Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report

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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.

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, Moscow

Elena 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-Петербург

Sergey 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 Petersburg

Yuri 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 Petersburg

Inna 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 Petersburg

Elena 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 Petersburg

Sergei 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, Voronezh

Polina 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, Moscow

Alexey 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 Petersburg

Natalia 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 Petersburg

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2. Fig. 1. Severe diffuse atrophy of the muskles of the limbs (arms and legs).

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3. Fig. 2. Continuity of development of clinical signs of the disease.

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4. Fig. 3. Pathological changes in the gastrointestinal tract: a – subcapsular (*) area of the liver with necrosis and forming septas connective tissue, false lobule (**), fatty degeneration of hepatocytes and full-blooded sinusoids; b – necrosis (*) of the outer (longitudinal) layer of the muscular membrane of the colon, hypertrophy of leiomyocytes of the colon (**). Staining: a – hematoxylin and eosin, b – by Mallory; a ×250; b ×100.

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5. Fig. 4. Striated skeletal muscle tissue: a – granular dystrophy and fibers necrosis, transverse section; b – replacement of necrotic fibers with connective tissue, longitudinal section; c – polymorphism and different sizes of muscle fibers, edema and hypertrophy of the connective tissue sling of the muscle (endo- and perimysium), transverse section. Staining: hematoxylin and eosin; a ×400; b, c ×250.

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