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Ter Arkh ; 94(8): 992-998, 2022 Oct 12.
Artigo em Russo | MEDLINE | ID: mdl-36286980

RESUMO

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.


Assuntos
Gastroenteropatias , Pseudo-Obstrução Intestinal , Encefalomiopatias Mitocondriais , Oftalmoplegia , Humanos , Pseudo-Obstrução Intestinal/diagnóstico , Pseudo-Obstrução Intestinal/etiologia , Máscaras , Oftalmoplegia/etiologia , Oftalmoplegia/complicações , Encefalomiopatias Mitocondriais/diagnóstico , Encefalomiopatias Mitocondriais/complicações , Diagnóstico Diferencial , Doenças Raras/complicações , Doenças Raras/diagnóstico , Gastroenteropatias/diagnóstico
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