Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report
- Authors: Maev I.V.1, Kolmakova E.V.2, Bardakov S.N.3, Deev R.V.2, Krivolapov Y.A.2, Kotkas I.E.2, Manushina E.A.2, Kurbatov S.A.4, Tsygankova P.G.5, Emelin A.M.2, Bakulina N.V.2
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Affiliations:
- Yevdokimov Moscow State University of Medicine and Dentistry
- Mechnikov North-Western State Medical University
- Kirov Military Medical Academy
- Burdenko Voronezh State Medical University
- Bochkov Research Centre of Medical Genetics
- Issue: Vol 94, No 8 (2022)
- Pages: 992-998
- Section: Clinical notes
- URL: https://journals.rcsi.science/0040-3660/article/view/111832
- DOI: https://doi.org/10.26442/00403660.2022.08.201833
- ID: 111832
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Abstract
The first documented case of mitochondrial neurogastrointestinal encephalomyopathy was described in 1962 by R. Luft. The variety and am-biguity of the clinical manifestations of the disease complicate its early diagnosis and treatment. The first clinical manifestations of the disease are associated with the pathology of the gastrointestinal tract. Low alertness and insufficient awareness of doctors delays the timely diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. The aim of the work is to increase the alertness and awareness of narrow specialties about the possibility of differential diagnosis of an extremely rare detected disease on the base of our clinical observation.
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##article.viewOnOriginalSite##About the authors
Igor V. Maev
Yevdokimov Moscow State University of Medicine and Dentistry
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0001-6114-564X
акад. РАН, д-р мед. наук, проф., зав. каф. пропедевтики внутренних болезней и гастроэнтерологии лечебного фак-та ФГБОУ ВО «МГМСУ им. А.И. Евдокимова»
Russian Federation, MoscowElena V. Kolmakova
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0002-1745-6982
канд. мед. наук, доц. каф. внутренних болезней, клинической фармакологии и нефрологии ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Санкт-ПетербургSergey N. Bardakov
Kirov Military Medical Academy
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0002-3804-6245
канд. мед. наук, доц. каф. нефрологии и эфферентной терапии ФГБОУ ВО «ВМА им. С.М. Кирова»
Russian Federation, Saint Petersburg
Roman V. Deev
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0001-8389-3841
канд. мед. наук, доц., зав. каф. патологической анатомии ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgYuri A. Krivolapov
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0002-9872-0326
д-р мед. наук, проф., зав. патологоанатомическим отд-нием клинической молекулярной морфологии ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgInna E. Kotkas
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0003-4605-9887
канд. мед. наук, зав. хирургическим отд-нием Клиники им. Э.Э. Эйхвальда, доц. каф. факультетской хирургии им. И.И. Грекова ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgElena A. Manushina
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
зам. глав. врача по Клинике им. Э.Э. Эйхвальда ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgSergei A. Kurbatov
Burdenko Voronezh State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0002-8886-5222
канд. мед. наук, врач-генетик, невролог, врач функциональной диагностики
Russian Federation, VoronezhPolina G. Tsygankova
Bochkov Research Centre of Medical Genetics
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0003-3998-3609
канд. биол. наук, ст. науч. сотр. ФГБНУ «МГНЦ им. акад. Н.П. Бочкова»
Russian Federation, MoscowAlexey M. Emelin
Mechnikov North-Western State Medical University
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0003-4109-0105
ординатор каф. патологической анатомии ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgNatalia V. Bakulina
Mechnikov North-Western State Medical University
Author for correspondence.
