Preview

Neurology, Neuropsychiatry, Psychosomatics

Advanced search

Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case

https://doi.org/10.14412/2074-2711-2017-4-65-69

Full Text:

Abstract

The paper describes a patient with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS). The features of  the course and therapy of epilepsy in MELAS are discussed. The disease  is known for its late diagnosis when years elapse from the onset of the  clinical manifestations to diagnosis. The paper presents clinical criteria  for the diagnosis of MELAS and the specific features of brain neuroimaging changes that allow identification of the disease at an early stage.

About the Authors

M. A. Yamin
Regional Consulting and Diagnostic Center
Russian Federation
127, Pushkinskaya St., Rostov-on-Don 344010


I. V. Chernikova
Rostov State Medical University, Ministry of Health of Russia
Russian Federation

Department of Neurology and Neurosurgery with Courses of Manual Therapy and Reflexotherapy

29, Nakhichevansky Lane, Rostov-on-Don 344022



L. V. Araslanova
Regional Consulting and Diagnostic Center
Russian Federation
127, Pushkinskaya St., Rostov-on-Don 344010


P. A. Shevkun
Regional Consulting and Diagnostic Center
Russian Federation
127, Pushkinskaya St., Rostov-on-Don 344010


References

1. Haas RH, Parikh S, Falk MJ, et al. Mitochondrial disease: a practical approach for primary care physicians. Pediatrics. 2007 Dec;120(6):1326-33.

2. Darin N, Oldfors A, Moslemi AR, et al. The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities. Ann Neurol. 2001 Mar;49(3):377-83.

3. Lam CW, Lau CH, Williams JC, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy. Eur J Pediatr. 1997 Jul;156(7):562-4.

4. Chaudhry N, Patidar Y, Puri V. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes unveiled by valproate. J Pediatr Neurosci. 2013 May;8(2): 135-7. doi: 10.4103/1817-1745.117847.

5. Pavlakis SG, Phillips PC, Di Mauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a distinctive clinical syndrome. Ann Neurol. 1984 Oct; 16(4):481-8.

6. Hirano M, Ricci E, Koenigsberger MR, et al. Melas: an original case and clinical criteria for diagnosis. Neuromuscul Disord. 1992;2(2): 125-35.

7. Hirano M, Pavlakis SG. Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS). J Child Neurol. 1994 Jan;9(1):4-13.

8. Мазунин ИО, Володько НВ, Стариковская ЕБ, Сукерник РИ. Митохондриальный геном и митохондриальные заболевания человека. Молекулярная биология. 2010;44(5): 755–72. [Mazunin IO, Volod'ko NV, Starikovskaya EB, Sukernik RI. Mitochondrial genome and mitochondrial human diseases. Molekulyarnaya biologiya. 2010;44(5):755–72. (In Russ.)].

9. Ciafaloni E, Ricci E, Shanske S, et al. MELAS: clinical features, biochemistry, and molecular genetics. Ann Neurol. 1992 Apr; 31(4):391-8.

10. Matthews PM, Tampieri D, Berkovic SF, et al. Magnetic resonance imaging shows specific abnormalities in the MELAS syndrome. Neurology. 1991 Jul;41(7):1043-6.

11. Koenig MK, Emrick L, Karaa A, et al. Recommendations for the management of strokelike episodes in patients with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes. JAMA Neurol. 2016 May 1; 73(5):591-4. doi: 10.1001/jamaneurol.2015.5072.

12. Koga Y, Akita Y, Nishioka J, et al. L-arginine improves the symptoms of stroke-like episodes in MELAS. Neurology. 2005 Feb 22; 64(4):710-2.

13. Koga Y, PovalkoN, Nishioka J, et al. MELAS and L-arginine therapy: pathophysiology of stroke-like episodes. Ann N Y Acad Sci. 2010 Jul;1201:104-10. doi: 10.1111/j.1749-6632.2010.05624.x.

14. El-Hattab AW, Adesina AM, Jones J, Scaglia F. MELAS syndrome: clinical manifestations, pathogenesis, and treatment options. Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12. doi: 10.1016/j.ymgme.2015.06.004. Epub 2015 Jun 15.

15. El-Hattab AW, Almannai M, Scaglia F. Arginine and citrulline for the treatment of MELAS syndrome. J Inborn Errors Metab Screen. 2017 Jan;5. doi: 10.1177/2326409817697399. Epub 2017 Mar 24.

16. Rodriguez MC, MacDonald JR, Mahoney DJ, et al. Benecial effects of creatine, CoQ10, and lipoic acid in mitochondrial disorders. Muscle Nerve. 2007 Feb;35(2): 235-42.

17. Napolitano A, Salvetti S, Vista M, et al. Long-term treatment with idebenone and riboflavin in a patient with MELAS. Neurol Sci. 2000;21(5 Suppl):S981-2.

18. Pfeffer G, Majamaa K, Turnbull DM, et al. Treatment for mitochondrial disorders. Cochrane Database Syst Rev. 2012 Apr 18;(4): CD004426. doi: 10.1002/14651858.CD004426.pub3.

19. Kaufmann P, Engelstad K, Wei Y, et al. Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial. Neurology. 2006 Feb 14;66(3):324-30.

20. Luis PB, Ruiter JP, Aires CC, et al. Valproic acid metabolites inhibit dihydrolipoyldehydrogenase activity leading to impaired 2-oxoglutarate- driven oxidative phosphorylation. Biochim Biophys Acta. 2007 Sep;1767(9): 1126-33. Epub 2007 Jul 10.

21. Смирнова ИН, Кистенёв БА, Кротенкова МВ, Суслина ЗА. Инсультоподобное течение митохондриальной энцефаломиопатии (синдром MELAS). Нервные болезни. 2006;(1):43-8. [Smirnova IN, Kistenev BA, Krotenkova MV, Suslina ZA. Stroke similar mitochondrial encephalomyopathy (MELAS syndrome). Nervnye bolezni. 2006;(1):43-8. (In Russ.)].

22. Bindoff LA, Engelsen BA. Mitochondrial diseases and epilepsy. Epilepsia. 2012 Sep;53 Suppl 4:92-7. doi: 10.1111/j.1528-1167.2012.03618.x.


For citation:


Yamin M.A., Chernikova I.V., Araslanova L.V., Shevkun P.A. Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS): diagnostic criteria, features of epileptic seizures, and treatment approaches by the example of a clinical case. Neurology, Neuropsychiatry, Psychosomatics. 2017;9(4):65-69. (In Russ.) https://doi.org/10.14412/2074-2711-2017-4-65-69

Views: 1140


Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.


ISSN 2074-2711 (Print)
ISSN 2310-1342 (Online)