P25.19: Prenatal ultrasonographic diagnosis of fetal tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Multimodal Imaging in the Prenatal Diagnosis of Tuberous Sclerosis Complex
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 pat...
متن کاملFetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.
OBJECTIVES We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. STUDY DESIGN We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma b...
متن کاملprenatal diagnosis of tuberous sclerosis by fetal echocardiography with an unusual clinical course after birth
conclusions this case report underscores the role of fetal echocardiography in the prenatal diagnosis of cardiac disease and illustrates rhabdomyomas in a tuberous sclerosis patient. rhabdomyomas are histologically benign; however, they may cause severe arrhythmia even when they are regressing. case presentation our tuberous sclerosis patient developed arrhythmia unexpectedly while his tumors w...
متن کاملUltrafast MRI in the prenatal diagnosis of Bourneville's tuberous sclerosis.
The purpose of this report is to highlight the utility of prenatal MRI as an adjunctive imaging modality in the diagnosis and prognosis of Tuberous Sclerosis (TS) (Bourneville's disease). We report a case of TS detected in utero at 30 weeks gestation. A routine ultrasonography at 26 weeks in a 28-year-old primigravida was followed by an ultrafast MRI examination at 30 weeks gestation. Ultrasoun...
متن کاملFetal brain mTOR signaling activation in tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is characterized by developmental malformations of the cerebral cortex known as tubers, comprised of cells that exhibit enhanced mammalian target of rapamycin (mTOR) signaling. To date, there are no reports of mTORC1 and mTORC2 activation in fetal tubers or in neural progenitor cells lacking Tsc2. We demonstrate mTORC1 activation by immunohistochemical detection...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2012
ISSN: 0960-7692
DOI: 10.1002/uog.12112