Everolimus y astrocitoma subependimario de células gigantes con degeneración quística.

The tuberous sclerosis complex (TSC) is characterized by the presence of hamartomas in many organs, including the brain; 5% to 20% of those suffering from TSC present subependymal giant cell astrocytoma (SEGA), such finding being associated with a high rate of morbimortality attributable to obstructive hydrocephalus. The classical management of SEGAs consists of surgical resection, such intervention being currently associated with drugs modulating the mTOR signalling pathway. Recent clinical trials have demonstrated that consistent tumor volume reduction has promoted the control of epileptic crises, thereby improving the quality of life. The case of a 16-year-old TSC patient is presented below who was diagnosed with SEGA accompanied by cystic degeneration treated with everolimus following two sequential surgical resections; such management led to a maximum partial response associated with the disappearance of other neurological manifestations. The efficacy of drugs directed to modulate specific molecular targets represent a real treatment option for patients with tuberous sclerosis and SEGA.