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EPILEPSY IN CHILDREN WITH MYTOCHONDRIAL DISEASES: DIAGNOSTICS AND TREATMENT FEATURES

Abstract

Mitochondrial diseases (MD) represent a large clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondrial respiratory chain. The article discusses clinical features of the MD, accompanying by epilepsy. Two case reports are presented of MELAS syndrome and Alpers-Huttenlocher syndrome. The genetic background of MD is discussed as well as methods for establishing the diagnosis of MD and peculiarities of antiepileptic therapy

About the Authors

N. N. Zavadenko
GBOU VPO Russian National Investigational Medical University named after N.I. Pirogov, Ministry of Health and Social Development of the Russian Federation (Moscow)
Russian Federation


A. A. Kholin
GBOU VPO Russian National Investigational Medical University named after N.I. Pirogov, Ministry of Health and Social Development of the Russian Federation (Moscow)
Russian Federation


References

1. Мазунин И.О., Володько Н.В., Стариковская Е.Б., Сукерник Р.И. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010; 44 (5): 755-772.

2. Михайлова С.В., Захарова Е.Ю., Петрухин А.С. Нейрометаболические заболевания у детей и подростков: диагностика и подходы к лечению. М.: Литтерра, 2011, 341 с.

3. Мутовин Г.Р. Клиническая генетика. М.: ГЭОТАР-Медиа, 2010, 832 с.

4. Сухоруков В.С. Очерки митохондриальной патологии. М.: Медпрактика-М, 2011, 287 с.

5. Bindoff LA. Mitochondrial function and pathology in status epilepticus. Epilepsia 2011; 52 (suppl. 8): 6-7.

6. Canafoglia L, Franceschetti S, Antozzi C, Carrara F, Farina L, Granata T, Lamantea E, Savoiardo M, Uziel G, Villani F, Zeviani M, Avanzini G. Epileptic phenotypes associated with mitochondrial disorders. Neurology 2001; 56: 1340-1346.

7. Darin N, Oldfors A, Moslemi AR, Holme E, Tulinius M. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann. Neurol. 2001; 49: 377-383.

8. El Sabbagh S, Lebre A-S, Bahi-Buisson N, Delonlay P, Soufflet C, Boddaert N, Rio M, Rotig A, Dulac O, Munnich A, Desguerre I. Epileptic phenotypes in children with respiratory chain disorders. Epilepsia 2010; 51: 1225-1235.

9. Finsterer J. Mitochondriopathies. Eur. J. Neurol. 2004; 11: 163-186.

10. Lagrue E, Chalon S, Bodard S, Saliba E, Gressens P, Castelnau P. Lamotrigine is neuroprotective in the energy deficiency model of MPTP intoxicated mice. Pediatr. Res. 2007; 62: 14-19.

11. Lee Y., Kang H., Lee J., Km S., Kim E., Lee S., Slama A., Kim H. Mitochondrial respiratory chain defects: underlyingetiology in various epileptic conditions. Epilepsia. 2008; 49: 685-690.

12. Lheureux P.E., Hantson P. Carnitine in the treatment of valproic acid-induced toxicity. ClinToxicol (Phila). 2009; 47: 101-11.

13. Mancuso M., Galli P., Pizzanelli C., Filosto M., Siciliano G., Murri L. Antimyoclonic effect of levetiracetam in MERRF syndrome. J. Neurol Sci. 2006; 243: 97-99.

14. Schaefer A.M., McFarland R., Hart Y., Turnbull D.M. Newcastle Mitochondrial Disease Guidelines. Newcastle Mitochondrial Centre, NHS Specialised Services for Rare Mitochondrial Disorders of Adults and Children. 2010; 17 p.

15. Siekevitz P. Powerhouse of the cell. Scientific American 1957; 1: 131-140.

16. Zammit V.A., Ramsay R.R., Bonomini M., Arduini A. Carnitine, mitochondrial function and therapy. Adv. Drug. Deliv. Rev. 2009; 61: 1353-1362.


Review

For citations:


Zavadenko N.N., Kholin A.A. EPILEPSY IN CHILDREN WITH MYTOCHONDRIAL DISEASES: DIAGNOSTICS AND TREATMENT FEATURES. Epilepsy and paroxysmal conditions. 2012;4(2):21-27. (In Russ.)

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ISSN 2077-8333 (Print)
ISSN 2311-4088 (Online)