Atlantoaxial dislocation due to os odontoideum in patients with Down’s syndrome: literature review and case reports

  • Olga M. SergeenkoEmail author
  • Konstantin A. Dyachkov
  • Sergey O. Ryabykh
  • Alexander V. Burtsev
  • Alexander V. Gubin
Case-Based Update



To clarify etiology, clinical features, and diagnostic and treatment options of atlantoaxial dislocation (AAD) due to os odontoideum (OsO) in patients with Down’s syndrome (DS).


We described and analyzed three clinical cases of AAD due to OsO in DS patients and reviewed descriptions of similar cases in the scientific sources.


According to literature review, more than 80% of DS patients with odontoid ossicles had atlantoaxial instability (AAI). AAI in DS patients with OsO is more often manifested in childhood and adolescence, rarely in adults when ligament relaxation is reduced. Some patients had acute clinical manifestation after a minor trauma without any precursors; in some of the cases, neurological deterioration increased during several years. We found that the earlier surgical treatment of AAD due to OsO in DS patients carries the higher recovery potential.


Most patients with DS and OsO had AAI. The method of appropriate treatment in such cases is a posterior screw fixation. Preoperative halo traction and posterior fusion have proved to be a very useful tool in the treatment of AAD due to OsO in DS patients. Even if irreducibility of the AAD established preoperatively, it should not be an absolute indication for anterior decompression. In such cases, an attempt to reduce the AAD should be made under general anesthesia during posterior fixation.


