Tuberous sclerosis is an autosomal dominant genetic disorder that is characterized by epilepsy, mental retardation and facial angiofibromas. A read is counted each time someone views a publication summary such as the title, abstract, and list of authors, clicks on a figure, or views or downloads the fulltext. Tuberous sclerosis was classically described as presenting in childhood with a triad vogt triad of. Pdf the tuberous sclerosis in the first descriptions by. Tuberous sclerosis complex tsc or bournvillepringle disease is a. In scotland a national audit project has been undertaken to devise evidencebased guidelines for the clinical management of patients with tuberous sclerosis ts, a dominantly inherited. Toutes les informations et documents contenus dans ce site sont fournis uniquement a titre dinformation. Haddour l, haddour n, doghmi n, cherti m, benmimoun eg, arharbi m. All structured data from the file and property namespaces is available under the creative commons cc0 license. First descriptions of tuberous sclerosis by desire. The authors state that the condition is not rare in iran. Tuberous sclerosis complex presenting as bilateral. Tuberous sclerosis, also known as tuberous sclerosis complex or bourneville disease, is a neurocutaneous disorder phakomatosis characterized by the development of multiple benign tumors of the embryonic ectoderm e.
A case of tuberose sclerosis with typical skin manifestations and epilepsy is described. Please hover over the pins on the map or the use the complete list below the map to find contact information for the tsc organization in your area. In the above passage, bourneville and brissaud emphasize the. Files are available under licenses specified on their description page. Tuberous sclerosis complex tsc is a rare multisystem autosomal dominant genetic disease that causes noncancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin. Encephalite ou sclerose tubereuse des circonvolutions cerebrales. A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease.