaging examination (2 autopsy diagnosis of fetal rhabdomyocardial tumor with intracranial nodules), 1 case was followed up for diagnosis of tuberous sclerosis. Conclusion Prenatal ultrasound is easy to show fetal rhabdomyosarcoma and can not display intracranial nodules; MRI is easy to show fetal intracranial nodules but only shows some of the heart nodules; ultrasound and MRI combined with the advantages of each other in order to confirm the diagnosis of fetal nodules Sclerosis provides more imaging evidence.