OBJECTIVES: To evaluate the efficacy and side effects of oral mammalian target 
of rapamycin (mTOR) inhibitors in children and adolescents with tuberous 
sclerosis complex (TSC) and intractable epilepsy or subependymal giant cell 
astrocytoma (SEGA).
STUDY DESIGN: Single-center series of 13 children and adolescents with TSC who 
received sirolimus or everolimus (mTOR inhibitors). The anticonvulsant response 
was evaluated in 7 patients with TSC and refractory seizures. Six patients with 
SEGAs were treated with either sirolimus or everolimus for nonsurgical 
management. SEGA volumes were assessed longitudinally using 1.5-T magnetic 
resonance imaging.
RESULTS: Of the intractable seizure group (7 patients), 1 patient had >90% 
reduction, 4 had 50%-90% reduction, and 2 had <50% reduction. Three reported 
subjective improvements in learning. By 12 months of treatment, there were 
statistically significant reductions in the SEGA volumes in 4 patients who 
received mTOR inhibitors (P < .04). The mean SEGA volume after 6 months of 
treatment was 2.18 cm(3), which represents 33% reduction in the mean baseline 
volume of 3.26 cm(3). The mTOR inhibitors were well tolerated. Adverse effects 
include dyslipidaemia (3 of 13), gingivitis (1 of 13), anorexia (1 of 13), and 
mild gastrointestinal side effects (1 of 13).
CONCLUSION: This case series suggests that mTOR inhibitors can improve seizures 
in those with TSC and refractory epilepsy. They are also an effective treatment 
for reducing the volume of SEGAs in patients with TSC not amenable to surgery 
with an acceptable side effect profile.