Çocukluk çağında epileptik ensefalotiler

Epileptik ensefalopatiler (EE) terimi, erken başlangıçlı (sıklıkla ilk bir yıl), ilaç tedavisine dirençli ve gelişim geriliği ile kendini gösteren epileptik sendromları tanımlamak için kullanılmaktadır. Bu sendromlar çocukluk çağı epilepsilerinin tedaviye dirençli grubunu oluşturmaktadır. Myoklonik nöbetler ile seyreden Dravet sendromu ve miyoklonik-astatik epilepsi, hipsaritmi ile birlikte olan infantil epileptik ensefalopati (West sendromu), supresyon-börst paterni ile karakterize olan Ohtahara sendromu ve erken miyoklonik epilepsi, malign migratuvar epilepsi, Lennox-Gastaut sendromu, Landau-Kleffner sendromu ve yavaş uyku sırasında ortaya çıkan elektriksel status epileptikus çocukluk çağının başlıca epileptik ensefalopati sendromlarıdır. İnfantil spazm ve Lennox-Gastautu dışındakiler pediatristler tarafından çoğu kez tanınmamakta, bu durumda tanıda gecikmelere ve daha fazla mental yıkıma yol açmaktadır. Etiyoloji multifaktoriyel olup sıklıkla altta yatan bir neden saptanamamaktadır. Yüksek doz çoklu ilaç tedavisine rağmen antiepileptiklere yanıt kötüdür. Bu derlemenin amacı çocukluk çağında görülen epileptik ensefalopatilerin klinik, elektroensefalografik özelliklerini ve prognozlarını tanımlamak ve tedavide son yıllarda olan değişiklikleri gözden geçirmektir.

Epileptic encephalopathies in childhood

The term epileptic encephalopaties is used to describe epileptic syndromes with the following features: early start (often within the first year), refractory to drug treatment, and poor developmental outcome. These syndromes constitute the group of drug resistant epilepsies in childhood. Syndromes characterised with myoclonic seizures like Dravet syndrome and myoclonic-astatic epilepsy, infantile epileptic encephalopathy with hypsarrhythmia (West syndrome), syndromes characterised with suppression-burst pattern like Ohtahara syndrome and early myoclonic encephalopathy, malign migratory epilepsy, Lennox-Gastaut syndrome, Landau-Kleffner syndrome and electrical status during slow wave sleep are the main epileptic encephalopathies in childhood. These syndromes except infantile spasm and Lennox-Gastaut sydrome are not recognised by paediatricians and this leads to delay in diagnosis and more mental deterioration. The aetiology is multifactorial, but frequently an underlying cause can not be identified. The response to antiepileptic drugs is generally poor despite high dose polypharmacy. The aim of this review is to describe the clinical, electroencephalographic and prognostic features of epileptic encephalopathies and evaluate the recent therapeutic advances.

Kaynakça

1. Dravet C, Bureau M, Guerrini R, et al. Severe myoclonic epilepsy in infants. In: Roger J, Bureau M, Dravet C, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London/Paris: John Libbey, 1992; 75-88.

2. Dravet C, Bureau M, Oguni H, Fukuyama Y, Cokar O. Severe myoclonic epilepsy in infancy (Dravet Syndrome). In: Roger J, Bureau M, Dravet C, Genton P, Tassinari CA, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 3rd ed. London/Paris: John Libbey, 2002; 81-103.

3. Doose H, Lunau H, Castiglione E, Waltz S. Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures. Neuropediatrics 1998; 29: 229-238.

4. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckoven C, De Jonghe P. De novo mutations in the sodium channel gene SCNA1A cause sever myoclonic epilepsy of infancy. Am J Hum Genet 2001; 68: 1327-1332.

5. Wallace SJ. Myoclonus and epilepsy in childhood: a review of treatment with valproat, ethosuximide, lamotrigine and zonisamide. Epilepsy Res 1998; 29: 147-154.

6. Hurst SL. Severe myoclonic epilepsy of infants. Pediatr Neurol 1987; 3: 269-272.

7. Perez J, Chiron C, Musial C, et al. Stiripentol: efficacy and tolerability in children with epilepsy. Epilepsia 1999; 40: 1618-1626.

8. Doose H. Myoclonic astatic epilepsy of early childhood. In: Roger J, Bureau M, Dravet C, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London/Paris: John Libbey, 1992; 103-114.

9. Renzo G, Aicardi J. Epileptic encephalopathies with myoclonic seizures in infants and children (severe myoclonic epilepsy and myoclonic-astatic epilepsy). J Clin Neurophysiol 2003;20: 449-461.

10. Kaminska A, Ickowicz A, Plouin P, Bru MF, Dellatolas G, Dulac O. Delination of cryptogenic Lennox-Gastaut syndrome and myoclonic-astatic epilepsy using multiple correspondence analysis. Epilepsy Res 1999; 36: 15-29.

11. Dulac O, Kaminska A. Use of lamotrigine in Lennox- Gastaut and related epilepsy syndromes. J Child Neurol 1997; 12: 23-28.

