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Background <p>Delayed recognition of metabolic and neuro-critical disorders in children presenting to emergency departments (EDs) contributes significantly to morbidity and poor outcomes. Early symptoms are often subtle or nonspecific, mimicking common illnesses and leading to missed or delayed diagnoses. This review synthesizes recent evidence to identify frequently overlooked high-risk conditions and evaluate strategies to improve early identification, stabilization, and outcomes.</p> Main body <p>This review identifies several categories of under-recognized pediatric emergencies. Metabolic crises often result from inborn errors of metabolism (IEMs), including urea cycle defects, organic acidemias, mitochondrial disorders, and fatty acid oxidation disorders, which can present with nonspecific findings like vomiting and lethargy. Neuro-critical emergencies frequently missed include nonconvulsive status epilepticus (NCSE), autoimmune encephalitis, acute disseminated encephalomyelitis (ADEM), and early signs of elevated intracranial pressure (ICP) from infection, trauma, or hydrocephalus. Key contributors to delayed diagnosis are the absence of focal deficits, low clinical suspicion for rare disorders, and the underutilization of rapid diagnostic tools. Consequences of delay range from metabolic decompensation to irreversible neurologic injury. Evidence-based strategies to enhance care include the implementation of red-flag-triggered testing algorithms (e.g., point-of-care ammonia, glucose, lactate, and ketones), early initiation of empiric metabolic protocols, and the expanded use of bedside tools such as point-of-care ultrasound (optic nerve sheath diameter) and continuous EEG where available. Furthermore, integrating clinical decision support into electronic health records and providing focused ED training modules have proven effective in reducing time-to-diagnosis.</p> Conclusion <p>Enhancing the early recognition of pediatric metabolic and neuro-critical emergencies in the ED requires a multifaceted approach. Systematic implementation of evidence-based protocols, greater availability and use of point-of-care diagnostics, and improved interdisciplinary collaboration are essential to reduce diagnostic delays, prevent morbidity, and improve patient outcomes.</p>

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The invisible emergencies: metabolic and neuro-critical disorders often missed in the pediatric ED — a narrative review

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年3月31日

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  • Eslam Abady,
  • Karrar Naeem Karam,
  • Sayyid Qasim Khaleel,
  • Kayleigh Kuhn,
  • Panos Tamvakologos,
  • Kevin Thomas Mathew

摘要

Background

Delayed recognition of metabolic and neuro-critical disorders in children presenting to emergency departments (EDs) contributes significantly to morbidity and poor outcomes. Early symptoms are often subtle or nonspecific, mimicking common illnesses and leading to missed or delayed diagnoses. This review synthesizes recent evidence to identify frequently overlooked high-risk conditions and evaluate strategies to improve early identification, stabilization, and outcomes.

Main body

This review identifies several categories of under-recognized pediatric emergencies. Metabolic crises often result from inborn errors of metabolism (IEMs), including urea cycle defects, organic acidemias, mitochondrial disorders, and fatty acid oxidation disorders, which can present with nonspecific findings like vomiting and lethargy. Neuro-critical emergencies frequently missed include nonconvulsive status epilepticus (NCSE), autoimmune encephalitis, acute disseminated encephalomyelitis (ADEM), and early signs of elevated intracranial pressure (ICP) from infection, trauma, or hydrocephalus. Key contributors to delayed diagnosis are the absence of focal deficits, low clinical suspicion for rare disorders, and the underutilization of rapid diagnostic tools. Consequences of delay range from metabolic decompensation to irreversible neurologic injury. Evidence-based strategies to enhance care include the implementation of red-flag-triggered testing algorithms (e.g., point-of-care ammonia, glucose, lactate, and ketones), early initiation of empiric metabolic protocols, and the expanded use of bedside tools such as point-of-care ultrasound (optic nerve sheath diameter) and continuous EEG where available. Furthermore, integrating clinical decision support into electronic health records and providing focused ED training modules have proven effective in reducing time-to-diagnosis.

Conclusion

Enhancing the early recognition of pediatric metabolic and neuro-critical emergencies in the ED requires a multifaceted approach. Systematic implementation of evidence-based protocols, greater availability and use of point-of-care diagnostics, and improved interdisciplinary collaboration are essential to reduce diagnostic delays, prevent morbidity, and improve patient outcomes.