Atlantoaxial instability: Difference between revisions

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Atlantoaxial 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.
'''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.<ref name="emedicine" /><ref name="Lacy2019" />


It can be caused by congenital conditions, inflammatory conditions like [[rheumatoid arthritis]], as a result of physical trauma, or infection.<ref>{{Cite journal|date=2019-11-10|title=Atlantoaxial Instability: Background, Pathophysiology, Etiology|url=https://emedicine.medscape.com/article/1265682-overview}}</ref> It has been associated with Down’s Syndrome, Morquio's syndrome<ref>{{Cite journal|last=Li|first=Ming-Feng|last2=Chiu|first2=Pao-Chin|last3=Weng|first3=Mei-Jui|last4=Lai|first4=Ping-Hong|date=2010-12-13|title=Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome|url=https://jamanetwork.com/journals/jamaneurology/fullarticle/801729|journal=Archives of Neurology|language=en|volume=67|issue=12|pages=1530–1530|doi=10.1001/archneurol.2010.308|issn=0003-9942}}</ref>, [[Marfan syndrome]].<ref>{{Cite journal|last=Herzka|first=Andrea|last2=Sponseller|first2=Paul D.|last3=Pyeritz|first3=Reed E.|date=2000-02-15|title=Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases|url=https://journals.lww.com/spinejournal/Abstract/2000/02150/Atlantoaxial_Rotatory_Subluxation_in_Patients_With.22.aspx|journal=Spine|language=en-US|volume=25|issue=4|pages=524|issn=0362-2436}}</ref><ref name=":3">{{Cite journal|last=MacKenzie|first=James MacKintosh|last2=Rankin|first2=Rosslyn|date=2003-12|title=Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome|url=https://journals.lww.com/amjforensicmedicine/Abstract/2003/12000/Sudden_Death_Due_to_Atlantoaxial_Subluxation_in.12.aspx|journal=The American Journal of Forensic Medicine and Pathology|language=en-US|volume=24|issue=4|pages=369|doi=10.1097/01.paf.0000097853.26115.bb|issn=0195-7910}}</ref>, and [[Ehlers-Danlos syndrome]].<ref>{{Cite web|url=https://europepmc.org/article/med/8596160|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Henderson|first=Fraser C.|last2=Austin|first2=Claudiu|last3=Benzel|first3=Edward|last4=Bolognese|first4=Paolo|last5=Ellenbogen|first5=Richard|last6=Francomano|first6=Clair A.|last7=Ireton|first7=Candace|last8=Klinge|first8=Petra|last9=Koby|first9=Myles|date=2017|title=Neurological and spinal manifestations of the Ehlers–Danlos syndromes|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31549|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=175|issue=1|pages=195–211|doi=10.1002/ajmg.c.31549|issn=1552-4876}}</ref><ref>{{Cite journal|last=Castori|first=Marco|last2=Morlino|first2=Silvia|last3=Ghibellini|first3=Giulia|last4=Celletti|first4=Claudia|last5=Camerota|first5=Filippo|last6=Grammatico|first6=Paola|date=2015|title=Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain|url=https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31426|journal=American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en|volume=169|issue=1|pages=84–96|doi=10.1002/ajmg.c.31426|issn=1552-4876}}</ref><ref>{{Cite journal|last=Lane|first=D.|date=2006-08-01|title=Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome|url=https://doi.org/10.1177/0310057X0603400412|journal=Anaesthesia and Intensive Care|language=en|volume=34|issue=4|pages=501–505|doi=10.1177/0310057X0603400412|issn=0310-057X}}</ref><ref>{{Cite journal|last=Dordoni|first=Chiara|last2=Ciaccio|first2=Claudia|last3=Venturini|first3=Marina|last4=Calzavara‐Pinton|first4=Piergiacomo|last5=Ritelli|first5=Marco|last6=Colombi|first6=Marina|date=2016|title=Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review|url=https://www.onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37728|journal=American Journal of Medical Genetics Part A|language=en|volume=170|issue=8|pages=2031–2038|doi=10.1002/ajmg.a.37728|issn=1552-4833}}</ref><ref>{{Cite journal|last=Giunta|first=Cecilia|last2=Baumann|first2=Matthias|last3=Fauth|first3=Christine|last4=Lindert|first4=Uschi|last5=Abdalla|first5=Ebtesam M.