Seizures and EEG Findings in Inborn Errors of Metabolism: Clues to Differential Diagnosis

Although Inborn Errors of Metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders, frequently refractory to conventional anti-seizure medication with the need to initiate specific treatments based on vitamins or dietary modifications or provision of alternative substrates (to bypass a block). Certain distinctive electro-clinical features might suggest an underlying IEM and even point towards the etiology. Even though biochemical and genetic tests will confirm the definitive diagnosis, EEG has the great advantage to be rapidly available, before the results of these tests. In this eSeminar, cases will be presented illustrating theses distinctive electro-clinical features that may help the clinician to establish an appropriate diagnosis allowing a prompt and specific treatment in order to improve outcome.