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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Tuberous Sclerosis | 17A0 Case 17 History
Case 17 History ---- The patient is a 2 yo female with a history of tuberous sclerosis (TSC1; c.2389C>T; p.Gln797*, mosaic in blood) resulting in medically refractory epilepsy. She began having seizures at 5 months of age involving multiple clusters of brief spells of eye blinking and staring which lasted up to 30 sec and would self resolve. She has had ongoing epilepsy which was difficult to control. Repeat MRI 2 months prior to admission demonstrated numerous cortical dysplasias in all cerebral lobes with a dominant left parietal cortical tuber with corresponding hypometabolism on PET. In addition, subependymal nodular heterotopia were seen. She was reviewed in epilepsy conference and it was felt the best course would be to perform surgery to remove the dominant left parietal tuber. At that time she was being treated with cenobamate, clobazam, keppra and lacosamide. She underwent left craniotomy for tuber resection with intraoperative mapping and monitoring.
