Prenatal Sonographic Diagnosis of Tuberous Sclerosis Complex

被引：11

作者：

Gedikbasi, Ali ^{[1
]}

Oztarhan, Kazim ^{[2
]}

Ulker, Volkan

Aslan, Gulseren ^{[3
]}

Gul, Ahmet ^{[1
]}

Sener-Arslan, Esra

Ceylan, Yavuz ^{[1
]}

机构：

[1] Istanbul Bakirkoy Matern & Children Dis Hosp, Dept Obstet & Gynecol, Div Maternal Fetal Med, Istanbul, Turkey

[2] Istanbul Bakirkoy Matern & Children Dis Hosp, Dept Pediat Cardiol, Istanbul, Turkey

[3] Istanbul Bakirkoy Matern & Children Dis Hosp, Dept Pediat Neurol, Istanbul, Turkey

来源：

JOURNAL OF CLINICAL ULTRASOUND | 2011年 / 39卷 / 07期

关键词：

cardiac rhabdomyoma; tuberous sclerosis; renal angiomyolipoma; obstetrics; CARDIAC RHABDOMYOMA; FETAL; TUMORS; FETUS;

D O I：

10.1002/jcu.20857

中图分类号：

O42 [声学];

学科分类号：

070206 ; 082403 ;

摘要：

We report the case of a male fetus with tuberous sclerosis complex (TSC), in whom multiple cardiac rhabdomyomas and renal angiomyolipomas were detected at 33 weeks by ultrasound with additional brain lesions detected on MRI, all confirmed after birth. DNA analysis of the TSC2 gene detected a de novo mutation in the TSC2 gene. Postnatal follow-up and neurological examination were normal, as were the results of Holter monitoring. (C) 2011 Wiley Periodicals, Inc. J Clin Ultrasound 39: 427-430, 2011; Published online in Wiley Online Library (wileyonlinelibrary.com) DOI: 10.1002/jcu.20857

引用

页码：427 / 430

页数：4

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