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Die ILAE-Klassifikation fokaler kortikaler Dysplasien im klinischen Gebrauch

The ILAE classification of focal cortical dysplasia in clinical routine

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Zusammenfassung

Sechs Jahre nach Veröffentlichung soll der Nutzen der ILAE-Konsensus-Klassifikation Fokaler Kortikaler Dysplasien (FCD) bewertet werden. FCDs sind häufige Ursachen frühkindlicher und medikamentös schwierig zu behandelnder fokaler Epilepsien. Die neurochirurgische Therapie bietet oftmals eine große Chance auf dauerhafte Heilung. Dies ist aber wesentlich vom histopathologischen Subtyp abhängig, und das Resektionsfeld muss durch umfassende prächirurgische Diagnostik definiert werden, z. B. durch die vorläufige Abschätzung der Art der FCD anhand des MRT und ihre Nachbarschaftsbeziehung zu eloquenten Arealen, sowie durch iktale und interiktale EEG-Befunde. Die ILAE-Klassifikation grenzt 3 histomorphologisch unterschiedliche FCD-Subtypen ab, welche nach aktuellem Kenntnisstand auch unterschiedlichen Pathomechanismen zugrunde liegen. FCD Typ 1 sind seltene Erkrankungen bei weit überwiegend jungen Kindern mit radiologisch, elektro-klinisch als auch pathologisch schwierig zu diagnostizierenden Epilepsien – mit deutlich geringeren Chancen auf eine postoperative Anfallsfreiheit als dies bei einer FCD Typ 2 der Fall ist. Die FCD Typ 2 stellt eine klinisch-pathologisch gut charakterisierte und chirurgisch oftmals gut behandelbare Gruppe dar. Molekulargenetisch finden sich Mutationen im mTOR-Signalweg, was daran denken lässt, dass zukünftig evtl. eine zielgerichtete medikamentöse Therapie möglich wird. Währenddessen sind assoziierte FCD Typ 3 in der wissenschaftlichen Literatur zwar häufig beschrieben, ihre Entstehung und Eigenständigkeit jedoch umstritten. Klinischer Verlauf und neurochirurgischer Therapieerfolg sind meist von der Hauptläsion abhängig, welche mit Hippocampussklerosen (HS), epilepsieassoziierten Tumoren (LEAT), vaskulären Fehlbildungen, Enzephalitiden und anderen frühkindlichen erworbenen Läsionen ein breites Spektrum abdecken. Eine Revision der bestehenden ILAE-Klassifikation wird bereits diskutiert, v. a. um dem Einzug molekulardiagnostischer Methoden wie in vielen anderen Bereichen der Medizin gerecht zu werden. Wesentliche Änderungen im bestehenden Prinzip in der Einteilung der drei FCD-Typen sind allerding nicht zu erwarten.

Abstract

We would like to discuss the benefits as well as ongoing challenges of the International League Against Epilepsy (ILAE) first consensus classification of focal cortical dysplasia (FCD) published in 2011. FCD is a frequent cause of early onset and drug-resistant focal epilepsy. Success of neurosurgical therapy, however, largely depends on the clinico-pathological subtype, which has been classified into three major subtypes: FCD type 1 is a rare disease frequently observed in young children and is a radiologically, electroclinically and histopathologically difficult to diagnose epilepsy. Post-surgical seizure control is less successful compared to FCD type 2A or FCD type 2B. These FCD type 2 variants are radiologically, electroclinically and histopathologically well described and probably share molecular mutations with other mTORopathies, such as hemimegalencephaly and tuberous sclerosis complex. FCD type 3 is associated with other principal lesions, such as hippocampal sclerosis (FCD 3A), epilepsy-associated tumors (FCD 3B), vascular malformations (FCD 3C) and other lesions acquired during early life (FCD 3D). The pathomechanism remains to be elucidated and success of surgical therapy is often similar to that of the principal lesions rather than being a distinct feature. An up-coming revision of the ILAE classification is currently under discussion to cover progress in molecular diagnostics (as shown in other medical disciplines, please refer to the tumor chapter of this issue); however, major changes in the three-tiered classification scheme are not expected.

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Authors and Affiliations

  1. Neuropathologisches Institut, Universitätskliniken Erlangen, Schwabachanlage 6, 91054, Erlangen, Deutschland

    Ingmar Blümcke & Katja Kobow

  2. Klinik für Neuropädiatrie und neurologische Rehabilitation, Epilepsiezentrum für Kinder und Jugendliche, Schön Klinik Vogtareuth, Vogtareuth, Deutschland

    Hans Holthausen

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  1. Ingmar Blümcke
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  2. Katja Kobow
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  3. Hans Holthausen
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Correspondence to Ingmar Blümcke.

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I. Blümcke, K. Kobow und H. Holthausen geben an, dass kein Interessenkonflikt besteht.

Dieser Beitrag beinhaltet keine von den Autoren durchgeführten Studien an Menschen oder Tieren.

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Blümcke, I., Kobow, K. & Holthausen, H. Die ILAE-Klassifikation fokaler kortikaler Dysplasien im klinischen Gebrauch. Z. Epileptol. 30, 200–207 (2017). https://doi.org/10.1007/s10309-017-0119-0

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