نتایج جستجو برای: tuberous sclerosis complex tsc
تعداد نتایج: 845362 فیلتر نتایج به سال:
tuberous sclerosis complex (tsc) is an autosomal-dominant hereditary disorder. this syndrome is characterized by tumor-like malformations in several organs, as well as the heart. this report summarizes a case of tsc in a premature infant, born at 34 weeks' gestation with ascites. after birth, multiple cardiac mass, subependymal cysts and hypopigmented macules were detected. to our knowledge, th...
Tuberous sclerosis complex (TSC) manifests predominantly as a neurocutaneous disorder. Lymphangioleiomyomatosis (LAM) is a rare pulmonary manifestation of TSC. Imaging evaluation plays an important role in the assessment of patients with tuberous sclerosis complex. In newly diagnosed patients, it helps not only to confirm the diagnosis of TSC, but also helps in identifying clinically significan...
UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous scleros...
how to cite this article: tonekaboni sh, tousi p, ebrahimi a, ahmadabadi f, keyhanidoust z, zamani gh, rezvani m, amirsalari s, tavassoli a, rounagh a, rezayi a. clinical and para clinical manifestations of tuberous sclerosis: a cross sectional study on 81 pediatric patients. iran j child neurol 2012; 6(3): 25-31. objective migraine is a disabling illness that causes absence from school andaffe...
Investigators from the NINDS and the Tuberous Sclerosis Alliance sponsored a workshop in March 2015, which joined basic scientists and clinicians with expertise in various aspects of Tuberous Sclerosis Complex (TSC), in order to assess the current state of TSC research and to set future goals.
how to cite this article: ravi a, veerabhadra d, richa g, ngangbam s. a rare occurrence of shagreen patch on the face of apediatric patient with tuberous sclerosis. iranian journal of child neurology 2012;6(1):39-42. tuberous sclerosis is a neurocutaneous syndrome characterized by a clinical spectrum varying from severe mental retardation and incapacitating seizures to normal intelligence and l...
Classical angiomyolipomas are benign tumours composed of various tissues, including components of fat, abnormal blood vessels and smooth muscle cells. They are often found in association with tuberous sclerosis complex (TSC). The present study reports a male patient affected by TSC with intermittent, massive chylous pleural effusions, who developed recurrent mediastinal angiomyolipomas. The tum...
A middle aged female from Northern India, presented to the Outpatient department with cutaneous lesions typical of Tuberous Sclerosis Complex (TSC) without intellectual disability. She had multiple skin which are enlisted below:
Tuberous sclerosis complex (TSC) is a rare, auto-somal dominant, hereditary neurocutaneous syndrome, in which hamartomas develop in various organs. Cutaneous features and computed tomography (CT) findings are of great value in the diagnosis of TSC. The present study reported an unusual case of multiple organ abnormalities in a patient with TSC. Radiological findings indicated the presence of ce...
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