未确诊的强直性肌营养不良:病例报告和文献综述。

Medicine international Pub Date : 2023-08-29 eCollection Date: 2023-09-01 DOI:10.3892/mi.2023.106
Tomonori Yamada, Natsumi Fukano, Kentaro Kai, Yoshihide Kuribayashi, Mika Jikumaru, Satoshi Eto, Yasushi Kawano
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引用次数: 0

摘要

强直性肌营养不良(MD)是一种常染色体显性遗传疾病,主要以肌强直为特征。本研究描述了一名42岁女性的病例,她因急腹症和限制性呼吸衰竭被转移到作者的科室。计算机断层扫描显示右侧卵巢肿瘤15厘米,肺不张。在全身麻醉下进行腹部右侧输卵管卵巢切除术。手术后拔管;然而,不久之后,由于氧合不良,她被重新孵化,然后被转移到重症监护室(ICU),对断奶失败进行进一步分析。在她入住重症监护室期间,曾两次尝试断奶,但两次都失败了。患者在手术后7天接受了气管切开术。与神经科医生协商后提出了可能的MD。经过基因测试,在肌营养不良肌强直蛋白激酶基因中具有约700-1100个胞嘧啶-胸腺嘧啶-鸟嘌呤重复序列的I型MD被证实。手术后2个月,患者被转移到专科医院。总的来说,本文所述的病例表明,临床医生需要熟悉这种疾病,将其作为术后断奶失败的鉴别诊断。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Undiagnosed myotonic dystrophy: A case report and literature review.

Undiagnosed myotonic dystrophy: A case report and literature review.

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.

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