枫糖浆尿病的代谢危机:罕见疾病的罕见并发症:1例报告。

IF 1.1 4区 医学 Q3 ANESTHESIOLOGY Anaesthesia and Intensive Care Pub Date : 2024-01-01 Epub Date: 2023-11-23 DOI:10.1177/0310057X231183981
Hemang P Doshi, Hemal H Vachharajani, Michael C Tchan, Mohamed A Nasreddine, Kate E Billmore
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引用次数: 0

摘要

一名患有枫糖浆尿病的19岁女性在甲型流感感染和难治性呕吐的情况下出现代谢危像,迅速发展为急性脑水肿,表现为难治性癫痫发作和意识水平下降,需要紧急插管和机械通气,持续静脉-静脉血液扩张滤过和硫喷酮昏迷。大脑的计算机断层扫描和磁共振成像显示了代谢紊乱引起的代谢危机继发的脑水肿的典型征象。由于缺乏在成人重症监护环境中管理这种临床场景的熟悉度和经验,她的管理给所有相关团队带来了多重挑战。
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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.

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来源期刊
CiteScore
2.70
自引率
13.30%
发文量
150
审稿时长
3 months
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.
期刊最新文献
JG Farrell and The Lung: An early description of intensive care delirium in literature. Promoting behavioural change by educating anaesthetists about the environmental impact of inhalational anaesthetic agents: A systematic review. MET call prevention. A cross-sectional study of the relationship between iron deficiency anaemia and chronic pain. Maximising environmental sustainability on the return to in-person conferencing: Report from a 2500-person anaesthesia meeting in Sydney, Australia.
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