Zusammenfassung
Angeborene neurometabolische Erkrankungen und epileptische Anfälle des Neugeborenen sind selten. Nichtsdestotrotz erfordern sie unmittelbare diagnostische Konsequenzen für eine zeitnahe ätiologische Klärung, um eine mögliche ursächliche Therapie einleiten zu können. Dargestellt werden die angeborenen neurometabolischen Erkrankungen, bei denen epileptische Anfälle auftreten. Auf richtungweisende EEG-Befunde, die eine Einordnung erleichtern, wird hingewiesen, und die diagnostischen Tests werden stichwortartig aufgeführt. Genetisch bedingte Enzephalopathien des Neugeborenen ohne richtungführende Stoffwechselbefunde werden nicht aufgenommen.
Abstract
Congenital neurometabolic disorders and epileptic seizures are rare in newborns. Nevertheless, immediate diagnosis is required in order to clarify the etiology and thus commence appropriate therapeutic treatment. The presentations includes congenital neurometabolic disorders in newborns involving epileptic seizures. Reference is made to electroencephalography (EEG) findings that facilitate diagnosis and a short description of the diagnostic tests is given. Genetically caused encephalopathy in newborns is not documented, only neurometabolic disorders.
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Interessenkonflikt. G. Kurlemann gibt an, dass kein Interessenkonflikt besteht. Der Beitrag enthält keine Studien an Menschen oder Tieren.
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Kurlemann, G. Metabolische Epilepsien in der Neonatalperiode. Z. Epileptol. 27, 162–169 (2014). https://doi.org/10.1007/s10309-014-0369-z
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DOI: https://doi.org/10.1007/s10309-014-0369-z