当前位置: X-MOL 学术J. Appl. Genet. › 论文详情
Our official English website, www.x-mol.net, welcomes your feedback! (Note: you will need to create a separate account there.)
Anesthesia for Stüve-Wiedemann syndrome: a rare adult patient case report.
Journal of Applied Genetics ( IF 2.4 ) Pub Date : 2020-09-10 , DOI: 10.1007/s13353-020-00581-5
Vanessa Artilheiro 1 , Filipa Portela 1 , Ana Teresa Reis 1
Affiliation  

Stüve-Wiedemann syndrome (SWS) is a rare genetic disorder characterized by skeletal dysplasia and severe dysautonomia, evidencing a difficult airway approach and likely increased malignant hyperthermia susceptibility. Developmental dysmorphism classically worsens with age, therefore translating in a poor prognosis. In this article, we describe a case of a 27-year-old woman diagnosed with SWS proposed for abscess drainage under dissociative anesthesia. This patient has outlived the life expectancy described for SWS, acknowledging the importance of reporting this rare adult clinical case in what SWS anesthetic management is concerned.



中文翻译:

Stüve-Wiedemann综合征的麻醉:罕见的成年患者病例报告。

Stüve-Wiedemann综合征(SWS)是一种罕见的遗传性疾病,以骨骼发育异常和严重的自主神经功能异常为特征,表现为困难的气道入路和恶性高热敏感性的增加。发育畸形通常会随着年龄的增长而恶化,因此预后不良。在本文中,我们描述了一例诊断为SWS的27岁妇女,该妇女建议在分离麻醉下进行脓肿引流。该患者已经超过了SWS所描述的预期寿命,并认识到在涉及SWS麻醉管理方面报告这种罕见的成人临床病例的重要性。

更新日期:2020-09-10
down
wechat
bug