Atlantoaxial instability

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Atlantoaxial instability or Atlanto-axial instability (AAI) is characterized by excessive movement at the junction between the atlas (C1) and axis (C2) as a result of either a bone or ligament abnormality.[1][2]

Causes[edit | edit source]

Atlantoaxial instability can be caused by hereditary conditions including Marfan Syndrome, neurofibromatosis, connective tissue conditions like rheumatoid arthritis,or Ehlers-Danlos Syndromes (EDS), as a result of physical trauma, or infection.[1][3] It has been associated with Down syndrome, Morquio syndrome,[4] Marfan syndrome,[5] and Ehlers-Danlos syndrome.[6][7][8][9][10][11][12][13][14][15]

AAI often co-occurs with craniocervical instability (CCI).

In individuals without predisposing conditions, it is thought to be extremely rare.[2]

Symptoms[edit | edit source]

  • Neck pain[2]
  • Neck stiffness, torticollis[16]
  • Spasticity[2]
  • Radicular symptoms[2]
  • Lack of coordination[2]
  • Clumsiness[2]
  • Gait changes, difficulty with gait[2][16]
  • Sensory deficits[2]
  • Neurogenic bladder[2]
  • Clonus, hyperreflexia[2][16]
  • Paraplegia, quadriplegia[2]
  • Muscle weakness, which is not a constant feature[7]
  • Blurred vision[5]
  • Occipital headache[5]

Symptoms can often be exacerbated by rotation of the neck.

Risk factors and causes[edit | edit source]

Congenital causes[edit | edit source]

Rheumatoid arthritis[edit | edit source]

Chronic inflammation can cause laxity and stretching of the transverse ligament, the formation of a pannus, as well as bone erosion.[2]

Grisel’s syndrome[edit | edit source]

Grisel’s syndrome is AAI that occurs following inflammation of the soft tissue as a consequence of surgery or infection,[1] frequently an upper respiratory infection. It is primarily seen in patients ages 5-12 but can also be seen in adults.[1] It usually presents with torticollis, neck pain, neck tilt, and stiffness.[17] It can often be treated with conservative therapies such as physical therapy, traction, immobilization, anti-inflammatories and treatment of any underlying infection.[17]

A handful of cases of concomitant non-traumatic CCI and AAI following upper respiratory infections have also been documented.[18][19]

Co-morbid conditions[edit | edit source]

AAI can cause vertebrobasilar insufficiency.[20]

Diagnosis[edit | edit source]

AAI diagnosis is based on a neurological exam, reported symptoms, and radiological measurements, generally a CTSCAN with rotation. An atlantodental (or atlantodens or atlas-dens) interval (ADI) of greater than 3 mm in adults and of greater than 5 mm in children as measured on plain radiography is considered indicative of AAI. The ADI is the distance between the odontoid process and the posterior border of the anterior arch of the atlas. An abnormal degreeof rotation of the atlas (C1) on C2 has also been determined to indicate instability.

Treatment[edit | edit source]

See also[edit | edit source]

Learn more[edit | edit source]

References[edit | edit source]

