Snapshot A 1-year-old boy presents to the pediatric emergency department with abnormal shaking. The parents decribe these shaking episodes as sudden and brief symmetric contractions of his upper and lower extremities. The infant sustains the contraction for a few seconds and subsequently relaxes. On physical examination he continues to have these spells and is treated with midazolam. Laboratory testing is unremarkable. After these episodes subside, he undergoes an EEG, which demonstrates hypsarrhythmia. An MRI brain with and without gadolinium testing demonstrates cortical dysplasia. Genetic testing is remarkable for a TSC1 mutation. Introduction Definition neurocutaneous autosomal dominant disease that can affect any organ Epidemiology Incidence neurologic disease is the most common cause of death renal disease is the second most common cause of death Etiology TSC1 mutation encodes hamartin on chromosome 9 TSC2 mutation encodes tuberin on chromosome 16 Pathogenesis normally, hamartin and tuberin form a complex that down regulates mTOR signaling login to view 1 more bullet Presentation Symptoms/physical exam central nervous system login to view 7 more bullets cardiac login to view 3 more bullets renal login to view 2 more bullets dermatologic login to view 4 more bullets Imaging MRI brain with and without gadolinium findings login to view 2 more bullets MRI of the abdomen findings login to view 1 more bullet Studies Genetic testing confirms the diagnosis Differential Other causes of seizures differentiating factors login to view 5 more bullets Treatment Medical corticotropin login to view 5 more bullets Complications Seizures Obstructive hydrocephalus End stage renal disease