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Myoklonisch-astatische Epilepsie

Doose-Syndrom 2014

Myoclonic-astatic epilepsy

Doose syndrome 2014

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Zusammenfassung

Die myoklonisch-astatische Epilepsie (MAE, Doose-Syndrom, Epilepsie mit myoklonisch-atonischen Anfällen) ist ein seltenes, elektroklinisches Syndrom des frühen Kindesalters, das bei zuvor gesunden, normal entwickelten Kindern auftritt. Jungen sind häufiger betroffen (70 %). Pathognomonisch sind die myoklonisch-atonischen Anfälle (oft Sturzanfälle). Auch Umdämmerungsstatus, myoklonische, generalisierte tonisch-klonische Anfälle und kurze Absencen sind oft vorhanden. Im EEG finden sich Merkmale wie Fotosensibilität, generalisierte „Spike-and-wave“-Paroxysmen und 4- bis 7/s-θ-Rhythmen. Nicht selten verläuft die MAE therapieschwierig, und es entwickelt sich eine epileptische Enzephalopathie. Dieser Beitrag gibt einen detaillierten Überblick über das klinische Bild, fasst aktuelle Therapieempfehlungen sowie Prognosefaktoren zusammen und beleuchtet diese kritisch.

Abstract

Myoclonic-astatic epilepsy (MAE, Doose syndrome, epilepsy with myoclonic-atonic seizures) is a rare generalized electroclinical syndrome of early childhood usually affecting previously normally developed children with a male preponderance (approximately 70 %). Drop attacks, myoclonic, myoclonic-atonic, generalized tonic-clonic seizures or short absences as well as a non-convulsive status epilepticus (obtundation state) constitute the common clinical presentation of MAE. Patterns of generalized spike and wave activity, 4–7/s rhythms as well as photoparoxysmal reaction can be observed in the electroencephalograph (EEG). In this review the clinical picture is described in detail and therapeutic strategies and prognostic criteria are delineated and discussed.

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Literatur

  1. Berg AT, Zelko FA, Levy SR et al (2012) Age at onset of epilepsy, pharmacoresistance, and cognitive outcomes: a prospective cohort study. Neurology 79:1384–1391

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  2. Berkovic SF, Howell RA, Hay DA et al (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43:435–445

    Article  CAS  PubMed  Google Scholar 

  3. Caraballo RH, Cersosimo RO, Sakr D et al (2006) Ketogenic diet in patients with myoclonic-astatic epilepsy. Epileptic Disord 8:151–155

    PubMed  Google Scholar 

  4. Caraballo RH, Chamorro N, Darra F et al (2013) Epilepsy with myoclonic atonic seizures: an electroclinical study of 69 patients. Pediatr Neurol 48:355–362

    Article  PubMed  Google Scholar 

  5. Doege C, May TW, Siniatchkin M et al (2013) Myoclonic astatic epilepsy (Doose syndrome) – a lamotrigine responsive epilepsy? Eur J Paediatr Neurol 17:29–35

    Article  PubMed  Google Scholar 

  6. Doose H (1992) Myoclonic-astatic epilepsy. Epilepsy Res Suppl 6:163–168

    CAS  PubMed  Google Scholar 

  7. Doose H, Baier WK (1987) Epilepsy with primarily generalized myoclonic-astatic seizures: a genetically determined disease. Eur J Pediatr 146:550–554

    Article  CAS  PubMed  Google Scholar 

  8. Doose H, Baier WK (1988) Theta rhythms in the EEG: a genetic trait in childhood epilepsy. Brain Dev 10:347–354

    Article  CAS  PubMed  Google Scholar 

  9. Dulac O, Kaminska A (1997) Use of lamotrigine in Lennox-Gastaut and related epilepsy syndromes. J Child Neurol 12(Suppl 1):S23–S28

    Article  PubMed  Google Scholar 

  10. Ebach K, Joos H, Doose H et al (2005) SCN1A mutation analysis in myoclonic astatic epilepsy and severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 36:210–213

    Article  CAS  PubMed  Google Scholar 

  11. Escayg A, Heils A, MacDonald BT et al (2001) A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus–and prevalence of variants in patients with epilepsy. Am J Hum Genet 68:866–873

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  12. Fejerman N, Caraballo R, Cersosimo R (2005) Ketogenic diet in patients with Dravet syndrome and myoclonic epilepsies in infancy and early childhood. Adv Neurol 95:299–305

    PubMed  Google Scholar 

  13. Inoue T, Ihara Y, Tomonoh Y et al (2013) Early onset and focal spike discharges as indicators of poor prognosis for myoclonic-astatic epilepsy. Brain Dev

