Objective To evaluate the efficacy of mTOR inhibitors [Sirolimus and Everolimus] in the treatment of renal angiomyolipomatosis [AML] in a cohort of children with tuberous sclerosis complex [TSC] and its effect on epilepsy and adenoma sebaceum.
Methods All children with TSC presenting to a tertiary paediatric hospital, who met criteria for treatment of renal AML with mTOR inhibitors were identified. Demographic information, clinical features at presentation and follow up, seizure burden, anti-epileptic drug [AED] use, co-morbidities, and response to medication were reviewed.
Results 6 children with TSC on treatment for renal AML were identified. [6 females-Age range 11–17 at last clinical review]. All children had seizures as their first presenting symptom-3 with infantile spasms and 3 with focal seizures. 5 children had severe developmental delay, learning difficulties and challenging behaviour, 2 of whom had autism. All children commenced on mTOR inhibitors between the ages of 7–16 years. 5 children showed typical multiple subcortical tubers on MRI scan. None of them had subependymal giant cell astrocytoma (SEGA). All children had stable renal disease during the period of observation. 2 children with adenoma sebaceum reported improvement in appearance. No side effects were noted due to medication. 4 children were seizure free at the start of mTOR inhibitors and maintained seizure freedom until last clinical review despite early onset intractable epilepsy requiring multiple AEDs. AEDs were completely withdrawn in two of these children uneventfully. One child with medically refractory multifocal epilepsy showed a dramatic improvement since commencing mTOR inhibitors and has started to wean AEDs. Follow up information was incomplete in one child. All children were reported to be brighter and have improved alertness.
Conclusion mTOR inhibitors stopped progression of renal AML and induced stable renal disease and in some AML regressed somewhat during therapy. 2 children with adenoma sebaceum reported improvement in appearance indicating its regression. There was also an observed benefit on epilepsy with one child showing dramatic improvement in epilepsy and others showing continued seizure freedom enabling withdrawal of anticonvulsants which is unusual in children who previously had intractable epilepsy. This may indicate that mTOR inhibitors may be effective agents in controlling epilepsy.
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