1UOC di Pediatria e Neonatologia, Ospedale di Ravenna e Faenza, AUSL della Romagna
2SSD di Neuroradiologia, Ospedale di Ravenna, AUSL della Romagna
Indirizzo per corrispondenza: firstname.lastname@example.org
Key words: Tuberous sclerosis, Epilepsy, Everolimus, Case report
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder affecting cellular differentia- tion and proliferation, resulting in a variety of hamartomatous lesions that may affect virtually every organ system of the body. TSC is caused by inactivating mutations in one of two genes, TSC1 and TSC2, resulting in increased activity of the mammalian Target of Rapamycin (mTOR). Epilepsy is the most common symptom and also the most common medical disorder in tuberous sclerosis com-plex. The paper presents a case of a 9-year-old male patient with "tuberous sclerosis-complex" (TSC) and drug resistant epilepsy. The first symptoms of epilepsy manifested when the patient was 4 years old. Epilepsy became drug resistant at the age of 9 years, despite polytherapy. The patient was treated with everolimus, a rapamycin analogous, this way a reduction of more than 90 % of seizures, the disappearance of sleep-activated epileptic discharges and cognitive improvement were obtained. Treatment was safe and well tolerated. The dysregulation of mTOR pathway does not induce only the growth of TSC cortical tubers but also involves abnormal cell excitability and the use of mTOR inhibitors could stop the epilepto- genic process and may help to control seizures with an overall improvement in quality of life.
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