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 login to view 1 more bullet Epidemiology Incidence login to view 2 more bullets Etiology TSC1 mutation login to view 1 more bullet TSC2 mutation login to view 1 more bullet Pathogenesis login to view 2 more bullets Presentation Symptoms/physical exam login to view 20 more bullets Imaging MRI brain with and without gadolinium login to view 3 more bullets MRI of the abdomen login to view 2 more bullets Studies Genetic testing login to view 1 more bullet Differential Other causes of seizures login to view 6 more bullets Treatment Medical login to view 6 more bullets Complications Seizures Obstructive hydrocephalus End stage renal disease