ФОКАЛЬНЫЕ КОРТИКАЛЬНЫЕ ДИСПЛАЗИИ: КЛИНИКО-ЭЛЕКТРО-НЕЙРОВИЗУАЛИЗАЦИОННЫЕ ХАРАКТЕРИСТИКИ

Несмотря на значительные успехи, достигнутые в эпилептологии, резистентные эпилепсии составляют примерно 30 % среди всех форм эпилепсии, особенно у пациентов с фокальными приступами. Одной из основных причин резистентных к терапии фокальных эпилепсий являются фокальные кортикальные дисплазии (ФКД). Этот термин был впервые введен D. Taylor и соавт. в1971 г. ФКД относится к нарушениям кортикального развития. Среди всех нарушений кортикального развития у детей, прошедших хирургическое лечение в связи с эпилепсией, ФКД составляют 75 %. ФКД – наиболее частая «структурная» причина резистентных форм эпилепсии у детей и наиболее частая причина диагноза «криптогенная фокальная эпилепсия» с резистентным течением приступов. Автор представляет подробный обзор литературы, посвященной ФКД как причине резистентной эпилепсии, включая классификацию и гистологические особенности ФКД, клинические проявления и прогноз, подходы к медикаментозной терапии и хирургическому лечению. 

1. Алиханов А.А., Никаноров А.Ю., Мухин К.Ю., Айвазян С.О. Фокальная корковая дисплазия у больного с эпилептическими приступами. Журнал неврологии и психиатрии им. С.С. Корсакова 1998;(7): 45–7. [Alikhanov А.А., Nikanorov А.Yu., Mukhin K.Yu., Ayvazyan S.О. Focal cortical dysplasia in patient with epileptic seizures. Zhurnal nevrologii i psikhiatrii im. S.S. Korsakova = S.S. Korsakov Journal of Neurology and Psychiatry 1998;(7):45–7. (In Russ.)].

2. Алиханов А.А., Петрухин А.С., Мухин К.Ю. и др. Магнитно-резонансная томография с высоким разрешением в оценке эпилептогенных поражений мозга. Русский журнал детской неврологии 2006;1(1):18–24. [Alikhanov А.А., Petrukhin A.S., Mukhin K.Yu. et al. Magnetic resonance imaging with high resolution in the evaluation of epileptogenic brain lesions. Russkiy zhurnal detskoy nevrologii = Russian Journal of Child Neurology 2006;1(1):18–24. (In Russ.)].

3. Карлов В.А. Эпилепсия у детей и взрослых женщин и мужчин. М.: Медицина, 2010. 720 с. [Karlov V.A. Epilepsy in children and adult men and women. Moscow: Meditsina, 2010. 720 p. (In Russ.)].

4. Мухин К.Ю., Пылаева О.А., Бородин Р.А., Мухина Л.Н. Сравнительная эффективность и переносимость монотерапии Депакином хроносфера, препаратами группы карбамазепина пролонгированного действия и окскарбазепина (трилептал) при симптоматической или криптогенной фокальной эпилепсии (отчет Института детской неврологии и эпилепсии им. Святителя Луки). Русский журнал детской неврологии 2015;10(1):4–15. [Mukhin K.Yu., Pylaeva O.A., Borodin R.A., Mukhina L.N. Comparative efficаcy and tolerability of monotherapy with Depakine chronosphere, drugs of carbamazepine group with extended release and oxcarbazepine in symptomatic and cryptogenic focal epilepsy (Svt. Luka’s Institute of Child Neurology and Epilepsy). Russkiy zhurnal detskoy nevrologii = Russian Journal of Child Neurology 2015;10(1):4–15. (In Russ.)]. DOI: 10.17650/2073-8803-2015-1-4-15.

5. Мухин К.Ю., Миронов М.Б., Петрухин А.С. Эпилептические синдромы. Диагностика и терапия. Руководство для врачей. М.: Системные решения, 2014. 376 с. [Mukhin K.Yu., Mironov M.B., Petrukhin A.S. Epileptic syndromes. Diagnosis and therapy. Guidelines for doctors. Moscow: Sistemnye resheniya, 2014. 376 p. (In Russ.)].

