胎儿结节性硬化症的超声与磁共振成像影像特征

张巧 黎新艳 黄飞雪 黄卫保　耿国兴

[摘要] 目的 探討胎儿结节性硬化症的产前超声检查及磁共振成像的影像特征。 方法 选取2015年1月至2020年3月我院产前超声检出胎儿心脏肿瘤、颅内结节的病例作为研究对象，观察胎儿心脏肿瘤的部位、大小、数量、回声特征，结合磁共振检查及基因检测结果进行特征性分析。 结果 在183 736例胎儿心脏产前超声筛查中，发现心脏肿瘤69例，发生率为0.38‰（69/183 736），肿瘤表现为类圆形实性高回声结节，部位分别位于心室、心房、室间隔、流出道内。69例心脏肿瘤胎儿中，30例行胎儿颅脑MRI检查，阳性17例，阴性13例;7例行TSC基因位点检测，阳性6例，阴性1例;13例行胎儿心脏超声随诊，肿瘤增大12例（伴增多4例），肿瘤大小及数量不变1例;临床最终确诊TSC共20例，发生率为0.11‰（20/183 736）。 结论 胎儿心脏肿瘤的大小、数量随孕龄增大而发生变化，肿瘤体积越大、数量越多，最终诊断结节性硬化症的可能性越大，预后越差。产前超声随诊观察心脏横纹肌瘤的影像特征，结合磁共振检查及基因检测，能为临床及时诊断结节性硬化症提供帮助。

[关键词] 产前超声;结节性硬化症;磁共振成像;胎儿;心脏横纹肌瘤

[中图分类号] R714.55          [文献标识码] B          [文章编号] 1673-9701（2021）06-0112-04

The ultrasound and magnetic resonance imaging features of fetal tuberous sclerosis

ZHANG Qiao1   LI Xinyan1   HUANG Feixue1   HUANG Weibao2   GENG Guoxing3

1.Department of Ultrasound， Maternity and Child Health Care of Guangxi Zhuang Autonomous Region， Nanning 530000， China; 2.Department of Radiology， Maternity and Child Health Care of Guangxi Zhuang Autonomous Region， Nanning   530000， China; 3.Genetic and Metabolic Center Laboratory， Maternity and Child Health Care of Guangxi Zhuang Autonomous Region， Nanning   530000， China

[Abstract] Objective To investigate the imaging characteristics of prenatal ultrasound and magnetic resonance imaging of fetal tuberous sclerosis. Methods The cases of fetal heart tumors and intracranial nodules detected by prenatal ultrasound detection from January 2015 to March 2020 were selected as the research objects. The location， size， number， and echo characteristics of the heart tumors were observed. The characteristic analysis was performed combined with the results of MRI and genetic testing. Results A total of 69 cases of cardiac tumors were found in 183 736 cases of the fetal heart by prenatal ultrasound screening， with an incidence of 0.38‰（69/183 736）. The tumors appeared as round-shaped solid hyperechoic nodules， which occurred in the ventricle， atria， ventricular septum and outflow tract. Among 69 cases of fetal heart tumors， 30 cases underwent fetal brain MRI， 17 cases were positive， and 13 cases were negative; 7 cases were tested for TSC gene locus， 6 cases were positive， and 1 case was negative. Among them， 13 cases underwent fetal cardiac ultrasound follow-up， 12 cases had enlarged tumors with 4 cases increased， and 1 case remained the same in size and number. A total of 20 cases of TSC were finally confirmed clinically， and the incidence was 0.11‰ （20/183 736）. Conclusion The size and number of fetal heart tumors change with the increase of gestational age. The larger the tumor volume and the number， the greater the possibility of the final diagnosis of tuberous sclerosis and the worse the prognosis. Prenatal ultrasound follow-up observation of the imaging characteristics of cardiac rhabdomyomas， combined with magnetic resonance examination and genetic testing， can provide help for the clinical diagnosis of tuberous sclerosis in a timely manner.

[Key words] Prenatal ultrasound; Tuberous sclerosis; Magnetic resonance imaging; Fetus; Cardiac rhabdomyomas

结节性硬化症（Tuberous sclerosis complex，TSC）是一种常染色体显性遗传性疾病，主要临床症状为皮脂腺瘤、癫痫、智力低下等，其表现为中枢神经、心脏、肾脏、皮肤等多器官系统受损，以中枢神经系统损害最常见，多数患儿首次就诊原因以癫痫发作为主[1]，严重影响其生活质量，准确的诊断对于这类患者的监测和治疗至关重要[2]。……