Stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis

Abstract

We described two patients (female, 47 years and male, 42 years) with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS). Diagnosis was confirmed by genetic study (A3243G mitochondrial DNA mutation was found), muscle biopsy and elevated lactate level in the blood. Clinical picture of stroke-like episodes was presented by symptoms of mainly involvement of the posterior brain area (fluent and amnestic aphasia, hemianopia, paresis, ataxia), as well as by headache and epileptic seizures. In the first patient stroke-like episodes recurred but their symptoms almost completely regressed with time. The second patient had severe residual neurological deficit. Other clinical manifestations included hearing loss, memory deterioration, cardiomyopathy, fatigue and type 1 diabetes mellitus. MRI in acute period of stroke-like episodes found cortical lesions mainly in the posterior parts of the brain. They completely disappeared in the first case, but persisted in the second patient. The differential diagnosis of stroke-like episodes and ischemic stroke and approaches to treatment are discussed.

 

About the authors

L. A. Kalashnikova

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Author for correspondence.
Email: platonova@neurology.ru
Russian Federation

L. A. Dobrynina

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

A. V. Sakharova

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

R. P. Chaykovskaya

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

M. F. Mir-Kasimov

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

R. N. Konovalov

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

A. A. Shabalina

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

M. M. Kostyreva

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

V. V. Gnezditsky

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

S. V. Protsky

Research Center of Neurology, Russian Academy of Medical Sciences (Moscow)

Email: platonova@neurology.ru
Russian Federation

References

  1. Темин П.А., Никанорова М.Ю., Николаева Е.А. Синдром MELAS (митохондриальная энцефалопатия, лактат-ацидоз, инсультоподобные эпизоды): основные проявления, критерии диагностики, возможности лечения // Неврол. журн. 1998; №2: 43–48.
  2. Иллариошкин С.Н. Первичная и вторичная митохондриальная недостаточность в неврологии и подходы к ее коррекции // Consilium medicum. 2007; № 8: 105–106.
  3. Лукьянова Л.Д. Новые возможности коррекции митохондри- альной дисфункции в лечении неврологических заболеваний // Consilium medicum. 2007; № 8: 102–103.
  4. Смирнова И.Н., Кистенев Б.А. и др. Инсультоподобное течение митохондриальной энцефаломиопатии (синдром MELAS) // Атмосфера. Нервные болезни. 2006; №1: 33–36.
  5. Cummins J.M., Wakayama T., Yanagimachi R. Fate of microinjected sperm components in the mouse oocyte and embryo. Zygote 1997; 5: 301–308.
  6. DiDonato S. Multisystem manifestations of mitochondrial disorders. J. Neurol. 2009; 256: 693–710.
  7. Filosto M., Tomelleri G., Tonin P. et al. Neuropathology of mitochondrial diseases. Biosci. Rep. 2007; 27: 23–30.
  8. Finsterer J. Central nervous system manifestations of mitochondrial disorders. Acta Neurol. Scand. 2006; 114: 217–238.
  9. Finsterer J. Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu (UUR) mutation. Acta Neurol. Scand. 2007; 116: 1–14.
  10. Goto Y-I., Nonaka I., Horai S. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies. Nature 1990; 348: 651–653.
  11. Haas R.H., Parikh S., Falk M.J. et al. The depth evaluation of suspected mitochondrial disease. Mol. Genet. Metab. 2008; 94: 16–37.
  12. Hirano M., Ricci E., Koenigsberger M.R. et al. MELAS: an original case and clinical criteria for diagnosis. Neuromuscul. Disord. 1992; 2: 125–135.
  13. Hirano M., Pavlakis S.G. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): J. Child Neurol. 1994; 9: 4–13.
  14. Iizuka T., Sakai F. Pathogenesis of stroke-like episodes in MELAS: Analysis of neurovascular cellular mechanisms. Curr. Neurovasc. Res. 2005; 2: 29–45.
  15. Iizuka T., Sakai F., Suzuki N. et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology 2002; 59: 816–824.
  16. Kobayashi Y., Momoi M.Y., Tominaga K. et al. A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes). Biochem. Biophys. Res. Commun. 1990; 173: 816–822.
  17. Macmillan C., Lach B., Shoubridge E.A. Variable distribution of mutant mitochondrial DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993; 43: 1586–1590.
  18. Michelson D.J., Ashwal S. The pathophysiology of stroke in mitochondrial disorders. Mitochondrion 2004; 4: 665–674.
  19. Naviaux R.K. The spectrum of mitochondrial disease. In: Mitochondrial and metabolic disorders- a primary care physician’s guide. NJ: Psy-Ed Corp., 1997: 3–10.
  20. Nunes B., Barros J., Correia M., Lopes J.C. Epilepsy and cerebrovascular diseases in an outpatient clinic. Cerebrovasc. Dis. 1994; 4: 96–100.
  21. Pachalska M., MacQueen B.D. Episodic aphasia with residual effects in a patient with progressive dementia resulting from a mitochondrial cytopathy (MELAS). Aphasiology 2001; 15: 599–615.
  22. Pavlakis G.S., Phillips P.C., DiMauro S. et al. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes: a distinctive clinical syndrome. Ann. Neurol. 1984; 16: 481–488.
  23. Sarnat H.B., Marin-Garcia J. Pathology of mitochondrial encephalomyopathies. Can. J. Neurol. Sci. 2005; 32: 152–166.
  24. Sartor H., Loose R., Tucha O. et al. MELAS: a neuropsychological and radiological follow-up study. Mitochondrial encephalomyopathy, lactic acidosis and stroke. Acta Neurol. Scand. 2002; 106: 309–313. 25. Sparaco M., Simonati A., Cavallaro T. et al. MELAS: clinical phenotype and morphological brain abnormalities. Acta Neuropathol. 2003; 106: 202–212.
  25. Sproule D.M., Kaufmann P. Mitochondrial encephalopathy, lactic acidosis, and strokelike episodes. Basic concepts, clinical phenotype, and therapeutic management of MELAS syndrome. Ann. NY. Acad. Sci 2008; 1142: 133–158.
  26. Zeviani M., S.Di Donato. Mitochondrial disorders. Brain 2004; 127: 2153–2172.

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Copyright (c) 2017 Kalashnikova L.A., Dobrynina L.A., Sakharova A.V., Chaykovskaya R.P., Mir-Kasimov M.F., Konovalov R.N., Shabalina A.A., Kostyreva M.M., Gnezditsky V.V., Protsky S.V.

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