1. Sclerosi tuberosa ed everolimus: una nuova storia
- Author
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Marco Carrozzi, Valentina Kiren, Giulia Maria Di Marzio, Elisabetta Cattaruzzi, Paola Costa, and Chiara Cervesi
- Subjects
business.industry ,Pediatrics, Perinatology and Child Health ,Medicine ,business - Abstract
Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder, due to inactivating muta-tions of TSC1 or TSC2 mTOR pathway genes and is characterized by variable multisystem manifestations ranging from hamartomas to malignant neoplasms. It frequently associated to seizures, intellectual disability and behavioural disorders. Surgical treatment has traditionally been used to manage subependymal giant cells astrocytomas (SEGA). The introduction of mTOR inhibitor rapamycin, with its definite role both as primary and as adjuvant treatment, has significantly modified the management opportunities in the clinical practice. It is important to consider both treatment options in a balanced way and not only the SEGA, but also the individual patient and their associated comorbidities. The pros and the cons of both options should be discussed by a multidisciplinary team before establishing an individualized treatment recommendation. The paper reports the case of a patient with an asymptomatic SEGA who was treated with everolimus. The treatment was effective in reducing the size of the tumour, it was safe and well tolerated.
- Published
- 2021
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