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Metabolic Emergency in Flight.

Irene A Hurst1, Amy Calhoun2, Ryan Mehren3

  • 1Department of Emergency Medicine, University of Wisconsin-Madison, Madison, WI; Division of Pediatric Emergency Medicine, University of Wisconsin-Madison, Madison, WI; School of Medicine and Public Health, University of Wisconsin-Madison, Madison, WI.

Air Medical Journal
|March 6, 2022
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Summary
This summary is machine-generated.

Inborn errors of metabolism can present with nonspecific symptoms in children. Specialized pediatric flight teams are crucial for stabilizing critically ill infants with these rare genetic disorders during transport.

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Area of Science:

  • Biochemistry
  • Pediatrics
  • Genetics

Background:

  • Inborn errors of metabolism (IEM) are genetic disorders that can lead to severe illness in infants and children.
  • Symptoms of IEM are often nonspecific, leading to delayed diagnosis as they are not always included on newborn screening panels.
  • Prompt recognition and specialized care are vital for managing acute presentations of IEM.

Observation:

  • Young children with undiagnosed IEM can present with critical, nonspecific symptoms like vomiting, altered mental status, seizures, coma, or death.
  • These critically ill patients may not respond typically to standard resuscitation protocols.
  • A case involving the aeromedical transport of a pediatric patient with a rare, undifferentiated IEM is detailed.

Findings:

  • Specialized pediatric flight teams can provide critical care during transport for infants with inborn errors of metabolism.
  • Careful consideration of resuscitation and treatment strategies is necessary for critically ill pediatric patients with IEM during flight.
  • Swift transport to a pediatric specialty center is lifesaving and prevents neurological damage.

Implications:

  • Highlights the importance of considering IEM in critically ill children with nonspecific symptoms.
  • Underscores the necessity of specialized aeromedical transport protocols for pediatric patients with rare metabolic disorders.
  • Emphasizes the role of early intervention and specialized care in improving outcomes for children with inborn errors of metabolism.