  1. 1.0 1.1 1.2 1.3 "Atlantoaxial Instability: Background, Pathophysiology, Etiology". November 10, 2019.
  2. 2.00 2.01 2.02 2.03 2.04 2.05 2.06 2.07 2.08 2.09 2.10 2.11 2.12 Lacy, Jordan; Gillis, Christopher C. (2019). Atlantoaxial Instability. Treasure Island (FL): StatPearls Publishing. PMID 30137847.
  4. Li, Ming-Feng; Chiu, Pao-Chin; Weng, Mei-Jui; Lai, Ping-Hong (December 13, 2010). "Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome". Archives of Neurology. 67 (12): 1530–1530. doi:10.1001/archneurol.2010.308. ISSN 0003-9942.
  5. 5.0 5.1 5.2 MacKenzie, James MacKintosh; Rankin, Rosslyn (December 2003). "Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome". The American Journal of Forensic Medicine and Pathology. 24 (4): 369. doi:10.1097/ ISSN 0195-7910.
  6. "Europe PMC". Retrieved December 10, 2019.
  7. 7.0 7.1 Henderson, Fraser C.; Austin, Claudiu; Benzel, Edward; Bolognese, Paolo; Ellenbogen, Richard; Francomano, Clair A.; Ireton, Candace; Klinge, Petra; Koby, Myles (2017). "Neurological and spinal manifestations of the Ehlers–Danlos syndromes". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 175 (1): 195–211. doi:10.1002/ajmg.c.31549. ISSN 1552-4876.
  8. Castori, Marco; Morlino, Silvia; Ghibellini, Giulia; Celletti, Claudia; Camerota, Filippo; Grammatico, Paola (2015). "Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain". American Journal of Medical Genetics Part C: Seminars in Medical Genetics. 169 (1): 84–96. doi:10.1002/ajmg.c.31426. ISSN 1552-4876.
  9. Lane, D. (August 1, 2006). "Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome". Anaesthesia and Intensive Care. 34 (4): 501–505. doi:10.1177/0310057X0603400412. ISSN 0310-057X.
  10. Dordoni, Chiara; Ciaccio, Claudia; Venturini, Marina; Calzavara‐Pinton, Piergiacomo; Ritelli, Marco; Colombi, Marina (2016). "Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review". American Journal of Medical Genetics Part A. 170 (8): 2031–2038. doi:10.1002/ajmg.a.37728. ISSN 1552-4833.
  11. Giunta, Cecilia; Baumann, Matthias; Fauth, Christine; Lindert, Uschi; Abdalla, Ebtesam M.; Brady, Angela F.; Collins, James; Dastgir, Jahannaz; Donkervoort, Sandra (January 2018). "A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14 : expansion of the clinical and mutational spectrum and description of the natural history". Genetics in Medicine. 20 (1): 42–54. doi:10.1038/gim.2017.70. ISSN 1530-0366.
  12. "Europe PMC". Retrieved December 10, 2019.
  13. Galan, Enrique; Kousseff, Boris G. (April 1, 1995). "Peripheral neuropathy in Ehlers-Danlos syndrome". Pediatric Neurology. 12 (3): 242–245. doi:10.1016/0887-8994(95)00003-X. ISSN 0887-8994.
  14. Wills, Brian P.D.; Dormans, John P. (April 2006). "Nontraumatic Upper Cervical Spine Instability in Children". JAAOS - Journal of the American Academy of Orthopaedic Surgeons. 14 (4): 233. ISSN 1067-151X.
  15. Herzka, Andrea; Sponseller, Paul D.; Pyeritz, Reed E. (February 15, 2000). "Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases". Spine. 25 (4): 524. ISSN 0362-2436.
  16. 16.0 16.1 16.2 Cohen, William I. (February 1, 1998). "Atlantoaxial Instability: What's Next?". Archives of Pediatrics & Adolescent Medicine. 152 (2): 119–122. doi:10.1001/archpedi.152.2.119. ISSN 1072-4710.
  17. 17.0 17.1 Fernández Cornejo, Víctor J.; Martínez-Lage, Juan F.; Piqueras, Claudio; Gelabert, Amparo; Poza, Máximo (June 1, 2003). "Inflammatory atlanto-axial subluxation (Grisel's syndrome) in children: clinical diagnosis and management". Child's Nervous System. 19 (5): 342–347. doi:10.1007/s00381-003-0749-6. ISSN 1433-0350.
  18. Hettiaratchy, Shehan; Ning, Chou; Sabin, Ian (July 1, 1998). "Nontraumatic Atlanto-occipital and Atlantoaxial Rotatory Subluxation: Case Report". Neurosurgery. 43 (1): 162–164. doi:10.1097/00006123-199807000-00110. ISSN 0148-396X.
  19. Washington, Eleby R. (March 1959). "Non-Traumatic Atlanto-Occipital and Atlanto-Axial Dislocation: A Case Report". JBJS. 41 (2): 341–344. ISSN 0021-9355.
  20. Vinchon, Matthieu; Assaker, Richard; Leclerc, Xavier; Lejeune, Jean-Paul (April 1, 1995). "Vertebrobasilar Insufficiency Resulting from Traumatic Atlantoaxial InstabilityCase Report". Neurosurgery. 36 (4): 839–841. doi:10.1227/00006123-199504000-00027. ISSN 0148-396X.