Yamada Tomonori, Fukano Natsumi, Kai Kentaro, Kuribayashi Yoshihide, Jikumaru Mika, Eto Satoshi, Kawano Yasushi
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.
Med Int (Lond). 2023 Aug 29;3(5):46. doi: 10.3892/mi.2023.106. eCollection 2023 Sep-Oct.
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.
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。
