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- W2763338188 abstract "Objective: Tuberous sclerosis complex (TSC) is an autosomal dominant, genetic disorder caused by mutations in TSC1 or TSC2, which result in constitutive activation of the mammalian target of rapamycin complex 1 (mTORC1), causing benign tumors (hamartomas) most commonly in the brain, kidneys, lungs, and skin. SEGAs typically arise from subependymal nodules in the area of the foramen of Monro and occur in 5–20% of patients with TSC. Recent studies support the use of Everolimus for SEGA associated with TSC and suggest it might represent promising treatment. Methods: All three of our patient was treated with Everolimus according to our own protocol (adopted Novartis Pharmaceuticals Protocol, 2013) with starting a dose of 4.5 mg/m2 per day and titrated to a serum concentration between 5 and 15 ng/mL. Laboratory follow up included CBC, liver profile, electrolytes and lipid profile. First MRI brain done before Everolimus was started, and F/U MRI done at 3, 6, and 12 months after treatment onset, respectively. We evaluated seizure frequency, MRI finding and adverse effects including standard laboratory parameters. Results: Two of our patients became seizure free after Everolimus was started and 3rd one decreased seizure frequency. MRI finding reveled 30–50% size regression of SEGA in 2 patients, noted at 3 months F/U and no further decreasing after 1 year F/U was discerned. In 3rd one no size change of SEGA was achieved, but total resolution and regressive course of some tuberous nodules were found. No one side effect, except hypercholesterolemia was detected, with levels of 4.7–7.2 mmol/L, but have not required treatment withdrawal. One patient had previous cholesterol level on the higher side. Conclusion: Everolimus continues to demonstrate a sustained effect on SEGA tumor reduction. It remained well-tolerated with mild side effects such as hypercholesterolemia in all our patient and did not require medical treatment or reduction of Everolimus dosage." @default.
- W2763338188 created "2017-10-20" @default.
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- W2763338188 date "2017-06-01" @default.
- W2763338188 modified "2023-10-18" @default.
- W2763338188 title "Everolimus treatment in patient with tuberous sclerosis complex and giant cell astrocytoma (SEGA) – Kuwait experience" @default.
- W2763338188 doi "https://doi.org/10.1016/j.ejpn.2017.04.1278" @default.
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