Children with syndromes often access emergency services and they may present unique challenges for emergency clinicians. Our recent issue The Child With a Syndrome: Considerations for Management in the Emergency Department reviews 3 pediatric syndromes—spina bifida, Down syndrome, and Marfan syndrome—each of which are associated with unique emergent conditions.
This issue reviews the pitfalls in interpreting routine testing and discusses the diagnostic and therapeutic approaches helpful in evaluating children with syndromes.
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Here are a few key points:
- Unique diagnostic and therapeutic considerations are needed for the evaluation and management of the child with a syndrome who presents to the emergency department.
- Children with spina bifida exhibit motor and sensory deficits below the level of the affected spinal cord lesion, with motor, bladder, and bowel dysfunction. They may also have Chiari malformations and hydrocephalus, requiring shunt placement.
- All children with spina bifida are at risk for urinary tract infection (UTI) due to bladder dysfunction. Initial testing for febrile children with spina bifida includes urinalysis, urine culture, complete blood cell count and electrolytes, glucose, blood urea nitrogen, and creatinine. Diagnostic imaging or blood culture should be considered, based on clinical presentation.
Last Updated on January 26, 2023