一名在突发呼吸衰竭后被诊断为强直性肌营养不良的患者：病例报告。

A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report.

作者信息

Nishihara Noriaki, Tachibana Shunsuke, Sonoda Hajime, Yamakage Michiaki

机构信息

Department of Anesthesiology, Sapporo Medical University School of Medicine, South 1, West 16, Chuo-ku, Sapporo, Hokkaido, 060-8543, Japan.

Department of Anesthesiology, Kushiro City General Hospital, Shunkodai 1-12, Kushiro, Hokkaido, 085-0822, Japan.

出版信息

JA Clin Rep. 2020 Oct 8;6(1):80. doi: 10.1186/s40981-020-00388-7.

DOI:10.1186/s40981-020-00388-7

PMID:33033872

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7544781/

Abstract

BACKGROUND

Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause.

CASE PRESENTATION

A 62-year-old woman developed acute onset of dyspnea after showing hypertension and tachycardia and was transported to our hospital. On arrival at our institution, SpO was 80% with a non-rebreather mask. With a diagnosis of acute phase heart failure, she underwent tracheal intubation. However, weaning from the respirator was difficult in the intensive care unit (ICU). A detailed interview revealed that her brother was affected with myotonic dystrophy type 1. She was also diagnosed with myotonic dystrophy type 1 by a genetic test.

CONCLUSIONS

Taking a careful past and family history and prompt genetic testing is required on suspicion of neuromuscular diseases in a patient with respiratory failure by an unknown cause.

摘要

背景

强直性肌营养不良是一种影响包括骨骼肌在内的多个器官的疾病，并可导致呼吸衰竭。我们描述了一名因1型强直性肌营养不良导致呼吸衰竭且诊断延迟的患者。

病例介绍

一名62岁女性在出现高血压和心动过速后急性发作呼吸困难，被送往我院。到达我院时，使用非重复呼吸面罩时血氧饱和度为80%。诊断为急性期心力衰竭后，她接受了气管插管。然而，在重症监护病房（ICU）脱机困难。详细询问病史发现她的哥哥患有1型强直性肌营养不良。通过基因检测，她也被诊断为1型强直性肌营养不良。