Spina Bifida, Down Syndrome, and Marfan Syndrome: Management Considerations in the ED
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The Child With a Syndrome: Considerations for Management in the Emergency Department

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About This Issue

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. Evidence-based recommendations are provided for the management of these patients. You will learn:

Special considerations for care of children with syndromes in the prehospital setting

How dysfunction of various factors results in increased propensity for urinary tract infections (UTIs) in patients with spina bifida

Guidelines for determining when a child with spina bifida has a UTI that requires treatment with antibiotics

When to consider bladder rupture in patients with spina bifida

Recommendations for which antibiotics should be used to treat patients with spina bifida who have a UTI and for determining the duration of treatment

Why children with Down syndrome are more at risk for atlantoaxial dislocation

When advanced imaging is recommended for evaluation of potential spinal cord injuries in patients with Down syndrome

Cardiopulmonary causes of chest pain (aortic dissection and spontaneous pneumothorax) that must not be missed in patients with Marfan syndrome

Which diagnostic studies are recommended for the evaluation of chest pain in patients with Marfan syndrome

Which patients with Marfan syndrome can be screened/managed as outpatients, and when surgical intervention is indicated

Table of Contents
  1. Abstract
  2. Case Presentations
  3. Introduction
  4. Critical Appraisal of the Literature
  5. Prehospital Care
  6. Spina Bifida
    1. Etiology and Pathophysiology
      1. Bladder Dysfunction
      2. Urinary Tract Infections
      3. Other Complications
    2. Differential Diagnosis
    3. Emergency Department Evaluation
    4. Diagnostic Studies
    5. Treatment
    6. Controversies and Cutting Edge
    7. Disposition
  7. Down Syndrome
    1. Etiology and Pathophysiology
    2. Differential Diagnosis
    3. Emergency Department Evaluation
    4. Diagnostic Studies
    5. Treatment
    6. Controversies and Cutting Edge
    7. Disposition
  8. Marfan Syndrome
    1. Etiology and Pathophysiology
    2. Differential Diagnosis
    3. Emergency Department Evaluation
      1. History
      2. Physical Examination
    4. Diagnostic Studies
      1. Electrocardiogram
      2. Laboratory Studies
      3. Imaging
        • Imaging for Pneumothorax
    5. Treatment
      1. Aortic Dissection
      2. Spontaneous Pneumothorax
    6. Controversies and Cutting Edge
    7. Disposition
  9. Special Considerations
  10. Summary
  11. Time- and Cost-Effective Strategies
  12. Risk Management Pitfalls for Children With Syndromes
  13. Case Conclusions
  14. Clinical Pathway for Management of Patients Presenting With Neurogenic Bladder and a Concern for Urinary Tract Infection
  15. Tables and Figures
    1. Table 1. Functional Status by Location of the Spina Bifida Lesion
    2. Table 2. Requirements for Diagnosis of Urinary Tract Infection
    3. Table 3. Differential Diagnosis of Torticollis in Children
    4. Table 4. Physical Findings in Patients With Marfan Syndrome
    5. Figure 1. The Spectrum of Spina Bifida Occulta
    6. Figure 2. Myelomeningoceles and the Spectrum of Open Spina Bifida
    7. Figure 3. Common Phenotypic Features Observed in Patients With Down Syndrome
    8. Figure 4. Internal Craniocervical Ligaments
    9. Figure 5. Physical Findings in a Child With Torticollis
    10. Figure 6. Schematic Representation of Aortic Dissection Classification
    11. Figure 7. Computed Tomography Scan Demonstrating a Stanford Type A Dissection Involving the Ascending and Descending Aorta
    12. Figure 8. Transesophageal Echocardiogram Demonstrating a Dissection Flap in the Descending Aorta
    13. Figure 9. Lung Findings on Ultrasound
    14. Figure 10. Lung Point Sign on Ultrasound
  16. References

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?

How would you manage these patients? Subscribe for evidence-based best practices and to discover the outcomes.

