Hemang P Doshi, Hemal H Vachharajani, Michael C Tchan, Mohamed A Nasreddine, Kate E Billmore
{"title":"枫糖浆尿病的代谢危机:罕见疾病的罕见并发症:1例报告。","authors":"Hemang P Doshi, Hemal H Vachharajani, Michael C Tchan, Mohamed A Nasreddine, Kate E Billmore","doi":"10.1177/0310057X231183981","DOIUrl":null,"url":null,"abstract":"<p><p>A 19-year-old woman with known maple syrup urine disease presented to hospital with metabolic crisis in the setting of influenza type A infection and intractable vomiting, rapidly progressing to acute cerebral oedema manifesting as refractory seizures and decreased level of consciousness needing emergency intubation and mechanical ventilation, continuous veno-venous haemodiafiltration and thiopentone coma. A computed tomography scan and magnetic resonance imaging of the brain demonstrated classic signs of cerebral oedema secondary to a metabolic crisis from the metabolic disorder. Her management posed multiple challenges to all teams involved due to lack of familiarity and experience in managing this clinical scenario in the adult intensive care setting.</p>","PeriodicalId":7746,"journal":{"name":"Anaesthesia and Intensive Care","volume":null,"pages":null},"PeriodicalIF":1.1000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report.\",\"authors\":\"Hemang P Doshi, Hemal H Vachharajani, Michael C Tchan, Mohamed A Nasreddine, Kate E Billmore\",\"doi\":\"10.1177/0310057X231183981\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>A 19-year-old woman with known maple syrup urine disease presented to hospital with metabolic crisis in the setting of influenza type A infection and intractable vomiting, rapidly progressing to acute cerebral oedema manifesting as refractory seizures and decreased level of consciousness needing emergency intubation and mechanical ventilation, continuous veno-venous haemodiafiltration and thiopentone coma. A computed tomography scan and magnetic resonance imaging of the brain demonstrated classic signs of cerebral oedema secondary to a metabolic crisis from the metabolic disorder. Her management posed multiple challenges to all teams involved due to lack of familiarity and experience in managing this clinical scenario in the adult intensive care setting.</p>\",\"PeriodicalId\":7746,\"journal\":{\"name\":\"Anaesthesia and Intensive Care\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.1000,\"publicationDate\":\"2024-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Anaesthesia and Intensive Care\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1177/0310057X231183981\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2023/11/23 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q3\",\"JCRName\":\"ANESTHESIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Anaesthesia and Intensive Care","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1177/0310057X231183981","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/11/23 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"ANESTHESIOLOGY","Score":null,"Total":0}
Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report.
A 19-year-old woman with known maple syrup urine disease presented to hospital with metabolic crisis in the setting of influenza type A infection and intractable vomiting, rapidly progressing to acute cerebral oedema manifesting as refractory seizures and decreased level of consciousness needing emergency intubation and mechanical ventilation, continuous veno-venous haemodiafiltration and thiopentone coma. A computed tomography scan and magnetic resonance imaging of the brain demonstrated classic signs of cerebral oedema secondary to a metabolic crisis from the metabolic disorder. Her management posed multiple challenges to all teams involved due to lack of familiarity and experience in managing this clinical scenario in the adult intensive care setting.
期刊介绍:
Anaesthesia and Intensive Care is an international journal publishing timely, peer reviewed articles that have educational value and scientific merit for clinicians and researchers associated with anaesthesia, intensive care medicine, and pain medicine.