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The Child With a Syndrome: Considerations for Management in the Emergency Department
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Publication Date: April 2021 (Volume 18, Number 04)

CME Credits: 4 AMA PRA Category 1 Credits™, 4 ACEP Category I Credits, 4 AAP Prescribed Credits, 4 AOA Category 2-A or 2-B Credits. CME expires 04/01/2024.

Authors

Adam Sigal, MD, FACEP, FAAEM
Associate Program Director, Emergency Medicine Residency Program, Reading Hospital, West Reading, PA
Shannon Zik, DO
Emergency Medicine Chief Resident, Reading Hospital, West Reading, PA
Christopher Valente, MD
Chief, Section of Pediatric Emergency Medicine, Department of Emergency Medicine, Reading Hospital, Tower Health, West Reading, PA

Peer Reviewers

Helio F. Pedro, MD
Section Chief, Center for Genetic and Genomic Medicine, Hackensack University Medical Center; Assistant Professor of Pediatrics and Internal Medicine, Hackensack Meridian School of Medicine, Nutley, NJ
Timothy Ruttan, MD, FACEP
Assistant Professor of Pediatrics, University of Texas at Austin Dell Medical School, Department of Pediatrics, Dell Children’s Medical Center of Central Texas, Pediatric Emergency Medicine, Austin, TX
Antonio Thomas, MD, FAAP
Assistant Professor of Pediatrics, Hackensack School of Medicine; Associate Chief, Pediatric Emergency Medicine, Department of Emergency Medicine, Joseph M. Sanzari Children’s Hospital, Hackensack

Abstract

Children with syndromes often access emergency services and they may present unique challenges for emergency clinicians. This issue reviews 3 pediatric syndromes—spina bifida, Down syndrome, and Marfan syndrome—each of which are associated with unique emergent conditions. Patients with spina bifida have chronic colonization of bacteria in the urine, and antibiotics are not always needed. Children with Down syndrome are at risk for neurologic injury with minor trauma; advanced imaging such as magnetic resonance imaging may be needed in select cases. For children in whom a connective tissue disorder is suspected, aortic dissection and spontaneous pneumothorax must be considered. This issue reviews the pitfalls in interpreting routine testing and discusses the diagnostic and therapeutic approaches helpful in evaluating children with syndromes.

Case Presentations

CASE 1
A 13-month-old girl presents to the ED for evaluation of fever...
  • Her fever began earlier in the day. It was treated successfully with acetaminophen but returned, prompting her parents to bring her to the ED. The girl is up-to-date on her immunizations. She has no past medical or surgical history. She has been tolerating an oral diet of formula and solid food, with no vomiting or diarrhea. She has been having good urine output, with wet diapers.
  • Her vital signs are as follows: temperature, 38.7°C (101.7°F); heart rate, 125 beats/min; respiratory rate, 16 breaths/min; blood pressure, 96/60 mm Hg; and oxygen saturation, 100% on room air. The physical examination is unremarkable except for a hairy patch over her lower back in the midline, estimated at the S1-S2 location.
  • You are concerned about undiagnosed spina bifida and a urinary tract infection. Upon questioning the father, he reports that the child has had 2 prior urinary tract infections that responded to antibiotics.
  • As you leave the room, you ask yourself several questions: What laboratory testing is most appropriate in the evaluation of this patient? Should imaging studies, such as ultrasound, be performed? If the patient has an infection, which antibiotics are most appropriate? For outpatient management, what is appropriate follow-up? Does she need to see a specialist?
CASE 2
A 12-year-old boy with Down syndrome presents with neck pain after falling...
  • The boy was playing with his siblings in their yard earlier that evening when he tripped, striking his head.
  • The boy’s vital signs are as follows: temperature, 37.6°C (99.7°F); heart rate, 90 beats/min; respiratory rate, 18 breaths/min; blood pressure, 100/70 mm Hg; and oxygen saturation, 98% on room air. The primary trauma survey does not demonstrate any significant abnormalities. The secondary trauma survey demonstrates a child in mild pain who has a contusion to his forehead. The patient holds his neck with left-sided torticollis. There are no abnormalities on the cardiac, pulmonary, abdominal, or musculoskeletal examinations. His neurological examination shows progressive spastic quadriparesis and hyperreflexia.
  • You are concerned about a possible cervical spine injury. What additional testing is needed to confirm your suspicions? Are there benefits of certain imaging modalities over others?
CASE 3
A 15-year-old boy presents to the ED with sharp chest pain...
  • The patient’s pain is felt in his back and is exacerbated with each breath. The symptoms started while he was practicing lacrosse. There has been no recent traumatic injury or fever. The patient has vague epigastric abdominal pain and nausea without vomiting or diarrhea. The patient describes heart-racing, but no lightheadedness, dizziness, weakness, or leg pain or swelling.
  • You notice that he wears thick glasses, and he mentions that he has severe nearsightedness. His vital signs are as follows: temperature, 37.6°C (99°F); heart rate, 108 beats/min; respiratory rate, 24 breaths/min; blood pressure, 130/84 mm Hg; and oxygen saturation, 97% on room air. His body mass index is 18 kg/m2. During the examination, he appears to be in discomfort, grabbing at his chest. There are clear and symmetric breath sounds. He has sinus tachycardia, normal S1 and S2 heart sounds, with a diastolic murmur that is loudest at the upper and right sternal borders. His abdomen is soft but, there is mild epigastric tenderness. He has 1+ pulses symmetrically in all extremities.
  • This patient has a clinical presentation concerning for an aortic dissection. Why would a young patient with no prior medical history develop this? What clues exist that might point you toward an underlying diagnosis? What other potentially deadly complications can be associated with this diagnosis?

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