P24.09: Neurosonographic findings in fetal tuberous sclerosis complex
نویسندگان
چکیده
منابع مشابه
Fetal 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...
متن کاملMyocardial Fatty Foci in Tuberous Sclerosis Complex: Imaging Findings
Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic syndrome. The hallmark of the disease is multiple hamartomatous lesions in multiple organ systems. Common cardiac manifestations of TSC are rhabdomyomas, which are a benign tumor of striated muscle. In some patients with TSC, myocardial fatty foci (MFF) deposition has been described with or without the presence of rhabdomyoma...
متن کاملThe tuberous sclerosis complex.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated t...
متن کاملTuberous sclerosis complex.
Contrast enhanced computed tomography revealed a large well-circumscribed heterogenous retroperitoneal mass measuring 25 × 20 cm arising from the left kidney with predominant fat attenuation. Multiple smaller lesions were seen in the opposite kidney. Features were suggestive of diffuse angiomyolipomatosis of the kidneys. Hypodense lesions were also seen involving the lungslymphangioleiomyomatos...
متن کاملTuberous Sclerosis Complex in Autism
OBJECTIVE To study the prevalence rate of tuberous sclerosis complex in autistic disorder. METHODS We studied one cohort of children followed up since 2005 until 2009, with autistic disorder, to determine the incidence of tuberous sclerosis complex. We established an autistic disorder registry in 2005 at China Rehabilitation Research Center. During the 4-year period (2005-2009), we collected ...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2017
ISSN: 0960-7692
DOI: 10.1002/uog.18246