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Successful recovery from cardiac arrest due to atlantoaxial subluxation in Down syndrome: a case report

Abstract

Introduction

Down syndrome is the most common chromosomal abnormality associated with intellectual impairments. Unexpected deaths are common with this disease. There are certain difficulties in clarifying the cause of death because the manifestations may be quite diverse and involve many organ systems. Atlantoaxial subluxation is a dangerous complication of Down syndrome, as it may lead to cervical cord-medullary compression.

Case presentation

Herein, we present a case of Down syndrome in a patient who completely recovered from cardiac arrest due to atlantoaxial subluxation. The neck was immobilized during post-cardiac arrest care, and the patient underwent surgery after 14 days. The patient could walk independently and was discharged 3 months later. At the last follow-up 5 years after surgery, the patient’s general condition was good.

Discussion

Physicians should be aware that atlantoaxial instability can cause cardiac arrest in patients with genetic syndromes.

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Fig. 1: Electrocardiogram recorded by an automated external defibrillator.
Fig. 2: CT scan of the neck demonstrating atlantoaxial subluxation.
Fig. 3: MRI of the neck.
Fig. 4: Extension and flexion lateral cervical spine radiographs demonstrating atlantoaxial instability.
Fig. 5

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Data availability

All data supporting the findings of this study are available within the article.

References

  1. Bull MJ. Down syndrome. N Engl J Med. 2020;382:2344–52. https://doi.org/10.1056/NEJMra1706537.

    Article  PubMed  Google Scholar 

  2. Hankinson TC, Anderson RC. Craniovertebral junction abnormalities in Down syndrome. Neurosurgery. 2010;66:A32–8. https://doi.org/10.1227/01.NEU.0000365803.22786.F0.

    Article  Google Scholar 

  3. Onodera R, Sakamoto R, Taniguchi Y, Hirai S, Matsubayashi Y, Kato S, et al. Congenital atlanto-occipital dislocation in a patient with Down syndrome: a case report. Skeletal Radiol. 2023;52:1785–9. https://doi.org/10.1007/s00256-023-04297-5.

    Article  PubMed  PubMed Central  Google Scholar 

  4. Byard RW. Forensic issues in Down syndrome fatalities. J Forensic Leg Med. 2007;14:475–81. https://doi.org/10.1016/j.jflm.2007.01.001.

    Article  PubMed  Google Scholar 

  5. Scorza CA, Scorza FA, Arida RM, Cavalheiro EA. Sudden unexpected death in people with down syndrome and epilepsy: another piece in this complicated puzzle. Clinics. 2011;66:719–20. https://doi.org/10.1590/s1807-59322011000500001.

    Article  PubMed  PubMed Central  Google Scholar 

  6. Lehmann KG, Lane JG, Piepmeier JM, Batsford WP. Cardiovascular abnormalities accompanying acute spinal cord injury in humans: incidence, time course and severity. J Am Coll Cardiol. 1987;10:46–52. https://doi.org/10.1016/s0735-1097(87)80158-4.

    Article  CAS  PubMed  Google Scholar 

  7. Teasell RW, Arnold JM, Krassioukov A, Delaney GA. Cardiovascular consequences of loss of supraspinal control of the sympathetic nervous system after spinal cord injury. Arch Phys Med Rehabil. 2000;81:506–16. https://doi.org/10.1053/mr.2000.3848.

    Article  CAS  PubMed  Google Scholar 

  8. McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. Review of cervical spine anomalies in genetic syndromes. Spine. 2012;37:E269–77. https://doi.org/10.1097/BRS.0b013e31823b3ded.

    Article  PubMed  Google Scholar 

  9. Shibao Y, Koda M, Nakayama K, Asada T, Sato K, Kono M, et al. A case of cardiac arrest during C1 laminectomy for irreducible atlantoaxial subluxation. Case Rep Orthop. 2021;6691426. https://doi.org/10.1155/2021/6691426.

  10. Capone GT, Chicoine B, Bulova P, Stephens M, Hart S, Crissman B, et al. Co-occurring medical conditions in adults with Down syndrome: a systematic review toward the development of health care guidelines. Am J Med Genet A. 2018;176:116–33. https://doi.org/10.1002/ajmg.a.38512.

    Article  PubMed  Google Scholar 

  11. Selby KA, Newton RW, Gupta S, Hunt L. Clinical predictors and radiological reliability in atlantoaxial subluxation in Down’s syndrome. Arch Dis Child. 1991;66:876–8. https://doi.org/10.1136/adc.66.7.876.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. Yaszemski MJ, Shepler TR. Sudden death from cord compression associated with atlanto-axial instability in rheumatoid arthritis. A case report. Spine. 1990;15:338–41.

    Article  CAS  PubMed  Google Scholar 

  13. Yamaguchi R, Makino Y, Inokuchi G, Hattori S, Chiba F, Torimitsu S, et al. Fatal atlantoaxial dislocation due to an odontoid synchondrosis fracture in a child with chromosome 9 abnormality: a case report. J Forensic Leg Med. 2019;61:92–6. https://doi.org/10.1016/j.jflm.2018.11.011.

    Article  PubMed  Google Scholar 

  14. Meyer C, Eysel P, Stein G. Traumatic atlantoaxial and fracture-related dislocation. Biomed Res Int. 2019;5297950. https://doi.org/10.1155/2019/5297950.

  15. Kageyama H, Kakumoto K, Yasuoka H, Arimoto H, Ohara Y. Cardiopulmonary arrest induced by atlantoaxial dislocation with subarachnoid hemorrhage: a case report and review of the literature. Spinal Cord Ser Cases. 2019;5:100. https://doi.org/10.1038/s41394-019-0247-z.

    Article  PubMed  PubMed Central  Google Scholar 

  16. Panchal AR, Bartos JA, Cabañas JG, Donnino MW, Drennan IR, Hirsch KG, et al. Part 3: Adult basic and advanced life support: 2020 American Heart Association Guidelines for cardiopulmonary resuscitation and emergency cardiovascular care. Circulation. 2020;142:S366–468. https://doi.org/10.1161/CIR.0000000000000916.

    Article  PubMed  Google Scholar 

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Acknowledgements

We would like to thank Editage (www.editage.jp) for English language editing.

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Contributions

HI was responsible for data collection, data analysis, and writing of the manuscript. YH, HK, MI, and YK contributed to the study conception and provided feedback on the manuscript. HO supervised the project.

Corresponding author

Correspondence to Hiroshi Imamura.

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The authors declare no competing interests.

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Imamura, H., Hamano, Y., Kamijo, H. et al. Successful recovery from cardiac arrest due to atlantoaxial subluxation in Down syndrome: a case report. Spinal Cord Ser Cases 10, 37 (2024). https://doi.org/10.1038/s41394-024-00649-y

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