Nelson Textbook of Pediatrics 22nd Edition | TSC1 (hamartin, 9q34) or TSC2 (tuberin, 16p13) → mTOR overactivation. Diagnostic criteria (major/minor). Clinical: hypomelanotic macules, facial angiofibromas, shagreen patch, cortical tubers, subependymal nodules, SEGA, cardiac rhabdomyoma, renal angiomyolipoma, lymphangioleiomyomatosis. Treatment: vigabatrin (infantile spasms), everolimus (SEGA, AML, refractory seizures), surgery.
🌐 paeds.online — Pakistan's Pediatric Platform