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DOI: 10.1055/a-1474-8914
Epilepsien im Säuglingsalter
Eine Übersicht über Ursachen, Differenzialdiagnosen und DiagnostikEpileptic syndromes in infancyA review on aetiology and differential diagnosisZUSAMMENFASSUNG
Epilepsien im Säuglingsalter sind häufig, es kommen sowohl strukturell-metabolische, genetische als auch unklare Epilepsien infrage. Bei einem reichlichen Drittel der Säuglinge mit einer Epilepsie liegt eine epileptische Enzephalopathie, meist mit zusätzlichen Entwicklungsauffälligkeiten zugrunde. Hierzu gehören u. a. das West-Syndrom mit Blitz-Nick-Salaam-Anfällen und einer Hypsarrhthmie im EEG, das Dravet-Syndrom mit Anfällen, welche nicht selten durch Erhöhung der Körpertemperatur getriggert werden und das Ohtahara-Syndrom mit sehr früher Manifestation, Burst-Suppression-Muster im EEG und ungünstiger Prognose. Im klinischen und elektrophysiologischen Bild ähnlich, aber hiervon differerenzialdiagnostisch abzugrenzen sind Vitamin-B6-abhängige Epilepsien, welche unter Substitution mit Pyridoxalphosphat rasch sistieren. Auch Epilepsiesyndrome mit günstiger Prognose wie die benigne infantile Partialepilepsie (Watanabe) mit spontanem Sistieren der Anfälle nach einigen Monaten kommen vor.
Sollte die stufenweise Diagnostik keine Hinweise auf das Vorliegen zerebraler Krampfanfälle ergeben, können differenzialdiagnostisch auch nicht-epileptische Anfälle infrage kommen.
ABSTRACT
Epilepsy is a common condition during the first year of life, and the underlying cause can be of structural, metabolic, genetic, as well as unknown origin. In this age group, epileptic encephalopathies account for about one third of the cases and are then often accompanied by abnormal psychomotor development. Among these epileptic encephalopathies, some of the most common and well-known are West syndrome, showing typical infantile spasms accompanied by hypsarrhythmia in the EEG and developmental regression, Dravet syndrome with seizures often triggered by an increase in body temperature, and Ohthara syndrome having a very poor prognosis with seizures beginning within the first two months of life and the EEG showing a burst-suppression pattern. A similar clinical and electrophysiological presentation may be seen in vitamin B6 dependent epilepsy, that, in contrast to Ohtahara syndrome, is quickly responsive to treatment consisting of substitution with pyrixoxal phosphate. However, epilepsy syndromes such as benign familial infantile epilepsy (Watanabe) may as well have a very favourable prognosis with spontaneous cessation of seizures after the course of a few months.
If diagnostic investigations do not show any signs of cerebral seizures, non-epileptic events should be considered as differential diagnosis.
Schlüsselwörter
Epilepsie - Krampfanfall - BNS-Krämpfe - Dravet-Syndrom - Ohtahara-Syndrom - Säugling - DiagnostikKeywords
Epilepsia - seizures - infantile spasms - Dravet syndrome - Ohtahara syndrome - infant - diagnosticsPublication History
Received: 14 December 2020
Accepted: 21 December 2020
Article published online:
17 June 2021
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