6. Alexandre Jr.V., Capovilla G., Fattore C. et al. Characteristics of large population of patients with refractory epilepsy attending tertiary referral centers in Italy. Epilepsia 2010;51(5):921–5. DOI: 10.1111/j.1528-1167.2009.02512.x.

7. Barkovich A.J. Malformations of cortical development. In: Magnetic resonance in epilepsy. 2nd edition. Ed. by R.I. Kuzniecky, G.D. Jackson. Burlington: Elsevier Academic Press, 2005. Pp. 221–48.

8. Barkovich A.J., Guerrini R., Kuzniecky R.I. et al. A developmental and genetic classification for malformations of cortical development: update 2012. Brain 2012;135(Pt 5):1348–69. DOI: 10.1093/brain/aws019.

9. Becker A.J., Urbach H., Scheffler B. et al. Focal cortical dysplasia of Taylor’s balloon cell type: mutational analysis of the TSC1 gene indicates a pathogenic relationship to tuberous sclerosis. Ann Neurol 2002;52(1):29–37. DOI: 10.1002/ana.10251.

10. Berg А.T. Defining intractable epilepsy. Adv Neurol 2006;97:5–10.

11. Bertsche A., Neininger M.P., Dahse A.J. et al. Initial anticonvulsant monotherapy in routine care of children and adolescents: levetiracetam fails more frequently than valproate and oxcarbazepine due to a lack of effectiveness. Eur J Pediatr 2014;173(1): 87–92. DOI: 10.1007/s00431-013-2125-1.

12. Blümcke I. Developmental neurobiology, neuroanatomy and neuropathology of epilepsy. In: Oxford textbook of epilepsy and epileptic seizures. Ed. by S. Shorvon, R. Guerrini, M. Cook, S. Lhatoo. Oxford University Press, 2013. Pp. 39–50.

13. Blümcke I., Sarnat H.B., Coras R. Surgical neuropathology of focal epilepsies: textbook and atlas. Paris: John Libbey Eurotext, 2015. 158 p.

14. Blümcke I., Thom M., Aronica E. et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia 2011;52(1):158–74. DOI: 10.1111/j.1528-1167.2010.02777.x.

15. Blümcke I., Vinters H.V., Armstrong D. et al. Malformations of cortical development and epilepsy. Epileptic Disord 2009;11:181–93.

16. Bureau M., Genton P., Guerrini R., Roger J. Sleep EEG in cortical dysplasias. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 247–54.

17. Capovilla G., Verotti A. Lennox-Gastaut syndrome: nosographic limits and long term outcome. In: Outcome of childhood epilepsies. Ed. by W.F. Arts, A. Arzimanoglou, O.F. Brouwer et al. Paris: J.L. Eurotext, 2013. Pp. 121–32.

18. Cepeda C., Andre V.M., Hauptman J.S. et al. Enhanded GABAergic network and receptor function in pediatric cortical dysplasia type IIb compared with tuberous sclerosis complex. Neurobiol Dis 2012;45(1):310–21. DOI: 10.1016/j.nbd.2011.08.015.

19. Cepeda C., Andre V.M., Levine M.S. et al. Epileptogenesis in pediatric cortical dysplasia: the dysmature cerebral development hypothesis. Epilepsy Behav 2006;9(2):219–35. DOI: 10.1016/j.yebeh.2006.05.012.

20. Crome L. Infantile cerebral gliosis with giant nerve cells. J Neurol Neurosurg Psychiatry 1957;20(2):117–24.

21. Duchowny M. Clinical, functional and neurophysiologic assessment of dysplastic cortical networks: implications for cortical functioning and surgical management. Epilepsia 2009;50 Suppl 9:19–27. DOI: 10.1111/j.1528-1167.2009.02291.x.

22. Dulac O., Pinard J.M., Plouin P. Infantile spasms associated with cortical dysplasia and tuberous sclerosis. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 217–25.

23. Eltze C.M., Chong W.K., Bhate S. et al. Taylor-type focal cortical dysplasia in infants: some MRI lesions almost disappear with maturation of myelination. Epilepsia 2005;46(12):1988–92. DOI: 10.1111/j.1528-1167.2005.00339.x.

24. Ferrer I., Pineda M., Tallada M. et al. Abnormal local-circuit neurons in epilepsia partialis continua associated with focal cortical dysplasia. Acta Neuropathol 1992;83(6): 647–52.

