Background: Subependymal giant cell astrocytomas (SEGA) are slow-growing tumors, which can cause obstructive hydrocephalus in patients with tuberous sclerosis complex (TSC). These tumors require routine surveillance with magnetic resonance imaging. Current consensus guidelines recommend treatment of asymptomatic SEGAs with an mechanistic target of rapamycin (mTOR) inhibitor because these medications have demonstrated efficacy and safety in multiple prospective clinical trials. For symptomatic SEGAs, standard therapy typically involves surgical resection of the tumor to relieve mass effect and resolve hydrocephalus. However, resection can be associated with significant perioperative morbidity and complications. There are anecdotal reports of using mTOR inhibitors to reduce tumor size in preparation for surgery, but prospective studies comparing sole mTOR inhibitor therapy with surgical management have not been completed.
Methods: Here, we present a seven-year-old boy with a large, symptomatic SEGA which was treated acutely with everolimus.
Results: Everolimus treatment resulted in rapid reduction in tumor size, symptomatic improvement, and decrease in cerebrospinal fluid protein.
Conclusions: Everolimus can effectively reduce tumor size, decrease cerebrospinal fluid protein, and allow successful ventriculoperitoneal shunt placement without the need for surgical resection of a symptomatic SEGA.
Keywords: everolimus; hydrocephalus; mTOR inhibitor; subependymal giant cell astrocytoma (SEGA); tuberous sclerosis.
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