Os odontoideum Down’s syndrome Atlantoaxial instability 


Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


  1. 1.
    Aleem AW, Thuet ED, Padberg AM, Wallendorf M, Luhmann SJ (2015) Spinal cord monitoring data in pediatric spinal deformity patients with spinal cord pathology. Spine Deform 3:88–94. CrossRefPubMedGoogle Scholar
  2. 2.
    Aryan HE, Newman CB, Nottmeier EW, Acosta FL Jr, Wang VY, Ames CP (2008) Stabilization of the atlantoaxial complex via C-1 lateral mass and C-2 pedicle screw fixation in a multicenter clinical experience in 102 patients: modification of the Harms and Goel techniques. J Neurosurg Spine 8:222–229. CrossRefPubMedGoogle Scholar
  3. 3.
    Brockmeyer D (1999) Down syndrome and craniovertebral instability. Topic review and treatment recommendations. Pediatr Neurosurg 31:71–77. CrossRefPubMedGoogle Scholar
  4. 4.
    Brockmeyer DL, Apfelbaum RI (1999) A new occipitocervical fusion construct in pediatric patients with occipitocervical instability. Technical note. J Neurosurg 90:271–275PubMedGoogle Scholar
  5. 5.
    Brockmeyer D, Apfelbaum R, Tippets R, Walker M, Carey L (1995) Pediatric cervical spine instrumentation using screw fixation. Pediatr Neurosurg 22:147–157CrossRefGoogle Scholar
  6. 6.
    Browd S, Healy LJ, Dobie G, Johnson JT 3rd, Jones GM, Rodriguez LF, Brockmeyer DL (2006) Morphometric and qualitative analysis of congenital occipitocervical instability in children: implications for patients with Down syndrome. J Neurosurg 105:50–54. CrossRefPubMedGoogle Scholar
  7. 7.
    Browd SR, McIntyre JS, Brockmeyer D (2008) Failed age-dependent maturation of the occipital condyle in patients with congenital occipitoatlantal instability and Down syndrome: a preliminary analysis. J Neurosurg Pediatr 2:359–364. CrossRefPubMedGoogle Scholar
  8. 8.
    Caird MS, Wills BP, Dormans JP (2006) Down syndrome in children: the role of the orthopaedic surgeon. J Am Acad Orthop Surg 14:610–619CrossRefGoogle Scholar
  9. 9.
    Carfi A, Liperoti R, Fusco D, Giovannini S, Brandi V, Vetrano DL, Meloni E, Mascia D, Villani ER, Manes Gravina E, Bernabei R, Onder G (2017) Bone mineral density in adults with Down syndrome. Osteoporos Int 28:2929–2934. CrossRefPubMedGoogle Scholar
  10. 10.
    Center J, Beange H, McElduff A (1998) People with mental retardation have an increased prevalence of osteoporosis: a population study. Am J Ment Retard 103:19–28.<0019:pwmrha>;2 CrossRefPubMedGoogle Scholar
  11. 11.
    Chutkan NB, King AG, Harris MB (1997) Odontoid fractures: evaluation and management. J Am Acad Orthop Surg 5:199–204CrossRefGoogle Scholar
  12. 12.
    Constantoyannis C, Konstantinou D, Maraziotis T, Dimopoulos PA (2004) Atlantoaxial instability and myelopathy due to an ossiculum terminale persistens. Med Sci Monit 10:Cs63–Cs67PubMedGoogle Scholar
  13. 13.
    Crockard HA, Stevens JM (1995) Craniovertebral junction anomalies in inherited disorders: part of the syndrome or caused by the disorder? Eur J Pediatr 154:504–512CrossRefGoogle Scholar
  14. 14.
    Cros T, Linares R, Castro A, Mansilla F (2000) A radiological study of the cervical alterations in Down syndrome. New findings on computerized tomography and three dimensional reconstructions. Rev Neurol 30:1101–1107PubMedGoogle Scholar
  15. 15.
    de Carvalho M, Swash M (2014) Neurologic complications of craniovertebral dislocation. Handb Clin Neurol 119:435–448CrossRefGoogle Scholar
  16. 16.
    Dedlow ER, Siddiqi S, Fillipps DJ, Kelly MN, Nackashi JA, Tuli SY (2013) Symptomatic atlantoaxial instability in an adolescent with trisomy 21 (Down’s syndrome). Clin Pediatr (Phila) 52:633–638. CrossRefGoogle Scholar
  17. 17.
    Desai R, Stevenson CB, Crawford AH, Durrani AA, Mangano FT (2010) C-1 lateral mass screw fixation in children with atlantoaxial instability: case series and technical report. J Spinal Disord Tech 23:474–479. CrossRefPubMedGoogle Scholar
  18. 18.
    Dlouhy BJ, Dahdaleh NS, Menezes AH (2015) Evolution of transoral approaches, endoscopic endonasal approaches, and reduction strategies for treatment of craniovertebral junction pathology: a treatment algorithm update. Neurosurg Focus 38:E8. CrossRefPubMedGoogle Scholar
  19. 19.
    Dlouhy BJ, Policeni BA, Menezes AH (2017) Reduction of atlantoaxial dislocation prevented by pathological position of the transverse ligament in fixed, irreducible os odontoideum: operative illustrations and radiographic correlates in 41 patients. J Neurosurg Spine 1–9. PubMedGoogle Scholar
