Percorsi clinici
L’everolimus nel trattamento dell’epilessia in un bambino con sclerosi tuberosa
The use of everolimus in the treatment of epilepsy in a child affected by tuberous sclerosis
Paolo Ricciardelli1, Sara Pusceddu1, Chiara Romeo2, Andrea Zucchini1, Federico Marchetti1
1UOC di Pediatria e Neonatologia, Ospedale di Ravenna e Faenza, AUSL della Romagna
2SSD di Neuroradiologia, Ospedale di Ravenna, AUSL della Romagna
Novembre 2016 - pagg. 579 -584
Abstract
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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Corrispondenza: paolo.ricciardelli@auslromagna.it