Journal
JOURNAL OF CHILD NEUROLOGY
Volume 30, Issue 9, Pages 1192-1195Publisher
SAGE PUBLICATIONS INC
DOI: 10.1177/0883073814544703
Keywords
early infancy; subependymal giant cell astrocytomas; tuberous sclerosis complex; everolimus; mammalian target of rapamycin
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Subependymal giant cell astrocytomas are benign tumors often observed with tuberous sclerosis complex. These tumors are rarely diagnosed during fetal life or early infancy. Until recently, the only available treatment has been surgical resection. Current clinical research has demonstrated that everolimus can induce these tumors' regression. We report a 19-month-old boy with tuberous sclerosis complex. At 2 months of age, he presented with congenital subependymal giant cell astrocytoma that was complicated by refractory epilepsy and severe mental retardation. Treatment with everolimus was started when he was 10 months old. Three months after initiating everolimus, the tumor was significantly reduced in size, and the reduction was subsequently maintained. His seizures decreased and he showed cognitive and developmental improvement. No severe adverse events have been observed to date. Everolimus has promise as an effective alternative to surgery for subependymal giant cell astrocytomas during early infancy.
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