  20. 20.
    Dlouhy BJ, Policeni BA, Menezes AH (2017) Reduction of atlantoaxial dislocation prevented by pathological position of the transverse ligament in fixed, irreducible os odontoideum: operative illustrations and radiographic correlates in 41 patients. J Neurosurg Spine 27:20–28. CrossRefPubMedGoogle Scholar
  21. 21.
    Doyle JS, Lauerman WC, Wood KB, Krause DR (1996) Complications and long-term outcome of upper cervical spine arthrodesis in patients with Down syndrome. Spine 21:1223–1231CrossRefGoogle Scholar
  22. 22.
    French HG, Burke SW, Roberts JM, Johnston CE 2nd, Whitecloud T, Edmunds JO (1987) Upper cervical ossicles in Down syndrome. J Pediatr Orthop 7:69–71CrossRefGoogle Scholar
  23. 23.
    Gluf WM, Brockmeyer DL (2005) Atlantoaxial transarticular screw fixation: a review of surgical indications, fusion rate, complications, and lessons learned in 67 pediatric patients. J Neurosurg Spine 2:164–169. CrossRefPubMedGoogle Scholar
  24. 24.
    Gonzalez-Aguero A, Vicente-Rodriguez G, Gomez-Cabello A, Casajus JA (2013) Cortical and trabecular bone at the radius and tibia in male and female adolescents with Down syndrome: a peripheral quantitative computed tomography (pQCT) study. Osteoporos Int 24:1035–1044. CrossRefPubMedGoogle Scholar
  25. 25.
    Grob D, Crisco JJ 3rd, Panjabi MM, Wang P, Dvorak J (1992) Biomechanical evaluation of four different posterior atlantoaxial fixation techniques. Spine 17:480–490CrossRefGoogle Scholar
  26. 26.
    Hajek PD, Lipka J, Hartline P, Saha S, Albright JA (1993) Biomechanical study of C1-C2 posterior arthrodesis techniques. Spine 18:173–177CrossRefGoogle Scholar
  27. 27.
    Jea A, Taylor MD, Dirks PB, Kulkarni AV, Rutka JT, Drake JM (2007) Incorporation of C-1 lateral mass screws in occipitocervical and atlantoaxial fusions for children 8 years of age or younger. Technical note. J Neurosurg 107:178–183. CrossRefPubMedGoogle Scholar
  28. 28.
    Johal J, Loukas M, Fisahn C, Oskouian RJ, Tubbs RS (2016) Bergmann’s ossicle (ossiculum terminale persistens): a brief review and differentiation from other findings of the odontoid process. Childs Nerv Syst 32:1603–1606. CrossRefPubMedGoogle Scholar
  29. 29.
    Kirlew KA, Hathout GM, Reiter SD, Gold RH (1993) Os odontoideum in identical twins: perspectives on etiology. Skelet Radiol 22:525–527CrossRefGoogle Scholar
  30. 30.
    Klimo P Jr, Kan P, Rao G, Apfelbaum R, Brockmeyer D (2008) Os odontoideum: presentation, diagnosis, and treatment in a series of 78 patients. J Neurosurg Spine 9:332–342. CrossRefPubMedGoogle Scholar
  31. 31.
    Liang CL, Lui CC, Lu K, Lee TC, Chen HJ (2001) Atlantoaxial stability in ossiculum terminale. Case report. J Neurosurg 95:119–121CrossRefGoogle Scholar
  32. 32.
    Magrini S, Pasquini E, Mazzatenta D, Mascari C, Galassi E, Frank G (2008) Endoscopic endonasal odontoidectomy in a patient affected by Down syndrome: technical case report. Neurosurgery 63:E373–E374; discussion E374. CrossRefPubMedGoogle Scholar
  33. 33.
    Masuda K, Iwasaki M, Seichi A, Kitagawa T, Nakajima S, Kawaguchi H, Ohnishi I, Nakamura K (2003) Cervical myelopathy in an adult due to atlantoaxial subluxation associated with Down syndrome: a case study. J Orthop Sci 8:227–231. CrossRefPubMedGoogle Scholar
  34. 34.
    Matute-Llorente A, Gonzalez-Aguero A, Gomez-Cabello A, Vicente-Rodriguez G, Casajus JA (2013) Decreased levels of physical activity in adolescents with down syndrome are related with low bone mineral density: a cross-sectional study. BMC Endocr Disord 13:22. CrossRefPubMedPubMedCentralGoogle Scholar
  35. 35.
    McKelvey KD, Fowler TW, Akel NS, Kelsay JA, Gaddy D, Wenger GR, Suva LJ (2013) Low bone turnover and low bone density in a cohort of adults with Down syndrome. Osteoporos Int 24:1333–1338. CrossRefPubMedGoogle Scholar
  36. 36.
    Menezes A (1996) Congenital and aquired abnormalities of the craniovertebral junction. Neurol Surg 1035–1089Google Scholar
  37. 37.
    Menezes AH, Ryken TC (1992) Craniovertebral abnormalities in Down’s syndrome. Pediatr Neurosurg 18:24–33CrossRefGoogle Scholar
  38. 38.
    Menezes AH, VanGilder JC (1988) Transoral-transpharyngeal approach to the anterior craniocervical junction. Ten-year experience with 72 patients. J Neurosurg 69:895–903. CrossRefPubMedGoogle Scholar
  39. 39.
