{"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":"<p><strong>Introduction: </strong>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.</p><p><strong>Case presentation: </strong>This case report describes one case of SJS. The female patient was scheduled for Blepharoplasty in Rasuol Akram General Hospital.</p><p><strong>Conclusions: </strong>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.</p>","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}
引用次数: 0
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.