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.
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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
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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
Adam Sigal, MD, FACEP, FAAEM; Shannon Zik, DO; Christopher Valente, MD
Helio F. Pedro, MD; Timothy Ruttan, MD, FACEP; Antonio Thomas, MD, FAAP
April 2, 2021
May 1, 2024
4 AMA PRA Category 1 Credits™, 4 ACEP Category I Credits, 4 AAP Prescribed Credits, 4 AOA Category 2-A or 2-B Credits.
Date of Original Release: April 1, 2021. Date of most recent review: March 15, 2021. Termination date: April 1, 2024.
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