Säuglingsepilepsien

Zusammenfassung

Epilepsien des ersten Lebensjahres sind in ihrer Entstehung in besonderer Weise (geprägt von Einflüssen) abhängig von einer tiefgreifenden prä- und postnatalen strukturellen sowie funktionellen Reifung des Gehirns. Im Gegensatz zur späteren Entwicklung disponiert diese zu einer deutlich (höheren) größeren Vulnerabilität gegenüber einer Vielzahl potenziell epileptogener Noxen. Abhängig von Zeitpunkt, Art und Ausmaß der läsionellen Einwirkung können diese Noxen zu Epilepsien mit sehr unterschiedlichem klinischem Phänotyp führen, der häufig von einer komplexen, motorischen und kognitiven Entwicklungsstö-rung begleitet wird. Durch die in letzter Zeit rasch zunehmenden Fortschritte der molekularbiologischen Grundlagenforschung ist deutlich geworden, dass ein erheblicher Anteil ätiologisch ungeklärter Epilepsien des Säuglingsalters genetisch bedingt ist. Der geneti-sche Defekt kann dabei entweder zu einer primären Störung zellulärer bzw. subzellulärer Basismechanismen führen oder diese sekundär durch einen Stoffwechseldefekt oder eine kortikale Malformation hervorrufen. Kortikale Malformationen führen häufig bereits in den ersten Lebensmonaten zu einer Epilepsie, die oft nur schwer medikamentös behandelbar ist und bei erwiesener Pharmakoresistenz die Frage nach der Möglichkeit einer epilepsiechirurgischen Therapie stellt. In späteren Beiträgen soll über genetische Störungen epileptischer Basis-mechanismen, metabolische Ursachen von Säuglingsepilepsien und über die häufigsten Epilepsie-Syndrome des ersten Lebensjahres berichtet werden.

Summary

The genesis of epilepsies in the first year of life is characterized by influences on the profound structural and functional pre- and postnatal development of the brain. As opposed to a later development there is a markedly increased vulnerability against numerous potentially epileptogenic noxae, particularly hypoxic-ischemic and consequential inflammatory or pathogenic origin. Depending on time, type and extent of the lesion, these noxae lead to epilepsies with a clinical phenotype of varying severity and are accompanied by diverse, particularly physical and cognitive developmental disorders. Due to the rapid progress in molecular biological fundamental research an increasing number of epilepsies in infants with so far unexplained etiology is perceived as primarily genetic. The genetic defect can directly lead to a dysfunction of cellular and subcellular basic mechanisms, or cause a dysfunction via a metabolic defect or as a result of cortical malformation. We will present a short survey of epileptic basic mechanisms, then go on to describe congenital malformations of the cerebral cortex that are highly likely to lead to epilepsy within the first months after birth and demand high standards of medical treatment – and, in case of proven pharmacoresistance, are treated surgically. In further articles we will talk about the genetic and metabolic reasons as well as diagnostics, therapy and prognosis of the clinically relevant epilepsy syndromes of the first year of life.

Schlüsselwörter

Epilepsie - Epileptogenität - kortikale Malformation

Keywords

Epilepsy - epileptogenesis - cortical malformation

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