Effect of Everolimus on Renal, Cerebral, Skin Lesions and Seizure in Tuberous Sclerosis Complex

Abstract

Tuberous sclerosis complex (TSC) is a genetic disease with prevalence 1/5800 that involve different organs such as skin , brain , heart , kidney , lung and conduce seizure. In brain is seen lesions such as Subependymal nodule(SEN) , Cortical tuber , Subependimal Giant Cell Astrocytoma (SEGA) and Radial migration line(RML). Subependymal Giant Cell Astrocytomas (SEGAs) are slow-growing glioneuronal tumors typically found around the ventricles of the brain, particularly near the foramen of Monro in 15%-20% of patients with tuberous sclerosis complex (TSC). Surgical resection is the standard treatment for these symptomatic tumors. The mTOR inhibitor everolimus can be regarded as an alternative treatment of SEGAs due to the complications of surgery. Materials and Methods: Patients with Tuberous Sclerosis Complex and SEGA enrolled in this study and 6 month after admission of tab everolimus (Afinitor, Novartise) SEGA assessed pre –and post treatment with same radiologist. Renal AML assessed by ultrasound pre –and post treatment with same expert radiologist. Epilepsy assessed with questionaire and EEG by expert pedhatric neurologist. Skin lesions assessed with same dermatologist pre- and post-treatment . Results: In this study, 7 patients (50%) had less than 30% of volume loss in SEGA and 7 patients (50%) had more than 30% of volume loss in SEGA; and 4 of 7 patients of 2th group (28.5%) had response rate of ≥ 50% reduction in SEGA volume (P=0.01). Moreover, 92.9% of the patients had ≥ 50% decrease in the frequency of seizures (P=0.000). The response rates in AML and skin lesion were 14.2% and 50%, respectively.