期刊
TERAPEVTICHESKII ARKHIV
卷 94, 期 8, 页码 992-998出版社
CJSC CONSILIUM MEDICUM
DOI: 10.26442/00403660.2022.08.201833
关键词
mitochondrial diseases; mitochondrial neurogastrointestinal encephalomyopathy
The first documented case of mitochondrial neurogastrointestinal encephalomyopathy was described in 1962, characterized by a variety and ambiguity of clinical manifestations, complicating its early diagnosis and treatment. Low alertness and insufficient awareness of doctors delay the timely diagnosis of the disease. The aim of this work is to increase the alertness and awareness of narrow specialties regarding the possibility of differential diagnosis of this extremely rare detected disease based on our clinical observation.
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.
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