Clinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment

Cover Page

Cite item

Full Text

Abstract

The article outlines the current knowledge of the etiology, pathogenesis, clinical features and diagnostic criteria of one of the forms of mitochondrial encephalomyopathy – the Kearns–Sayre syndrome. The observation of a patient with an incomplete case of the Kearns–Sayre syndrome is presented. The complexity of diagnosis and the range of differential diagnostic search as well as approaches to treatment with the use of neurotrophic factors are widely discussed in the research.

About the authors

S. V. Vlasenko

Scientific Research Institute of Children’s Balneology, Physiotherapy and Medical Rehabilitation.

Author for correspondence.
Email: fake@neicon.ru
ORCID iD: 0000-0002-1417-1164
6 Mayakovskogo St., Evpatoria 297412. Russian Federation

E. N. Ponomarenko

Evpatoria Municipal Hospital.

Email: fake@neicon.ru
ORCID iD: 0000-0003-0106-1625
22 Pobedy Prospekt, Evpatoria 297403. Russian Federation

G. M. Kushnir

Department of Neurology, Neurosurgery and Neurology, Faculty of Professional Education of the 1st Medical Faculty, S. I. Georgievsky Medical Academy, V. I. Vernadsky Crimean Federal University.

Email: fake@neicon.ru
ORCID iD: 0000-0002-9237-4629
5/7 Lenina Bul’var, Simferopol 294006. Russian Federation

L. L. Korsunskaya

Department of Neurology, Neurosurgery and Neurology, Faculty of Professional Education of the 1st Medical Faculty, S. I. Georgievsky Medical Academy, V. I. Vernadsky Crimean Federal University.

Email: fake@neicon.ru
ORCID iD: 0000-0003-0958-130X
5/7 Lenina Bul’var, Simferopol 294006. Russian Federation

N. V. Larina

Department of Neurology, Neurosurgery and Neurology, Faculty of Professional Education of the 1st Medical Faculty, S. I. Georgievsky Medical Academy, V. I. Vernadsky Crimean Federal University.

Email: fake@neicon.ru
ORCID iD: 0000-0002-6996-4823
5/7 Lenina Bul’var, Simferopol 294006. Russian Federation

V. V. Shalanin

Department of Patjological Anatomy with a sectional course of the 2nd Medical Faculty, S. I. Georgievsky Medical Academy, V. I. Vernadsy Crimean Federal University.

Email: fake@neicon.ru
ORCID iD: 0000-0001-5380-2048
5/7 Lenina Bul’var, Simferopol 294006. Russian Federation

N. I. Usulceva

Labatory for Research on Brain Integrating Activity and Sleep Recovery, Federal Research and Clinical Center of Intensive Care Medicine and Rehabilitology.

Email: neurolabfnc@yandex.ru
Build. 2, 25 Petrovka St., Moscow 107031. Russian Federation

