title: [Tuberous sclerosis].
abstract: Tuberous sclerosis is a polymorphic, dominantly inherited syndrome caused by an inactivating mutation in a tumor suppressor gene. The disease involves benign tumors in several distinct organs such as the skin, kidneys, heart and central nervous system. The tumors interfere with organ function, but only some exhibit a significant tendency to grow. The clinical picture of tuberous sclerosis varies from nearly symptomless to a severe disease. Treatment of growing tumors associated with tuberous sclerosis is changing significantly, since their growth can be suppressed with rapamycin and its derivatives.
authors.affiliation: HYKS, konsultaatio ja epilepsiaklinikka, lastenneurologian klinikkaryhmä.
authors.forename: Liisa
authors.initials: L
authors.lastname: Metsähonkala
authors.forename: Leena
authors.initials: L
authors.lastname: Valanne
authors.forename: Anna-Kaisa
authors.initials: AK
authors.lastname: Anttonen
mesh_terms: D003937:Diagnosis, Differential; D006801:Humans; D007166:Immunosuppressive Agents / Q000627:therapeutic use; D008279:Magnetic Resonance Imaging; D020123:Sirolimus / Q000627:therapeutic use; D014402:Tuberous Sclerosis / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
chemical_list: D007166:Immunosuppressive Agents; D020123:Sirolimus