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Epilepsy in children--when should we think neurometabolic disease?

作者信息

Dhamija Radhika, Patterson Marc C, Wirrell Elaine C

机构信息

Division of Child and Adolescent Neurology, Mayo Clinic Children's Center, Rochester, MN 55905, USA.

出版信息

J Child Neurol. 2012 May;27(5):663-71. doi: 10.1177/0883073811435829. Epub 2012 Feb 28.

Abstract

Seizures are often the first manifestation of central nervous system dysfunction and are common in many inborn errors of metabolism, especially in neonates, infants, and children. A high index of suspicion is required to diagnose inborn errors of metabolism as the cause of seizures. It is also important to recognize these metabolic disorders early, as specific disease-modifying treatments are available for some with favorable long-term outcomes. This review discusses the classification of metabolic disorders as a cause of seizures based on pathogenesis and age and proposes a tiered approach for cost-effective diagnosis of metabolic disorders.

摘要

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