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https://wslhd.intersearch.com.au/wslhdjspui/handle/1/8937
Title: | Metabolic crisis in maple syrup urine disease: an unusual complication of a rare disease: a case report |
Authors: | Doshi, Hemang P.;Vachharajani, Hemal H.;Tchan, Michel C.;Nasreddine, Mohamed A.;Billmore, Kate E. |
WSLHD Author: | Doshi, Hemang P.;Vachharajani, Hemal H.;Tchan, Michel C.;Nasreddine, Mohamed A.;Billmore, Kate E. |
Issue Date: | 2024 |
Citation: | Anaesthesia & Intensive Care 52(1):64-68, 2024 |
Abstract: | 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. |
URI: | https://wslhd.intersearch.com.au/wslhdjspui/handle/1/8937 |
DOI: | https://dx.doi.org/10.1177/0310057X231183981 |
Journal: | Anaesthesia & Intensive Care |
Type: | Journal Article |
Study or Trial: | Case Reports |
Department: | Intensive Care Genetic Medicine Radiology |
Facility: | Westmead |
Keywords: | Brain Edema Magnetic Resonance Imaging Maple Syrup Urine Disease Rare Diseases |
Appears in Collections: | Westmead Hospital 2019 - 2024 |
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