Ishikawa Emi, Shibuya Makiko, Kimura Yukifumi, Kamekura Nobuhito, Fujisawa Toshiaki
Department of Dental Anesthesiology, Faculty of Dental Medicine and Graduate School of Dental Medicine, Hokkaido University, Sapporo, Japan.
J Dent Anesth Pain Med. 2022 Apr;22(2):155-159. doi: 10.17245/jdapm.2022.22.2.155. Epub 2022 Mar 25.
Cohen syndrome is a rare genetic disorder associated with mutations in the VPS13B gene. Individuals with this disorder present with diverse clinical manifestations, including muscle hypotonia, intellectual disabilities, and typical facial characteristics, such as prominent upper central incisors and micrognathia. General anesthesia was administered to a 23-year-old man with Cohen syndrome. Although we observed prominent upper central incisors, an overjet of 10 mm, micrognathia, and thyromental distance of 4 cm, hypotonia was not observed in the patient. Intubation was rendered difficult when performing a direct laryngoscopy. However, smooth intubation was achieved using a video laryngoscope. The patient's train of four (TOF) count remained zero close to 60 min after rocuronium administration, suggesting that the drug's muscle-relaxant effect may have been prolonged. A TOF ratio of 0.79 was confirmed 130 min after rocuronium administration, and a TOF ratio of 1.0 was confirmed after administration of 150 mg of sugammadex. The patient's respiration remained stable after extubation, and no recurarization of muscle relaxation was observed. As demonstrated in this case report, it is important to closely monitor recovery from muscle relaxation and prepare multiple techniques for airway management in general anesthesia management of patients with Cohen syndrome.
科恩综合征是一种罕见的遗传性疾病,与VPS13B基因突变有关。患有这种疾病的个体表现出多种临床表现,包括肌张力减退、智力障碍以及典型的面部特征,如上门牙突出和小颌畸形。对一名患有科恩综合征的23岁男性实施全身麻醉。尽管我们观察到患者有上门牙突出、10毫米的覆盖、小颌畸形以及4厘米的甲状软骨-颏下距离,但未观察到肌张力减退。直接喉镜检查时插管困难。然而,使用视频喉镜实现了顺利插管。罗库溴铵给药后近60分钟,患者的四个成串刺激(TOF)计数仍为零,提示该药物的肌肉松弛作用可能延长。罗库溴铵给药130分钟后确认TOF比值为0.79,给予150毫克舒更葡糖后确认TOF比值为1.0。拔管后患者呼吸保持稳定,未观察到肌肉松弛的再次出现。如本病例报告所示,在科恩综合征患者的全身麻醉管理中,密切监测肌肉松弛恢复情况并准备多种气道管理技术非常重要。