THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST

E. V. Shishkina; Шишкина Е. В.; M. V. Barkhatov; Бархатов М. В.; E. V. Borisova; Борисова Е. В.; S. O. Falalaleeva; Фалалеева С. О.; N. A. Shchekaleva; Щекалева Н. А.; N. Yu. Makarevskaya; Макаревская Н. Ю.; M. A. Chubko; Чубко М. А.

doi:10.17650/2073-8803-2016-11-3-57-61

THE MITOCHONDRIAL DISEASE NARP SYNDROME IN THE PRACTICE OF A PEDIATRIC NEUROLOGIST

Authors: Shishkina E.V.¹, Barkhatov M.V.¹^,2, Borisova E.V.², Falalaleeva S.O.³, Shchekaleva N.A.², Makarevskaya N.Y.², Chubko M.A.²
Affiliations:
1. 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 Russia
2. Krasnoyarsk Territorial Clinical Center for Maternity and Childhood Protection
3. Department of Childhood Diseases, Faculty of Pediatrics, Prof. V. F. Voyno-Yasenetskiy Krasnoyarsk State Medical University, Ministry of Health of Russia
Issue: Vol 11, No 3 (2016)
Pages: 57-61
Section: CLINICAL OBSERVATIONS
Published: 30.11.2016
URL: https://rjdn.abvpress.ru/jour/article/view/168
DOI: https://doi.org/10.17650/2073-8803-2016-11-3-57-61
ID: 168

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Abstract

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.

Keywords

developmental delay, mitochondrial diseases, NARP syndrome, neuropathy syndrome, ataxia, retinitis pigmentosa syndrome, clinical manifestations, diagnosis, treatment

About the authors

E. V. Shishkina

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 Russia

Email: fake@neicon.ru

1 Partizana Zheleznyaka St., Krasnoyarsk, 660022

Russian Federation

M. V. Barkhatov

Author for correspondence.
Email: bmv73@mail.ru

1 Partizana Zheleznyaka St., Krasnoyarsk, 660022

2A Akademika Kirenskogo St., Krasnoyarsk, 660074

Russian Federation

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