Pädiatrische epileptische Enzephalopathien mit Manifestation oberhalb des Neugeborenenalters: ein Up-date

Zusammenfassung

Entwicklungs-und epileptische Enzephalopathien manifestieren sich überwiegend bereits im Säuglings-und frühen Kleinkindesalter. Mit der neuen ILAE-Klassifikation der Epilepsien konnten epileptische Enzephalopathien sowohl hinsichtlich des elektroklinischen Phänotyps als auch des ätiologischen Spektrums und assoziierter Komorbiditäten genauer definiert werden. Einige elektroklinischer Entitäten wie das West-Syndrom oder das Dravet-Syndrom können auf der Basis ihres Genotyps inzwischen als spezifische Enzephalopathien klassifiziert werden. Das EEG stellt eine wichtige Zusatzdiagnostik in der Abklärung einer epileptischen Enzephalopathie dar. Es hat einen besonderen Stellenwert für die Diagnose von Komplikationen wie z. B. subklinischer Anfälle oder eines Status epilepticus sowie für ein adäquates Therapiemonitoring. Der Betrag fasst anhand ausgewählter pädiatrischer Epilepsiesyndrome aktuelle Aspekte zur Komplexität der pädiatrischen epileptischen Enzephalopathien und den Stellenwert der EEG-Diagnostik zusammen.

Abstract

Developmental and epileptic encephalopathies represent complex and neurodegenerative disorders characterized by onset of refractory seizures usually in the first year of life and associated with motor and intellectual disability. The new ILAE classification of seizures and epilepsies proposed a revised definition of epileptic encephalopathies including electro-clinical phenotype as well as etiological spectrum and associated comorbidities. Modern genetic techniques led to the identification of a precise genotype in several electro-clinical syndromes such as West syndrome and Dravet syndrome. EEG continues to play a specific role as an additional tool in diagnosis and management of epileptic encephalopathies with special focus on the diagnosis of complications such as subclinical seizures and status epilepticus as well as treatment monitoring. This article reviews current aspects of complex pediatric epileptic encephalopathies and the significance of EEG monitoring.

Schlüsselwörter

West-Syndrom - Dravet-Syndrom - Landau-Kleffner-Syndrom - CSWS - Lennox-Gastaut-Syndrom

Key words

West syndrome - Dravet syndrome - Landau-Kleffner syndrome - CSWS - Lennox-Gastaut syndrome

Publication History

Article published online:
13 September 2021

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