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Ter Arkh ; 94(8): 992-998, 2022 Oct 12.
Article in Russian | MEDLINE | ID: mdl-36286980

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.


Subject(s)
Gastrointestinal Diseases , Intestinal Pseudo-Obstruction , Mitochondrial Encephalomyopathies , Ophthalmoplegia , Humans , Intestinal Pseudo-Obstruction/diagnosis , Intestinal Pseudo-Obstruction/etiology , Masks , Ophthalmoplegia/etiology , Ophthalmoplegia/complications , Mitochondrial Encephalomyopathies/diagnosis , Mitochondrial Encephalomyopathies/complications , Diagnosis, Differential , Rare Diseases/complications , Rare Diseases/diagnosis , Gastrointestinal Diseases/diagnosis
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