Tuberous sclerosis complex-successful therapy with everolimus

Introduction: Everolimus is a new treatment option for patients with tuberous sclerosis complex (TS) but data are still limited.

Case Report: We report the case of a 13-year-old girl who presented prenatal with cardiac rhabdomyomas. After mild volume progression during the first months of life rhabdomyomas stabilized and made no functional problems. Clinical diagnosis of TS was confirmed by heterozygote mutation in TSC2 gene (c.4375C>T). cMRI (at age 8 months) revealed hamartomas and disseminated cortical tubers in both hemispheres. At the age of 18 months, subependymal giant cell astrocytoma (SEGA) in both hemispheres were diagnosed. At the age of 12 years, volume of SEGA expanded slowly but the patient had no neurological symptoms. Ultrasound revealed cysts in both kidneys at the age of 18 months, slowly expanding in size and number over the years. Angiomyolipomas (AML) in both kidneys were diagnosed (MRI, ultrasound) at age 10 years. Kidney function was normal. Because of progression in volume (AML right kidney 4 × 2.7 × 2.5 cm) therapy with everolimus was started at the age 12 years. After 3 months, therapy with everolimus (2 mg/m²/d) volume reduction of AML in right kidney as well of SEGA in the brain was documented. No side effects under everolimus were recorded.

Conclusion: Everolimus was started due to an assumed high risk of tumor bleeding in both kidneys. Therapy with everolimus was successful with volume reduction not only of AML in both kidneys but also for SEGA. Cardial rhabdomyomas did not show any regression of size.

The optimal point of commencement for therapy with everolimus in patients with TS is still matter of discussion. In the presented case, early therapy seems to have prevented complications.