Email: Elena.Kolmakova@szgmu.ru
ORCID iD: 0000-0003-4075-4096
д-р мед. наук, зав. каф. внутренних болезней, клинической фармакологии и нефрологии ФГБОУ ВО «СЗГМУ им. И.И. Мечникова»
Russian Federation, Saint PetersburgReferences
- Беляева А.М. Митохондриальная нейрогастроинтестинальная энцефаломиопатия. Много вопросов, мало ответов. Тенденция развития науки и образования. 2020:63-1:28-32 [Belyaeva AM. Mitochondrial neurogastrointestinal encephalomyopathy. Many questions, few answers. Development Trend of Science and Education. 2020:63-1:28-32 (in Russian)]. doi: 10.18411/lj-07-2020-06
- Курбатов С.А., Федотов В.П., Цыганкова П.Г., и др. Дифференциальная диагностика митохондриальной нейрогастроинтестинальной энцефаломиопатии. Первое клиническое описание в России. Нервно-мышечные болезни. 2015;5(2):44-54 [Kurbatov SA, Fedotov VP, Tsygankova PG, et al. Differential diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. The first clinical description in Russia. Neuromuscular Diseases. 2015;5(2):44-54 (in Russian)]. doi: 10.17650/2222-8721-2015-5-2-44-54
- Li S, Marti R, Hirano M. Mitochondrial Neurogastrointestinal Encephalomyopathy Disease (MNGIE). In: Diagnosis and Management of Mitochondrial Disorders. 2019; p. 205-22. doi: 10.1007/978-3-030-05517-2_13
- Hirano M, Silvestri G, Blake DM, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorer. Neurology. 1994;44(4):721-7. doi: 10.1212/wnl.44.4.721
- Lara MC, Valentino ML, Torres-Torronteras J, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches. Biosci Rep. 2007;27(1-3):151-63. doi: 10.1007/s10540-007-9043-2
- Nishino I, Spinazzola A, Papadimitriou A, et al. Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations. Ann Neurol. 2000;47(6):792-800. PMID: 10852545.
- Kurihara T. Mitochondrial Neurogastrointestinal encephalomyopathy and its Pathophysiology. Intern Med. 2006;45(7):415-6. doi: 10.2169/internalmedicine.45.0148
- Hirano I, Stevoff C, Hirano M. Gastrointestinal manifesta- tions of mitochondrial neurogastrointestinal encephalo- myopathy (MNGIE). Gastroenterology. 2001;120(5):224. DOI:10/1016/s0016-5085(01)81114-8
- Hirano M, Carelli V, De Giorgio R, et al. Mitochondrial neurogastrointestinal encephalomyopathyт (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network. J Inherit Metab Dis. 2021;44(2):376-87. doi: 10.1002/jimd.12300
- Bax BE. Mitochondrial neurogastrointestinal encephalomyopathy: approaches to diagnosis and treatment. J Transl Genet Genom. 2020;4:1-16. doi: 10.20517/jtgg.2020.08
- Казаков В.М., Скоромец А.А., Руденко Д.И., и др. Митохондриальные болезни: миопатии, энцефаломиопатии и энцефаломиелополиневропатии. Неврологический журнал. 2018;23(6):272-81 [Kazakov VM, Skoromets АА, Rudenko DI, et al. Mitochondrial diseases: myopathies, encephalomyopathies and encephalomyelopolineuropathies. Neurological Journal. 2018;23(6):272-81 (in Russian)]. doi: 10.18821/1/560-9545-2018-23-6-272-281
- Millar WS, Lignelli A, Hirano M. MRI of five patients with mitochondrial neurogastroencephalomyopathy. AJR Am J Roentgenol. 2004;182(6):1537-41. doi: 10.2214/ajr.182.6.1821537
- Chaudhry N, Patidar Y, Puri V. Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes unveiled by valproate. J Pediatr Neurosci. 2013;8:135-7. DOI:10/4103/1817-1745.117847
- Иллариошкин С.Н. Алгоритм диагностики митохондриальных энцефаломиопатий. Атмосфера. Нервные болезни. 2007;(3):23-7 [Illarioshkin S.N. Algoritm diagnostiki mitokhondrial'nykh entsefalomiopatii. Atmosfera. Nervnye bolezni. 2007;(3):23-7 (in Russian)].
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