Russian Journal of Child NeurologyRussian Journal of Child NeurologyРусский журнал детской неврологии2073-88032412-9178Publishing House ABV Press16810.17650/2073-8803-2016-11-3-57-61CLINICAL OBSERVATIONSКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯTHE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGISTМитохондриальное заболевание – NARP-синдром – в практике детского неврологаShishkinaE. V.ШишкинаЕ. В.
Russian Federation

1 Partizana Zheleznyaka St., Krasnoyarsk, 660022

660022, Красноярск, ул. Партизана Железняка, 1

BarkhatovM. V.БархатовМ. В.
Russian Federation

1 Partizana Zheleznyaka St., Krasnoyarsk, 660022

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

660022, Красноярск, ул. Партизана Железняка, 1

660074, Красноярск, ул. Академика Киренского, 2А

bmv73@mail.ruBorisovaE. V.БорисоваЕ. В.
Russian Federation

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

660074, Красноярск, ул. Академика Киренского, 2А

FalalaleevaS. O.ФалалееваС. О.
Russian Federation

1 Partizana Zheleznyaka St., Krasnoyarsk, 660022

660022, Красноярск, ул. Партизана Железняка, 1

ShchekalevaN. A.ЩекалеваН. А.
Russian Federation

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

660074, Красноярск, ул. Академика Киренского, 2А

MakarevskayaN. Yu.МакаревскаяН. Ю.
Russian Federation

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

660074, Красноярск, ул. Академика Киренского, 2А

ChubkoM. A.ЧубкоМ. А.
Russian Federation

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

660074, Красноярск, ул. Академика Киренского, 2А

Department of Nervous System Diseases with Course of Medical Rehabilitation, Faculty of General Medicine, Prof. V. F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Health of RussiaКафедра нервных болезней с курсом медицинской реабилитации ПО лечебного факультета ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииDepartment of Nervous System Diseases with Course of Medical Rehabilitation, Faculty of General Medicine, Prof. V. F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Health of RussiaKrasnoyarsk Territorial Clinical Center for Maternity and Childhood ProtectionКафедра нервных болезней с курсом медицинской реабилитации ПО лечебного факультета ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииКГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»Krasnoyarsk Territorial Clinical Center for Maternity and Childhood ProtectionКГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»Department of Childhood Diseases, Faculty of Pediatrics, Prof. V. F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Health of Russiaкафедра детских болезней с курсом ПО педиатрического факультета ФГБОУ ВО «Красноярский государственный медицинский университет им. проф. В.Ф. Войно-Ясенецкого» Минздрава РоссииKrasnoyarsk Territorial Clinical Center for Maternity and Childhood ProtectionКГБУЗ «Красноярский краевой клинический центр охраны материнства и детства»1507201611357613011201630112016Copyright ©; 2016, ABV-PressCopyright ©; 2016, АБВ-пресс2016ABV-PressАБВ-прессhttps://rjdn.abvpress.ru/jour/about/editorialPolicieshttps://rjdn.abvpress.ru/jour/article/view/168

Mitochondrial diseases in children are one of the most important interdisciplinary problems in modern pediatrics. The diseases of this group occur due to mutations in nuclear and/or mitochondrial DNA and are manifested by a brain, heart and skeletal muscle lesion (encephalocardiomyopathy). The authors describe a clinical case of NARP (neuropathy, ataxia, retinitis pigmentosa) syndrome in a baby during the first year of life. Early onset in the presence of complete health, the polymorphism of clinical manifestations, such as a central nervous system lesion, muscle weakness, impaired psychomotor development, and seizures, aroused suspicion of the mitochondrial disease; however, the final diagnosis was established by molecular genetic testing. The m8993T>G mutation was found in the MT-ATP6 gene, which confirmed the mitochondrial disease NARP syndrome. The description of the clinical case of the mitochondrial disease in a baby during the first year of life is of real interest to neurologists and pediatricians. Signs, such as the appearance or worsening of initially existing developmental delay in the early period of life, addition of muscle hypotonia with a change in the reflex areas, loss of acquired skills, impaired vision and hearing, and the progressive nature of the disease, may be indicative of the mitochondrial disease and the need to exclude diseases of this group by specific studies, including molecular genetic testing.

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