25. Giovanardi Rossi P., Parmeggiani A., Santucci M. et al. Neuropsychological and psychiatric findings in cerebral cortex dysplasias. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 345–50.

26. Glauser T., Ben-Menachem E., Bourgeois B. et al. ILAE treatment guidelines: evidencebased analysis of antiepileptic drug efficacy and effectiveness as initial monotherapy for epileptic seizures and syndromes. Epilepsia 2006;47(7):1094–120. DOI: 10.1111/j.1528-1167.2006.00585.x.

27. Gobbi G., Pini A., Parmeggiani A. et al. Periodic spasms in cortical dysplasia. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 311–21.

28. Guerrini R., Dobyns W.B. Malformations of cortical development: clinical features and genetic causes. Lancet Neurol 2014;13(7):710– 26. DOI: 10.1016/S1474-4422(14)70040-7.

29. Guerrini R., Dravet Ch., Bureau M. et al. Diffuse and localized dysplasias of cerebral cortex: clinical presentation, outcome and proposal for a morphologic MRI classification based on a study of 90 patients. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 255–69.

30. Guerrini R., Parrini E. Epilepsy and malformations of the cerebral cortex. In: Epileptic syndromes in infancy, childhood and adolescence. 5th edition with video. Ed. by M. Bureau, P. Genton, C. Dravet et al. Paris: John Libbey Eurotext, 2012. Pp. 607–29.

31. Harvey A.S., Mandelstam S.A., Maixner W.J. et al. The surgically remediable syndrome of the epilepsy associated with bottom-ofsulcus dysplasia. Neurology 2015;84(20):2021– 7. DOI: 10.1212/WNL.0000000000001591.

32. Holthausen H., Fogarasi A., Arzimanoglou A., Kahane Ph. Structural (symptomatic) focal epilepsies of childhood. In: Epileptic syndromes in infancy, childhood and adolescence. 5th edition with video. Ed. by M. Bureau, P. Genton, C. Dravet et al. Paris: John Libbey Eurotext, 2012. Pp. 455–505.

33. Holthausen H., Piper T., Kudernatsch M., Blümcke I. Outcome when malformations of cortical development (MCD) are the cause. In: Outcome of childhood epilepsies. Ed. by W.F. Arts, A. Arzimanoglou, O.F. Brouwer et al. Paris: John Libbey Eurotext, 2013. Pp. 203–15.

34. Holthausen H., Piper T., Winkler P. et al. Electro-clinical-pathological correlations in focal cortical dysplasia (FCD) at young ages. Childs Nerv Syst 2014;30(12):2015–26. DOI: 10.1007/s00381-014-2549-6.

35. Holthausen H., Strobl K. Modes of reorganization of sensorimotor system in children with infantile hemiplegia and after hemispherectomy. Adv Neurol 1994;81:201–20.

36. Janota I. Cortical dysplasia in surgical specimens. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 53–5.

37. Krsek P., Jahodova A., Maton B. et al. Low-grade focal cortical dysplasia is associated with prenatal and perinatal brain injury. Epilepsia 2010;51(12):2440–8. DOI: 10.1111/j.1528-1167.2010.02730.x.

38. Krsek P., Pieper T., Karlmeier A. et al. Different presurgical characteristics and seizure outcomes in children with focal cortical dysplasia type I or II. Epilepsia 2009;50(1):125–37. DOI: 10.1111/j.1528-1167.2008.01682.x.

39. Kudr M., Krsek P., Marusic P. et al. SISCOM and FDG-PET in patients with nonlesional extratemporal epilepsy: correlations with intracranial EEG, histology and seizure outcome. Epileptic Disord 2013;15(1): 3–13.

40. Kuzniecky R. Focal cortical dysplasia and related variants. In: The causes of epilepsy. Common and uncommon causes in adults and children. Ed. by S. Shorvon, F. Andermann, R. Guerrini. N.Y.: Cambridge Medicine, 2011. Pp. 293–7.

41. Kuzniecky R., Berkovic S., Andermann F. et al. Focal cortical myoclonus and rolandic cortical dysplasia: clarification by magnetic resonance imaging. Ann Neurol 1988;23(4):317–25.

