[Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report].

Autor: Maev IV; Yevdokimov Moscow State University of Medicine and Dentistry., Kolmakova EV; Mechnikov North-Western State Medical University., Bardakov SN; Kirov Military Medical Academy., Deev RV; Mechnikov North-Western State Medical University., Krivolapov YA; Mechnikov North-Western State Medical University., Kotkas IE; Mechnikov North-Western State Medical University., Manushina EA; Mechnikov North-Western State Medical University., Kurbatov SA; Burdenko Voronezh State Medical University., Tsygankova PG; Bochkov Research Centre of Medical Genetics., Emelin AM; Mechnikov North-Western State Medical University., Bakulina NV; Mechnikov North-Western State Medical University.
Jazyk: ruština
Zdroj: Terapevticheskii arkhiv [Ter Arkh] 2022 Oct 12; Vol. 94 (8), pp. 992-998. Date of Electronic Publication: 2022 Oct 12.
DOI: 10.26442/00403660.2022.08.201833
Abstrakt: 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.
Databáze: MEDLINE