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未确诊的强直性肌营养不良症:一例病例报告及文献综述

Undiagnosed myotonic dystrophy: A case report and literature review.

作者信息

Yamada Tomonori, Fukano Natsumi, Kai Kentaro, Kuribayashi Yoshihide, Jikumaru Mika, Eto Satoshi, Kawano Yasushi

机构信息

Department of Obstetrics and Gynecology, Faculty of Medicine, Oita University, Yufu, Oita 879-5593, Japan.

Department of Anesthesiology and Intensive Care Medicine, Faculty of Medicine, Oita University, Yufu, Oita 879-5593, Japan.

出版信息

Med Int (Lond). 2023 Aug 29;3(5):46. doi: 10.3892/mi.2023.106. eCollection 2023 Sep-Oct.

Abstract

Myotonic dystrophy (MD) is an autosomal dominant disorder primarily characterized by myotonia. The present study describes the case of a 42-year-old woman who was transferred to the authors' department with acute abdomen and restrictive respiratory failure. Computed tomography revealed a 15-cm right ovarian tumor and atelectasis. An abdominal right salpingo-oophorectomy was performed under general anesthesia. She was then extubated after surgery; however, shortly thereafter she was re-incubated due to poor oxygenation and was then moved to the intensive care unit (ICU) for a further analysis of weaning failure. During her stay in the ICU, weaning was attempted twice, but failed both times. The patient underwent a tracheotomy 7 days after surgery. Consultation with a neurologist suggested possible MD. Following genetic testing, type I MD with ~700-1,100 cytosine-thymine-guanine repeats in the dystrophia myotonia protein kinase gene was confirmed. The patient was then transferred to a specialty hospital at 2 months after surgery. On the whole, the case described herein suggests that clinicians need to become familiar with this disease as a differential diagnosis for post-operative weaning failure.

摘要

强直性肌营养不良(MD)是一种常染色体显性疾病,主要特征为肌强直。本研究描述了一名42岁女性的病例,该患者因急腹症和限制性呼吸衰竭被转至作者所在科室。计算机断层扫描显示右侧卵巢有一个15厘米的肿瘤及肺不张。在全身麻醉下进行了右侧输卵管卵巢切除术。术后她被拔除气管插管;然而,不久后因氧合不佳再次插管,随后被转至重症监护病房(ICU)以进一步分析脱机失败的原因。在她入住ICU期间,尝试了两次脱机,但均失败。患者在术后7天接受了气管切开术。咨询神经科医生后怀疑可能为MD。基因检测后,确诊为I型MD,其肌强直性营养不良蛋白激酶基因中有约700 - 1100个胞嘧啶 - 胸腺嘧啶 - 鸟嘌呤重复序列。患者在术后2个月被转至专科医院。总体而言,本文所述病例表明临床医生需要熟悉这种疾病,将其作为术后脱机失败的鉴别诊断。

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