    Morgan MK, Onofrio BM, Bender CE (1989) Familial os odontoideum: case report. J Neurosurg 70:636–639CrossRefGoogle Scholar
  40. 40.
    Nader-Sepahi A, Casey AT, Hayward R, Crockard HA, Thompson D (2005) Symptomatic atlantoaxial instability in Down syndrome. J Neurosurg 103:231–237. CrossRefPubMedGoogle Scholar
  41. 41.
    Orhan EK, Kiraç LB, Dikmen PY, Matur Z, Ertaş M, Öge AE, Deymeer F, Yazici J, Baslo MB (2018) Electromyography in Pediatric Population. Noro Psikiyatr Ars 55:36–39. CrossRefPubMedPubMedCentralGoogle Scholar
  42. 42.
    Salunke P, Sharma M, Sodhi HB, Mukherjee KK, Khandelwal NK (2011) Congenital atlantoaxial dislocation: a dynamic process and role of facets in irreducibility. J Neurosurg Spine 15:678–685. CrossRefPubMedGoogle Scholar
  43. 43.
    Sankar WN, Wills BP, Dormans JP, Drummond DS (2006) Os odontoideum revisited: the case for a multifactorial etiology. Spine 31:979–984. CrossRefPubMedGoogle Scholar
  44. 44.
    Segal LS, Drummond DS, Zanotti RM, Ecker ML, Mubarak SJ (1991) Complications of posterior arthrodesis of the cervical spine in patients who have Down syndrome. J Bone Joint Surg Am 73:1547–1554CrossRefGoogle Scholar
  45. 45.
    Sepulveda D, Allison DB, Gomez JE, Kreibich K, Brown RA, Pierson RN Jr, Heymsfield SB (1995) Low spinal and pelvic bone mineral density among individuals with Down syndrome. Am J Ment Retard 100:109–114PubMedGoogle Scholar
  46. 46.
    Sutterlin CE 3rd, Bianchi JR, Kunz DN, Zdeblick TA, Johnson WM, Rapoff AJ (2001) Biomechanical evaluation of occipitocervical fixation devices. J Spinal Disord 14:185–192CrossRefGoogle Scholar
  47. 47.
    Taggard DA, Menezes AH, Ryken TC (2000) Treatment of Down syndrome-associated craniovertebral junction abnormalities. J Neurosurg 93:205–213PubMedGoogle Scholar
  48. 48.
    Visocchi M, Di Rocco C (2014) Os odontoideum syndrome: pathogenesis, clinical patterns and indication for surgical strategies in childhood. Adv Tech Stand Neurosurg 40:273–293. CrossRefPubMedGoogle Scholar
  49. 49.
    Visocchi M, Fernandez E, Ciampini A, Di Rocco C (2009) Reducible and irreducible os odontoideum in childhood treated with posterior wiring, instrumentation and fusion. Past or present? Acta Neurochir 151:1265–1274CrossRefGoogle Scholar
  50. 50.
    Visocchi M, Pietrini D, Tufo T, Fernandez E, Di Rocco C (2009) Pre-operative irreducible C1–C2 dislocations: intra-operative reduction and posterior fixation. The “always posterior strategy”. Acta Neurochir 151:551–560CrossRefGoogle Scholar
  51. 51.
    Visocchi M, Della Pepa GM, Doglietto F, Esposito G, La Rocca G, Massimi L (2011) Video-assisted microsurgical transoral approach to the craniovertebral junction: personal experience in childhood. Childs Nerv Syst 27:825–831CrossRefGoogle Scholar
  52. 52.
    Visocchi M, Signorelli F, Liao C, Rigante M, Paludetti G, Barbagallo G, Olivi A (2017) Endoscopic endonasal approach for craniovertebral junction pathologic conditions: myth and truth in clinical series and personal experience. World Neurosurg 101:122–129CrossRefGoogle Scholar
  53. 53.
    Viswanathan A, Whitehead WE, Luerssen TG, Illner A, Jea A (2009) “Orthotopic” ossiculum terminale persistens and atlantoaxial instability in a child less than 12 years of age: a case report and review of the literature. Cases J 2:8530. CrossRefPubMedPubMedCentralGoogle Scholar
  54. 54.
    Wolff J (1986) Das Gesetz der Transformation der Knochen. Berlin: Hirchwild, 1892; Wolff, J. The law of bone remodeling, translated by P. Maquet and R. Furlong. Berlin: SpringerGoogle Scholar
  55. 55.
    Wright NM, Lauryssen C (1998) Vertebral artery injury in C1-2 transarticular screw fixation: results of a survey of the AANS/CNS section on disorders of the spine and peripheral nerves. American Association of Neurological Surgeons/Congress of Neurological Surgeons. J Neurosurg 88:634–640. CrossRefPubMedGoogle Scholar
  56. 56.
    Yochum TR (2004) Essentials of skeletal radiology, vol 1. Lippincott Williams & WilkinsGoogle Scholar
  57. 57.
    Zhao D, Wang S, Passias PG, Wang C (2015) Craniocervical instability in the setting of os odontoideum: assessment of cause, presentation, and surgical outcomes in a series of 279 cases. Neurosurgery 76:514–521. CrossRefPubMedGoogle Scholar

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© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Russian Ilizarov Scientific CenterKurganRussia

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