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Tuberous sclerosis

This brain belongs to an 18-month-old pediatric patient with epilepsy that suffers from a rare yet complex genetic condition called tuberous sclerosis. It causes benign tumors to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs, and skin.Once they are found in the brain, one would expect symptoms like seizures, behavioral changes, intellectual disabilities and developmental delay to occur. The disease has a genetic nature caused by a mutation that codes for the proteins hamartin and tuberin, both being tumor growth suppressors. Once they are knocked, the normal regulation of cell proliferation is out of proportion, hence the development of cortical tubers, subependymal hamartomas, and facial angiofibromas (very specific for diagnosis). Neurosurgical intervention is often indicated in order to control seizures and symptoms caused by the benign brain tumors.