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[隐匿性线粒体神经胃肠性脑肌病。病例报告]

[Masks hiding mitochondrial neurogastrointestinal encephalomyopathy. Case report].

作者信息

Maev I V, Kolmakova E V, Bardakov S N, Deev R V, Krivolapov Y A, Kotkas I E, Manushina E A, Kurbatov S A, Tsygankova P G, Emelin A M, Bakulina N V

机构信息

Yevdokimov Moscow State University of Medicine and Dentistry.

Mechnikov North-Western State Medical University.

出版信息

Ter Arkh. 2022 Oct 12;94(8):992-998. doi: 10.26442/00403660.2022.08.201833.

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.

摘要

1962年,R. 卢夫首次记录了线粒体神经胃肠性脑肌病的病例。该疾病临床表现的多样性和模糊性使其早期诊断和治疗变得复杂。该疾病的最初临床表现与胃肠道病变有关。医生的警惕性不高和认识不足导致线粒体神经胃肠性脑肌病的诊断延迟。这项工作的目的是基于我们的临床观察,提高专科医生对这种极其罕见疾病进行鉴别诊断可能性的警惕性和认识。

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