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Metabolische Epilepsien im Kindes- und Jugendalter

Metabolic epilepsy in childhood and adolescence

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Zusammenfassung

Epilepsien werden nur selten durch angeborene Stoffwechselerkrankungen verursacht. Meist ist die Epilepsie dann nicht das einzige Symptom eines Stoffwechseldefekts, sondern es finden sich weitere Auffälligkeiten, die zur Diagnosefindung beitragen. Der vorliegende Beitrag gibt eine Übersicht über metabolische Epilepsien mit Manifestation in Säuglings-, Kleinkind-, Schul- und Jugendalter. Neben den zugrunde liegenden Pathomechanismen, den genetischen Ursachen und möglichen Therapieoptionen werden insbesondere die für die Diagnosefindung wichtigen klinischen Symptome sowie laborchemischen und apparativen Befunde dargestellt.

Abstract

Epilepsies are only rarely caused by inborn errors of metabolism; however, knowledge about such metabolic epilepsies is important for treatment, prognosis estimation, and genetic counselling. Usually, epilepsy is not the only symptom of a neurometabolic disease. In most disorders additional features help making the diagnosis. This review provides an overview about metabolic epilepsies manifesting in infancy, childhood, and adolescence. Pathomechanisms, genetic causes, and potential treatment options are presented, while special focus is given to clinical symptoms, laboratory and other paraclinical findings crucial for a correct diagnosis.

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Einhaltung der ethischen Richtlinien

Interessenkonflikt. A. Hahn gibt an, dass kein Interessenkonflikt besteht. Der Beitrag enthält keine Studien an Menschen oder Tieren.

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  1. Abteilung Kinderneurologie, Epileptologie und Sozialpädiatrie, Zentrum Kinderheilkunde des UKGM, Standort Gießen, Justus-Liebig-Universität, Feulgenstr. 10–12, 35392, Gießen, Deutschland

    A. Hahn

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Hahn, A. Metabolische Epilepsien im Kindes- und Jugendalter. Z. Epileptol. 27, 170–177 (2014). https://doi.org/10.1007/s10309-014-0370-6

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  • DOI: https://doi.org/10.1007/s10309-014-0370-6

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