References

  1. Vel’tishchev E. Yu., Temin P. A. Hereditary diseases of the nervous system. Moscow: Meditsina, 1998. Pp. 346–368. (In Russ.).
  2. Nikitina L. P., Gomboeva A. Ts., Solov’eva N. V., Kuznetsova N. S. Mitochondrial diseases. Part 1. Genetic apparatus of mitochondria. Zabaykal’skiy Meditsinskiy Vestnik = Zabaikalsky Medical Herald 2011;(1):134–9.(InRuss.).
  3. Sukhorukov V. S. Proceedings on mitochondrial pathology. Moscow: Medpraktika-M, 2011. 288 p. (In Russ.).
  4. DiMauro S. Mitochondrial diseases. Biochim Biophys Acta 2004;1658(1–2): 80–8. doi: 10.1016/j.bbabio.2004.03.014. PMID: 15282178.
  5. Pozdnyakov O. M., Babakova L. L., Gekht B. M. Mitochondrial cytopathy. Zhurnal nevrologii i psykhiatrii im. S. S. Korsakova = S. S. Korsakov Journal of Neurology and Psychiatry 2007;2(107):64–9. (In Russ.).
  6. Evtushenko S. K., Morozova T. M., Moskalenko M. A. et al. Identification of mutations in a child with mitochondrial encephalomyopathy. Mezhdunarodnyy nevrologicheskiy zhurnal = International Neurological Journal 2010;3(33):26–9. (In Russ.).
  7. Illarioshkin S. N. Algorithm how to diagnose mitochondrial encephalomyopathies. Atmosphere. Nervnye bolezni = Nervous Diseases 2007;(3):23–7. (In Russ.).
  8. Illarioshkin S. N. DNA-diagnostics and medical genetic counselling. Moscow: MIA, 2004. 207 p. (In Russ.).
  9. Mikhailova S. V., Zakharova E. Yu., Tsygankova P. G. et al. Clinical polymorphism of mitochondrial encephalomyopathies caused by mutations of the gamma polymerase gene. Rossiyskiy vestnik perinatologii i pediatrii = Russian Herald of Perinatology and Pediatrics 2012;4(2):51–61. (In Russ.).
  10. Kearns T. P., Sayre G. P. Retinitis pigmentosa, external ophthalmophegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol 1958;60(2):280–9. DOI: 10.1001/ archopht. 1958.00940080296016. PMID: 13558799.
  11. Khambatta S., Nguyen D. L., Beckman T. J. et al. Kearns–Sayre syndrome: a case series of 35 adults and children. Int J General Med 2014;7:325–32. doi: 10.2147/IJGM.S65560. PMID: 25061332.
  12. DiMauro S., Hirano M. Mitochondrial DNA Deletion Syndromes. doi: 10.1007/springerreference_100944. PMID: 20301382. In: GeneReviews® [Internet]. Eds.: Adam M. P., Ardinger H. H., Pagon R. A. et al. Seattle (WA): University of Washington, Seattle, 1993–2018. Available at: http://www.ncbi. nlm.nih.gov/books/NBK1203/.
  13. Nikolaeva E. A., Novikov P. V. The pro blem of diagnosis and differential diagnosis of mitochondrial diseases in children. Pediatrics. Zhurnal im. G. N. Speranskogo = Journal named after G. N. Speransky 2014;(6):75–83. (In Russ.).
  14. Yablonskaya M. I., Nikolaeva E. A., Shatalov P. A., Kharabadze M. N. Polymorphism of clinical manifestations of progressive mitochondrial encephalomyopathy associated with the mutation of the POLG1 gene. Rossiyskiy vestnik perinatologii I pediatrii = Russian Herald of Perinatology and Pediatrics 2016;(3):51–7. (In Russ.).
  15. Ahmadian A., Ehh M., Hober S. Pyrosequencing: history, biochemistry and future. Clinica Chimica Acta 2006;336(1–2): 83–94. doi: 10.1016/j.cccn.2005.04.038. PMID: 16165119.
  16. Chinnery P. F., DiMauro S., Shanske S. et al. Risk of developing a mitochondrial DNA deletion disorder. Lancet 2004;364(9434):592–96.
  17. Martikainen M. H., Chinnery P. F. Mitochondrial disease: mimics and chameleons. Pract Neurol 2015;15(6):424–35. doi: 10.1136/practneurol-2015-001191. PMID: 26201977.
  18. Sukhorukov V. S. To the d evelopment of rational bases of energy therapy. Ratsional’naya pharmakoterapiya = Ra tional Pharmacotherapy 2007;(2):40–7. (In Russ.).
  19. Miles M. V., Miles L., Tang P. H. et al. Systematic evaluation of muscle coenzyme Q10 content in children with mitochondrial respiratory chain enzyme deficiencies. Mitochondrion 2008;8(2): 70–80. doi: 10.1016/j.mito.2008.01.003. PMID: 18313367.
  20. Finsterer J., Bindu P. S. Therapeutic strategies for mitochondrial disorders. Pediatr Neurol 2015;52(3):302–13. doi: 10.1016/j.pediatrneurol. 2014.06.023. PMID: 25701186.
  21. Koga Y., Akita Y., Nishioka J. et al. MELAS and L-arginine therapy. Mitochondrion 2007;7(1–2):133–9. doi: 10.1016/j.mito.2006.11.006. PMID: 17276739.
  22. Federal guidelines on the use of medicines (formular system). Issue XVI. Moscow: Ekho, 2015. (In Russ.).
  23. Rai P. K., Russell O. M., Lightowlers R. N., Turnbull D. M. Potential compounds for the treatment of mitochondrial disease. Br Med Bull 2015;116:5–18. doi: 10.1093/bmb/ldv046. PMID: 26590387.
  24. Ваmman М. М., Shipp J. R., Jiang J. Mechanical load increases muscle IGF-1 and androgen receptor mRNA concentrations in humans. Am J Physiol Endocrinol Metab 2001;280(3):383–90. doi: 10.1152/ajpendo.2001.280.3.E383. PMID: 11171591.
  25. Bermon S., Ferrari P., Bernard P. et al. Responses of total and free insulin-like growth factor-1 and insulinlike growth factor-1 binding protein-3 after resistance exercise and training in elderly subjects. Acta Physiol Scand 1999;165(1):51–6. doi: 10.1046/j.1365-201x.1999.00471.x. PMID: 10072097.
  26. Pizova N. V., Sokolov M. A., Izmailov I. A. Cellex in the treatment of patients with acute impairment of cerebral circulation: the proceedings of the Russian multicentre comparative open clinical examination. Zhurnal nevrologii i psykhiatrii im. S. S. Korsakova = S. S. Korsakov Journal of Neurology and Psychiatry 2014;(5):22–6. (In Russ.).

Supplementary files

Supplementary Files
Action
1. JATS XML
Download

Copyright (c) 2018 Vlasenko S.V., Ponomarenko E.N., Kushnir G.M., Korsunskaya L.L., Larina N.V., Shalanin V.V., Usulceva N.I.

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.
СМИ зарегистрировано Федеральной службой по надзору в сфере связи, информационных технологий и массовых коммуникаций (Роскомнадзор).
Регистрационный номер и дата принятия решения о регистрации СМИ: серия ЭЛ № ФС 77 - 85909 от  25.08.2023.