Delayed diagnosis of tuberous sclerosis complex in a young adult with long-term refractory epilepsy: a case report

Aggregator

10 Nov 2026 0 comments

CONCLUSIONS: TSC may manifest insidiously for years with refractory epilepsy as its only prominent clinical feature. Comprehensive screening consisting of thorough cutaneous examination, standardized cranial imaging and molecular genetic testing is mandatory for early identification of this disorder. Individualized antiseizure regimens combined with mechanistic target of rapamycin (mTOR) inhibitors can significantly improve seizure control and long-term clinical outcomes in TSC patients.