Clinical Pathway for Management of Patients Presenting With Neurogenic Bladder and a Concern for Urinary Tract Infection

Clinical Pathway for Management of Patients Presenting With Neurogenic Bladder and a Concern for Urinary Tract Infection

Subscribe to access the complete flowchart to guide your clinical decision making.

Tables and Figures

Figure 3. Common Phenotypic Features Observed in Patients With Down Syndrome

Table 1. Functional Status by Location of the Spina Bifida Lesion
Table 2. Requirements for Diagnosis of Urinary Tract Infection
Table 3. Differential Diagnosis of Torticollis in Children
Table 4. Physical Findings in Patients With Marfan Syndrome

Subscribe for full access to all Tables and Figures.

Key References

Following are the most informative references cited in this paper, as determined by the authors.

20. * Joseph DB, Baillie S, Baum MA, et al. Urology. 2019. Accessed March 15, 2021. (Review)

22. * Chaudhry R, Balsara ZR, Madden-Fuentes RJ, et al. Risk factors associated with recurrent urinary tract infection in neurogenic bladders managed by clean intermittent catheterization. Urology. 2017;102:213-218. (Retrospective chart review; 194 patients) DOI: 10.1016/j.urology.2016.12.049

27. * Ortiz TK, Velazquez N, Ding L, et al. Predominant bacteria and patterns of antibiotic susceptibility in urinary tract infection in children with spina bifida. J Pediatr Urol. 2018;14(5):444.e441-444.e448. (Retrospective case match study; 462 patients) DOI: 10.1016/j.jpurol.2018.03.017

31. Ostermaier KK. Down syndrome: clinical features and diagnosis. UpToDate 2019. Accessed March 15, 2021. (Review)

46. * Tashjian VS, Gonzalez NR, Khoo LT. Spine: spinal cord injury, blunt and penetrating, neurogenic and spinal shock. In: Asensio J, Trunkey D, eds. Current Therapy of Trauma and Surgical Care. 2nd ed. Philadelphia: Elsevier; 2016:140-152. Accessed March 15, 2021. (Textbook chapter)

54. * Judge DP, Dietz HC. Marfan’s syndrome. Lancet. 2005;366(9501):1965-1976. (Review) DOI: 10.1016/S0140-6736(05)67789-6

87. Botz B, Gaillard F, et al. Aortic dissection. Accessed March 15, 2021. (Review article, website)

110. *Wright MC, HM. Management of Marfan syndrome and related disorders. UpToDate 2019. Accessed March 15, 2021. (Review)

111. *Braverman AC, Harris KM, Kovacs RJ, et al. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 7: aortic diseases, including Marfan syndrome: a scientific statement from the American Heart Association and American College of Cardiology. Circulation. 2015;132(22):e303-e309. (Scientific statement) DOI: 10.1016/j.jacc.2015.09.039

Subscribe to get the full list of 113 references and see how the authors distilled all of the evidence into a concise, clinically relevant, practical resource.

Keywords: children with syndromes, spina bifida, spina bifida occulta, lipomeningocele, meningocele, myelomeningocele, sepsis, urinary tract infection, UTI, urinary infection, bladder dysfunction, bladder rupture, Down syndrome, Down’s syndrome, trisomy 21, atlantoaxial dislocation, atlantoaxial ligament laxity, subluxation, torticollis, cervical trauma, Marfan syndrome, Marfan’s syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome, connective tissue disease, spontaneous pneumothorax, aortic root dilation, aortic dissection, aortic aneurysm, DeBakey, Stanford, pneumothorax, spontaneous pneumothorax

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Publication Information
Authors

Adam Sigal, MD, FACEP, FAAEM; Shannon Zik, DO; Christopher Valente, MD

Peer Reviewed By

Helio F. Pedro, MD; Timothy Ruttan, MD, FACEP; Antonio Thomas, MD, FAAP

Publication Date

April 2, 2021

CME Expiration Date

May 2, 2024

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.

Pub Med ID: 33779129

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CME Information

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