  14. Jayawant S, Libretto SE (2003) Topiramate in the treatment of myoclonic-astatic epilepsy in children: a retrospective hospital audit. J Postgrad Med 49:202–205 (discussion 205–206)

    CAS  PubMed  Google Scholar 

  15. Kaminska A, Ickowicz A, Plouin P et al (1999) Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis. Epilepsy Res 36:15–29

    Article  CAS  PubMed  Google Scholar 

  16. Kilaru SV, Bergqvist AGC (2005) Myoclonic astatic epilepsy: the children’s hospital of Philadelphia experience. Epilepsia 46:153–153

    Google Scholar 

  17. Kroll-Seger J, Mothersill IW, Novak S et al (2006) Levetiracetam-induced myoclonic status epilepticus in myoclonic-astatic epilepsy: a case report. Epileptic Disord 8:213–218

    PubMed  Google Scholar 

  18. Lagenstein I (1981) Epilepsies with myoclonic-astatic seizures. A clinical and electroencephalographical study in 95 patients. II. Electroencephalographic results (author’s transl). Monatsschr Kinderheilkd 129:145–153

    CAS  PubMed  Google Scholar 

  19. Mefford HC, Muhle H, Ostertag P et al (2010) Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies. PLoS Genet 6:e1000962

    Article  PubMed Central  PubMed  Google Scholar 

  20. Moeller F, Groening K, Moehring J et al (2014) EEG-fMRI in myoclonic astatic epilepsy (Doose syndrome). Neurology (im Druck)

  21. Mullen SA, Marini C, Suls A et al (2011) Glucose transporter 1 deficiency as a treatable cause of myoclonic astatic epilepsy. Arch Neurol 68:1152–1155

    Article  PubMed  Google Scholar 

  22. Nangia S, Caraballo RH, Kang HC et al (2012) Is the ketogenic diet effective in specific epilepsy syndromes? Epilepsy Res 100:252–257

    Article  CAS  PubMed  Google Scholar 

  23. Oguni H, Tanaka T, Hayashi K et al (1999) Retrospective study on long-term prognosis of cryptogenic myoclonic-astatic epilepsy (CMAE). Epilepsia 40:167–167

    Article  Google Scholar 

  24. Oguni H, Tanaka T, Hayashi K et al (2002) Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood. Neuropediatrics 33:122–132

    Article  CAS  PubMed  Google Scholar 

  25. Panayiotopoulos CP, Ferrie CD, Knott C et al (1993) Interaction of lamotrigine with sodium valproate. Lancet 341:445

    Article  CAS  PubMed  Google Scholar 

  26. Silva RC, Montenegro MA, Guerreiro CA et al (2006) Clobazam as add-on therapy in children with epileptic encephalopathy. Can J Neurol Sci 33:209–213

    PubMed  Google Scholar 

  27. Stephani U (2009) Myoclonic astatic epilepsy. In: Nikanorova M, Genton P, Sabers A (Hrsg) Long-term evolution of epileptic encephalopathies. John Libbey Eurotext, Esher, UK, S 39–50

  28. Tang S, Pal DK (2012) Dissecting the genetic basis of myoclonic-astatic epilepsy. Epilepsia 53:1303–1313

    Article  PubMed  Google Scholar 

  29. Thomas P, Valton L, Genton P (2006) Absence and myoclonic status epilepticus precipitated by antiepileptic drugs in idiopathic generalized epilepsy. Brain 129:1281–1292

    Article  PubMed  Google Scholar 

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Einhaltung ethischer Richtlinien

Interessenkonflikt. C. Doege, R. Kleiss, U. Stephani und S. von Spiczak geben an, dass kein Interessenkonflikt besteht. Der Beitrag enthält keine Studien an Menschen oder Tieren.

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Authors and Affiliations

  1. Klinik für Neuropädiatrie, Christian-Albrechts-Universität, Kiel, Deutschland

    R. Kleiss, U. Stephani & S. von Spiczak

  2. Norddeutsches Epilepsiezentrum für Kinder und Jugendliche, Henry Dunant Str. 6–10, 24233, Raisdorf, Deutschland

    C. Doege, U. Stephani & S. von Spiczak

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  1. C. Doege
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  2. R. Kleiss
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  3. U. Stephani
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  4. S. von Spiczak
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Correspondence to C. Doege.

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Doege, C., Kleiss, R., Stephani, U. et al. Myoklonisch-astatische Epilepsie. Z. Epileptol. 27, 105–111 (2014). https://doi.org/10.1007/s10309-013-0357-8

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  • DOI: https://doi.org/10.1007/s10309-013-0357-8

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