全身麻醉治疗Schwartz-Jampel综合征1例

Q2 Medicine

Anesthesiology and Pain Medicine Pub Date : 2023-03-16 eCollection Date: 2023-06-01 DOI:10.5812/aapm-129305

Pooya Derakhshan, Azadeh Habibi, Saied Amniati

{"title":"全身麻醉治疗Schwartz-Jampel综合征1例","authors":"Pooya Derakhshan, Azadeh Habibi, Saied Amniati","doi":"10.5812/aapm-129305","DOIUrl":null,"url":null,"abstract":"Introduction: Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disease characterized by muscle weakness and stiffness, abnormal bone development, short stature, joint contractures, and facial dysmorphisms. Myopathy, anatomical deformities, and malignant hyperthermia are challenging for anesthesiologists.Case presentation: This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.Conclusions: These patients may have difficult intubation and be prone to malignant hyperthermia. We managed this patient by applying Rocuronium, propofol, and C-MAC video laryngoscopy.","PeriodicalId":7841,"journal":{"name":"Anesthesiology and Pain Medicine","volume":" ","pages":"e129305"},"PeriodicalIF":0.0000,"publicationDate":"2023-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664156/pdf/","citationCount":"0","resultStr":"{\"title\":\"General Anesthesia in Schwartz-Jampel Syndrome: A Case Report.\",\"authors\":\"Pooya Derakhshan, Azadeh Habibi, Saied Amniati\",\"doi\":\"10.5812/aapm-129305\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Introduction: Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disease characterized by muscle weakness and stiffness, abnormal bone development, short stature, joint contractures, and facial dysmorphisms. Myopathy, anatomical deformities, and malignant hyperthermia are challenging for anesthesiologists.Case presentation: This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.Conclusions: These patients may have difficult intubation and be prone to malignant hyperthermia. We managed this patient by applying Rocuronium, propofol, and C-MAC video laryngoscopy.\",\"PeriodicalId\":7841,\"journal\":{\"name\":\"Anesthesiology and Pain Medicine\",\"volume\":\" \",\"pages\":\"e129305\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2023-03-16\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10664156/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Anesthesiology and Pain Medicine\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5812/aapm-129305\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/6/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q2\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anesthesiology and Pain Medicine","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5812/aapm-129305","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/6/1 0:00:00","PubModel":"eCollection","JCR":"Q2","JCRName":"Medicine","Score":null,"Total":0}

引用次数: 0

摘要

简介：Schwartz-Jampel综合征（SJS）是一种罕见的常染色体隐性疾病，其特征是肌肉无力和僵硬、骨骼发育异常、身材矮小、关节挛缩和面部畸形。肌病、解剖畸形和恶性热疗对麻醉师来说是一项挑战。病例介绍：本病例报告描述了一例SJS病例。女患者安排在xxx综合医院进行眼睑整形术。结论：这些患者插管困难，易发生恶性高热。我们通过应用罗库、丙泊酚和C-MAC视频喉镜对该患者进行了治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

查看原文本刊更多论文

General Anesthesia in Schwartz-Jampel Syndrome: A Case Report.

Introduction: Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disease characterized by muscle weakness and stiffness, abnormal bone development, short stature, joint contractures, and facial dysmorphisms. Myopathy, anatomical deformities, and malignant hyperthermia are challenging for anesthesiologists.

Case presentation: This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.

Conclusions: These patients may have difficult intubation and be prone to malignant hyperthermia. We managed this patient by applying Rocuronium, propofol, and C-MAC video laryngoscopy.

求助全文

通过发布文献求助，成功后即可免费获取论文全文。去求助

来源期刊

Anesthesiology and Pain Medicine Medicine-Anesthesiology and Pain Medicine

CiteScore

4.60

自引率

0.00%

发文量