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[引发产前诊断为博恩维尔结节性硬化症的心脏横纹肌瘤]

[A cardiac rhabdomyome evoking the antenatal diagnosis of a Bourneville's tuberous sclerosis].

作者信息

Charif D'Ouazzane M, Gueroui I, Betaich K, Bennani R, Touati Z, Haddour L, Cherti M

机构信息

Service de cardiologie B, CHU Ibn Sina, Rabat, Maroc.

Service de cardiologie B, CHU Ibn Sina, Rabat, Maroc.

出版信息

Ann Cardiol Angeiol (Paris). 2015 Feb;64(1):51-3. doi: 10.1016/j.ancard.2012.04.008. Epub 2012 May 7.

Abstract

Rare hereditary affection, the Bourneville's tuberous sclerosis (BTS) is an autosomal dominant inherited phakomatosis. Rhabdomyomes are the most frequent cardiac tumors in children and infants, they are one of the most premature modes of revelation of the STB. They sometimes allow to envisage the diagnosis in antenatal period at the same time as the genetic and neurological explorations. We report the diagnosis of a fetal BTS evoked by the antenatal discovery of a cardiac rhabdomyome. The antenatal cerebral explorations, realized by magnetic resonance imagery (MRI), put evidence cerebral localisations confirming the diagnosis.

摘要

罕见的遗传性疾病,结节性硬化症(BTS)是一种常染色体显性遗传的错构瘤病。横纹肌瘤是儿童和婴儿中最常见的心脏肿瘤,它们是结节性硬化症最早期的表现形式之一。它们有时能在产前与基因和神经学检查同时提示诊断。我们报告了一例因产前发现心脏横纹肌瘤而引发的胎儿结节性硬化症的诊断。通过磁共振成像(MRI)进行的产前脑部检查发现了脑部病变,从而证实了诊断。

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