12. Hrachovy RA, Frost JD Jr. Infantile epileptic encephalopathy with hypsarrhythmia (Infantile spasms/West syndrome). J Clin Neurophysiology 2003; 20: 408-425.

13. Kellaway P, Hrachovy RA, Frost JD Jr, Zion T. Precise characterization and quantification of infantile spasms. Ann Neurol 1979; 6: 214-218.

14. Anandam R. Clinical and electroencephalographic study of infantile spasms. Indian J Pediatr 1983; 50: 515-518.

15. Hrachovy RA, Frost JD Jr. Infantile spasms: a disorder of the developing nervous system. In: Kellaway P, Noebels JL, eds. Problems and concepts in developmental neurophysiology. Baltimore: Johns Hopkins Universty Press, 1989; 131-147.

16. Frost JD Jr, Hrachovy RA. Infantile spasms. Boston: Kluwer Academic Publishers, 2003.

17. Ohtahara S, Yamatogi Y. Epileptic encephalopathies in early infancy with suppression-burst. J Clin Neurophysiol 2003; 20: 398-407.

18. Yamatogi Y, Ohtahara S. Early infantile epileptic encephalopathy with suppression burst, Ohtahara syndrome: its overview reffering to our 16 cases. Brain Dev 2002; 24: 13-23.

19. Bermejo AM, Martin VL, Arcas J, Perez-Higueras A, Morales C, Pascual-Castroviejo I. Early infantile epileptic encephalopathy: a case associated with hemimegalencephaly. Brain Dev 1992; 14: 425-428.

20. Williams AN, Gray RG, Poulton K, Ramani P, Whitehouse WPA. A case of Ohtahara syndrome with cytocrom oxydase deficiency. Dev Med Child Neurol 1998; 40: 568-570.

21. Miller SP, Dilenge ME, Meagher-Villemure K, O’Gorman AM, Shevell MI. Infantile epileptic encephalopathy (Ohtahara Syndrome) and migrational disorder. Pediatr Neurol 1998; 19: 50-54.

22. Ohno M, Shimotsuji Y, Abe J, Shimada M, Tamiya H. Zonisamide treatment of early infantile epileptic encephalopathy. Pediatr Neurol 2000; 23: 341-344.

23. Aicardi J. Early myoclonic encephalopathy (neonatal myoclonic encephalopathy). In: Roger J, Bureau M, Dravet C, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London/Paris: John Libbey, 1992: 13-23.

24. Murakami N, Ohtsuka Y, Ohtahara S. Early infantile epileptic syndromes with suppression bursts: early myoclonic encephalopathy vs Ohtahara syndrome. Jpn J Psychiatry Neurol 1993; 47: 197-200.

25. Lombroso CT. Early myoclonic encephalopathy, early infantile epileptic encephalopathy and benign and severe infantile myoclonic epilepsies: a critical review and personal contributions. J Clin Neurophysiol 1990; 7:380-408.

26. Coppola G, Ploum P, Chiron C, Robain O, Dulac O. Migrating partial seizures in infacy: A malignant disorders with developmental arrest. Epilepsia 1995;36:1017-1024.

27. Okuda K, Yasuhara A, Kamei A, Araki A, Kitamura N, Kobayashi Y. Successful control with bromide of two patients with malignant migrating partial seizures in infancy. Brain Dev 2000; 22: 56-59.

28. Nabbout R, Dulac O. Epileptic encephalopathies: a brief overview. J Clin Neurophysiol 2003; 20: 393-397.

29. Ohtahara S, Ohtsuka Y, Kobayashi K. Lennox-Gastaut syndrome: a new vista. Psychiatry Clin Neurosci 1995; 49: 179-183.

30. Beaumanoir A. The Landau-Kleffner syndrome. In: Roger J, Bureau M, Dravet C, Dreifuss F, Perret A, Wolf P, eds. Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London/Paris: John Libbey, 1992; 231-243.

31. Rapin I, Mattis S, Rowan AJ, et al. Verbal auditory agnosia in children. Dev Med Child Neurol 1977; 19: 197-207.

32. Gross-Sebeck G. Treatment of “benign” partial epilepsies of childhood, including atypical forms. Neuropediatrics 1995; 26: 45-50.

33. Deonna TW. Acquired epileptiform aphasia in children (Landau-Kleffner syndrome). J Clin Neurophysiol 1991; 3: 288-298.

34. Bureu M. Outstanding cases of ESES and LKS: Analysis of the data sheets provided to the participants. In Beaumanoir A, Bureu M, Deonna T, et al, editors. Continuous spikes and waves during slow sleep: Electrical status epilepticus during slow sleep. London: John Libby, 1995; 17-26.

35. McVicar KA, Shinnar S. Landau-Kleffner syndrome, electrical status epilepticus in slow wave sleep, and language regression in children. Mental Retardation and Developmental Disabilities 2004; 10: 144-149.

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