Open AccessClinical case study of Kearns–Sayre syndrome: diagnosis, methods of treatment
Author(s) -
С В Власенко,
Е Н Пономаренко,
Г М Кушнир,
Л. Л. Корсунская,
Н. В. Ларина,
В. В. Шаланин,
Natalia Usoltseva
Publication year - 2018
Publication title -
nervno-myšečnye bolezni
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.139
H-Index - 3
eISSN - 2413-0443
pISSN - 2222-8721
DOI - 10.17650/2222-8721-2018-8-3-51-57
Subject(s) - kearns–sayre syndrome , etiology , mitochondrial encephalomyopathy , differential diagnosis , medicine , pediatrics , bioinformatics , mitochondrial dna , physical medicine and rehabilitation , pathology , biology , genetics , gene
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.