Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex
نویسندگان
چکیده
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder in which benign hamartomas develop in multiple organ systems. Increasingly, stigmata of the disease, such as cardiac rhabdomyomas, are detected on routine prenatal ultrasound. Such a finding should prompt additional imaging studies in order to confirm diagnosis and to identify potential complications, which vary greatly from patient to patient. Early diagnosis allows for accurate parental counseling, coordination of high-level perinatal care, and subspecialty followup. We present a case of TSC in utero wherein access to and use of multiple imaging modalities confirmed diagnosis and allowed the patient to receive optimal care prior to birth.
منابع مشابه
Antenatal MRI in the diagnosis of tuberous sclerosis.
Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous syndrome characterized by multiorgan hamartomas, epilepsy and mental retardation. Prenatal genetic testing for a mutation is laborious, time consuming and not widely available because of the genetic heterogeneity, polymorphism and a high rate of denovo mutations(1,2). We hereby highlight the utility of prenatal magnetic resonance i...
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Background: The primary manifestation of cardiac tumors in embryonic period is a very rare condition. Cardiac rhabdomyomas most frequently arise in the ventricular myocardium, they may also occur in the atria and the epicardial surface. In spite of its benign nature, the critical location of the tumor inside the heart can lead to lethal arrhythmias and chamber obstruction. Multiple rhabdomyomas...
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BACKGROUND Tuberous sclerosis, also known as tuberous sclerosis complex (TSC), is a rare genetic condition that mainly causes hamartomas to develop in different parts of the body. TSC, an autosomal dominant trait with variable penetrance, can adversely affect maternal and fetal outcome. CASE PRESENTATION In this paper, a case of maternal and fetal tuberous sclerosis having fetal cardiac rhabd...
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عنوان ژورنال:
دوره 2012 شماره
صفحات -
تاریخ انتشار 2012