Snapshot A newborn presents with poor feeding as well as mixed flexor extensor spasms shortly after birth. On physical exam you notice a seemingly well appearing newborn that has several hypopigmented macules on his skin. Introduction An autosomal dominant disease with variable penetrance TSC1 gene mutation in hamartin TSC2 gene mutation in tuberin Characterized by derm facial angiofibromas (adenoma sebaceum) hypopigmented macules (Ash leaf patches) shagreen spots (leathery cutaneous thickening) visceral cardiac rhabdomyomas (high yield association) angiomyolipomas of the kidney neuro intracranial calcifications intracranial tubers seizures West syndrome (infantile spasms) hypsarrythmia on EEG common in tuberous sclerosis treat with ACTH to decrease CRH release mental retardation giant cell astrocytomas Treatment Management manage seizures if present no specific management for underlying cause mammalian target of rapamycin is an emerging potential treatment