tuberous sclerosis

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tuberous sclerosis

[′tü·bə·rəs sklə′rō·səs]
(medicine)
A familial neurocutaneous syndrome characterized in its complete form by epilepsy, adenoma sebaceum, and mental deficiency, and pathologically by nodular sclerosis of the cerebral cortex. Also known as Bourneville's disease.
McGraw-Hill Dictionary of Scientific & Technical Terms, 6E, Copyright © 2003 by The McGraw-Hill Companies, Inc.
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In conclusion, this study demonstrates that everolimus is effective in the treatment of epileptic seizures in patients with tuberous sclerosis complex. Everolimus, a disease-modifying drug targeting the underlying molecular pathology of tuberous sclerosis complex, represents a new treatment option for patients with treatment-resistant seizures associated with tuberous sclerosis complex.
Hepatobiliary and pancreatic: Hepatic and renal angiomyolipomas associated with tuberous sclerosis complex. J Gastroenterol Hepatol 2014;29:421.
Tuberous sclerosis complex (TSC), also called Bourneville's (Bourneville-Pringle) disease, is a rare autosomal dominant neurocutaneous syndrome.
Diagnosis, monitoring and treatment of tuberous sclerosis complex (TSC): A South African consensus response to international guidelines.
She was a known case of tuberous sclerosis complex. She was on antiepileptic medication.
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia.
The cutaneous manifestations of tuberous sclerosis complex include angiofibromas, forehead fibrous plaques, hypomelanotic macules or confetti-like lesions, periungual fibromas and shagreen patches.
The study group (TSC-G) consists of 4 children with tuberous sclerosis complex at the age between 2 years 10 months and 7 years; mean age: 5 yrs 1.5 mo.
Fourteen sequential patients with a definite diagnosis of TSC, as defined by the International Tuberous Sclerosis Complex Consensus Group [14], from our TS clinic at the Royal United Hospital in Bath started using sirolimus ointment from May 2014.
Of note, mutations in the TSC1 or TSC2 gene are responsible for the tuberous sclerosis complex (TSC), a disease characterized by a variety of benign tumors found in multiple organs including the brain, kidneys, liver, heart, and lungs [13].
This is the case of Tuberous Sclerosis Complex (TSC), hemimegalencephaly (HME), focal cortical dysplasia (FCD), Pretzel syndrome (Ps), and familial focal epilepsy with variable foci (FFEVF) [112-117].
Tuberous sclerosis complex results in benign tumours on the brain, eyes, skin, kidneys, heart and lungs, and can also result in epilepsy, autism and learning difficulties.