42. Kwan P., Brodie M.J. Epilepsy after the first drug fails: substitution or add-on? Seizure 2000;9(7):464–8. DOI: 10.1053/ seiz.2000.0442.

43. Kwan P., Brodie M.J. Early identification of refractory epilepsy. N Engl J Med 2000;342(5):314–9. DOI: 10.1056/ NEJM200002033420503.

44. Kwan P., Brodie M.J. Refractory epilepsy: mechanisms and solutions. Expert Rev Neurother 2006;6(3):397–406. DOI: 10.1586/14737175.6.3.397.

45. Lerner J.T., Salamon N., Hauptman J.S. et al. Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience. Epilepsia 2009;50(6):1310–35. DOI: 10.1111/j.1528-1167.2008.01998.x.

46. Leventer R.J., Jansen F.E., Mandelstam S.A. et al. Is focal cortical dysplasia sporadic? Family evidence for genetic susceptibility. Epilepsia 2014;55(3):e22–6. DOI: 10.1111/ epi.12533.

47. Leventer R.J., Phelan E.M., Coleman L.T. et al. Clinical and imaging features of cortical malformations in childhood. Neurology 1999;53(4):715–22.

48. Meencke H.J., Janz D. Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia 1984;25(1): 8–21.

49. Najm I.M., Tilelli C.Q., Oghlakian R. Pathophysiological mechanisms of focal cortical dysplasia: a critical review of human tissue studies and animal models. Epilepsia 2007; 48 Suppl 2:21–32.

50. Nass R., Gross A., Devinsky O. Autism and autistic epileptiform regression with occipital spikes. Dev Med Child Neurol 1998;40(7):453–8.

51. Nobili L., Cardinale F., Magliola U. et al. Taylor’s focal cortical dysplasia increases the risk of sleep-related epilepsy. Epilepsia 2009;50(12):2599–604. DOI: 10.1111/j.1528-1167.2009.02169.x.

52. Palmini A., Gambardella A., Andermann F. et al. The human dysplastic cortex is intrinsically epileptogenic. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 43–52.

53. Palmini A., Najm I., Avanzini G. et al. Terminology and classification of the cortical dysplasias. Neurology 2004;62 (6 Suppl 3):2–8.

54. Sarnat H.B. Immunocytochemical markers of neuronal maturation in human diagnostic neuropathology. Cell Tissue Res 2015;359(1):279–94. DOI: 10.1007/s00441-014-1988-4.

55. Sarnat H.B., Blümcke I. Malformations of cortical development. In: Surgical neuropathology of focal epilepsies: textbook and atlas. Ed. by I. Blümcke, H.B. Sarnat, R. Coras. Paris: John Libbey Eurotext, 2015. Pp. 18–53.

56. Stiles J., Jernigan T.L. The basics of brain development. Neuropsychol Rev 2010;20(4):327–48. DOI: 10.1007/s11065010-9148-4.

57. Tassi L., Garbelli R., Colombo N. et al. Type I focal cortical dysplasia: surgical outcome is related to histopathology. Epileptic Disord 2010;12(3):181–91. DOI: 10.1684/ epd.2010.0327.

58. Taylor D.C., Falconer M.A., Bruton C.J., Corsellis J.A. Focal dysplasia of the cerebral cortex in epilepsy. J Neurol Neurosurg Psychiatry 1971;34(4):369–87.

59. Walker M.C., Shorvon S.D. Treatment of status epilepticus and serial seizures. In: The treatment of epilepsy. Ed. by S. Shorvon, F. Dreifuss, D. Fish, D. Thomas. Oxford, 1996. Pp. 269–85.

60. Wang Z.I., Alexopoulos A.V., Jones S.E. et al. The pathology of magnetic-resonanceimaging-negative epilepsy. Mod Pathol 2013;26(8):1051–8. DOI: 10.1038/modpathol.2013.52.

61. Watanabe K., Negoro T., Aso K. et al. Childhood-onset epilepsy due to focal cortical dysplasia. In: Dysplasias of cerebral cortex and epilepsy. Ed. by R. Guerrini, F. Andermann, R. Canapicchi et al. Philadelphia: Lippincott – Raven Publishers, 1996. Pp. 227–34.