Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report

被引：0

作者：

Maev, Igor V. ^{[1
]}

Kolmakova, Elena V. ^{[2
]}

Bardakov, Sergey N. ^{[3
]}

Deev, Roman V. ^{[2
]}

Krivolapov, Yuri A. ^{[2
]}

Kotkas, Inna E. ^{[2
]}

Manushina, Elena A. ^{[2
]}

Kurbatov, Sergei A. ^{[4
]}

Tsygankova, Polina G. ^{[5
]}

Emelin, Alexey M. ^{[2
]}

Bakulina, Natalia V. ^{[2
]}

机构：

[1] Yevdokimov Moscow State Univ Med & Dent, Moscow, Russia

[2] Mechnikov North Western State Med Univ, St Petersburg, Russia

[3] Kirov Mil Med Acad, St Petersburg, Russia

[4] Burdenko Voronezh State Med Univ, Voronezh, Russia

[5] Bochkov Res Ctr Med Genet, Moscow, Russia

来源：

TERAPEVTICHESKII ARKHIV | 2022年 / 94卷 / 08期

关键词：

mitochondrial diseases; mitochondrial neurogastrointestinal encephalomyopathy; FEATURES; MNGIE;

D O I：

10.26442/00403660.2022.08.201833

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：992 / 998

页数：7

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