|last6=Brady|first6=Angela F.|last7=Collins|first7=James|last8=Dastgir|first8=Jahannaz|last9=Donkervoort|first9=Sandra|date=2018-01|title=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|url=https://www.nature.com/articles/gim201770|journal=Genetics in Medicine|language=en|volume=20|issue=1|pages=42–54|doi=10.1038/gim.2017.70|issn=1530-0366}}</ref><ref>{{Cite web|url=https://europepmc.org/article/med/2387821|title=Europe PMC|website=europepmc.org|access-date=2019-12-10}}</ref><ref>{{Cite journal|last=Galan|first=Enrique|last2=Kousseff|first2=Boris G.|date=1995-04-01|title=Peripheral neuropathy in Ehlers-Danlos syndrome|url=http://www.sciencedirect.com/science/article/pii/088789949500003X|journal=Pediatric Neurology|volume=12|issue=3|pages=242–245|doi=10.1016/0887-8994(95)00003-X|issn=0887-8994}}</ref><ref>{{Cite journal|last=Wills|first=Brian P. D.|last2=Dormans|first2=John P.|date=2006-04|title=Nontraumatic Upper Cervical Spine Instability in Children|url=https://journals.lww.com/jaaos/Citation/2006/04000/Nontraumatic_Upper_Cervical_Spine_Instability_in.5.aspx|journal=JAAOS - Journal of the American Academy of Orthopaedic Surgeons|language=en-US|volume=14|issue=4|pages=233|issn=1067-151X}}</ref>
==Causes ==
Atlantoaxial instability can be caused by hereditary conditions including Marfan Syndrome, neurofibromatosis, connective tissue conditions like [[rheumatoid arthritis]],or [[Ehlers-Danlos Syndrome]]s (EDS), as a result of physical trauma, or infection.<ref name="emedicine"/><ref name="Henderson2020">https://link.springer.com/article/10.1007/s10143-020-01345-9</ref> It has been associated with Down syndrome, Morquio syndrome,<ref name="Li2013">{{Cite journal | last = Li | first = Ming-Feng | last2 = Chiu | first2 = Pao-Chin | last3 = Weng | first3 = Mei-Jui | last4 = Lai | first4 = Ping-Hong | date = 2010-12-13 | title = Atlantoaxial Instability and Cervical Cord Compression in Morquio Syndrome | url =https://jamanetwork.com/journals/jamaneurology/fullarticle/801729 | journal = Archives of Neurology|language=en | volume = 67 | issue = 12 | pages = 1530–1530|doi=10.1001/archneurol.2010.308|issn=0003-9942}}</ref> [[Marfan syndrome]],<ref name=":3">{{Cite journal | last = MacKenzie | first = James MacKintosh | last2 = Rankin | first2 = Rosslyn | date = Dec 2003 | title = Sudden Death Due to Atlantoaxial Subluxation in Marfan Syndrome | url =https://journals.lww.com/amjforensicmedicine/Abstract/2003/12000/Sudden_Death_Due_to_Atlantoaxial_Subluxation_in.12.aspx | journal = The American Journal of Forensic Medicine and Pathology|language=en-US | volume = 24 | issue = 4 | pages = 369|doi=10.1097/01.paf.0000097853.26115.bb|issn=0195-7910|pmc=|pmid=|quote=|access-date=|via=}}</ref> and [[Ehlers-Danlos syndrome]].<ref>{{Cite web | url = https://europepmc.org/article/med/8596160 | title = Europe PMC | website = europepmc.org | access-date = 2019-12-10}}</ref><ref name="Henderson2017">{{Cite journal | last = Henderson | first = Fraser C. | last2 = Austin | first2 = Claudiu | last3 = Benzel | first3 = Edward | last4 = Bolognese | first4 = Paolo | last5 = Ellenbogen | first5 = Richard | last6 = Francomano | first6 = Clair A. | last7 = Ireton | first7 = Candace | last8 = Klinge | first8 = Petra | last9 = Koby | first9 = Myles | date = 2017 | title=Neurological and spinal manifestations of the Ehlers–Danlos syndromes |url =https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31549 | journal = American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en | volume = 175 | issue = 1 | pages = 195–211|doi=10.1002/ajmg.c.31549|issn=1552-4876}}</ref><ref>{{Cite journal | last = Castori | first = Marco | last2 = Morlino | first2 = Silvia | last3 = Ghibellini | first3 = Giulia | last4 = Celletti | first4 = Claudia | last5 = Camerota | first5 = Filippo | last6 = Grammatico | first6 = Paola | date = 2015 | title=Connective tissue, Ehlers–Danlos syndrome(s), and head and cervical pain | url =https://onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.c.31426 | journal = American Journal of Medical Genetics Part C: Seminars in Medical Genetics|language=en | volume = 169 | issue = 1 | pages = 84–96|doi=10.1002/ajmg.c.31426|issn=1552-4876}}</ref><ref>{{Cite journal | last = Lane | first = D. | date = 2006-08-01 | title = Anaesthetic Implications of Vascular Type Ehlers-Danlos Syndrome | url =https://doi.org/10.1177/0310057X0603400412 | journal = Anaesthesia and Intensive Care|language=en | volume = 34 | issue = 4 | pages = 501–505|doi=10.1177/0310057X0603400412|issn=0310-057X}}</ref><ref>{{Cite journal | last = Dordoni | first = Chiara | last2 = Ciaccio | first2 = Claudia | last3 = Venturini | first3 = Marina | last4 = Calzavara‐Pinton | first4 = Piergiacomo | last5 = Ritelli | first5 = Marco | last6 = Colombi | first6 = Marina | date = 2016 | title=Further delineation of FKBP14-related Ehlers–Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review | url =https://www.onlinelibrary.wiley.com/doi/abs/10.1002/ajmg.a.37728 | journal = American Journal of Medical Genetics Part A|language=en | volume = 170 | issue = 8 | pages = 2031–2038|doi=10.1002/ajmg.a.37728|issn=1552-4833}}</ref><ref>{{Cite journal | last = Giunta | first = Cecilia | last2 = Baumann | first2 = Matthias | last3 = Fauth | first3 = Christine | last4 = Lindert | first4 = Uschi | last5 = Abdalla | first5 = Ebtesam M. | last6 = Brady | first6 = Angela F. | last7 = Collins | first7 = James | last8 = Dastgir | first8 = Jahannaz | last9 = Donkervoort | first9 = Sandra | date = Jan 2018 | title = 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 | url = https://www.nature.com/articles/gim201770 | journal = Genetics in Medicine|language=en | volume = 20 | issue = 1 | pages = 42–54|doi=10.1038/gim.2017.70|issn=1530-0366|pmc=|pmid=|quote=|access-date=|via=}}</ref><ref>{{Cite web | url = https://europepmc.org/article/med/2387821 | title = Europe PMC | website = europepmc.org | access-date = 2019-12-10}}</ref><ref>{{Cite journal | last = Galan | first = Enrique | last2 = Kousseff | first2 = Boris G. | date = 1995-04-01 | title = Peripheral neuropathy in Ehlers-Danlos syndrome | url =http://www.sciencedirect.com/science/article/pii/088789949500003X | journal = Pediatric Neurology | volume = 12 | issue = 3 | pages = 242–245|doi=10.1016/0887-8994(95)00003-X|issn=0887-8994}}</ref><ref>{{Cite journal | last = Wills | first = Brian P.D. | last2 = Dormans | first2 = John P. | date = Apr 2006 | title = Nontraumatic Upper Cervical Spine Instability in Children | url =https://journals.lww.com/jaaos/Citation/2006/04000/Nontraumatic_Upper_Cervical_Spine_Instability_in.5.aspx | journal = JAAOS - Journal of the American Academy of Orthopaedic Surgeons|language=en-US | volume = 14 | issue = 4 | pages = 233|issn=1067-151X| doi = | pmc = | pmid = | quote = |access-date=|via=}}</ref><ref>{{Cite journal | last = Herzka | first = Andrea | last2 = Sponseller | first2 = Paul D. | last3 = Pyeritz | first3 = Reed E. | date = 2000-02-15 | title = Atlantoaxial Rotatory Subluxation in Patients With Marfan Syndrome: A Report of Three Cases |url =https://journals.lww.com/spinejournal/Abstract/2000/02150/Atlantoaxial_Rotatory_Subluxation_in_Patients_With.22.aspx | journal = Spine|language=en-US | volume = 25 | issue = 4 | pages = 524|issn=0362-2436}}</ref>


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


In individuals without predisposing conditions, it is thought to be extremely rare.<ref name=":0">{{Cite journal|last=Lacy|first=Jordan|last2=Gillis|first2=Christopher C.|date=2019|title=Atlantoaxial Instability|url=http://www.ncbi.nlm.nih.gov/books/NBK519563/|location=Treasure Island (FL)|publisher=StatPearls Publishing|pmid=30137847}}</ref>
In individuals without predisposing conditions, it is thought to be extremely rare.<ref name="Lacy2019">{{Cite book | last = Lacy | first = Jordan | last2 = Gillis | first2 = Christopher C. | date = 2019 | title=Atlantoaxial Instability | url = http://www.ncbi.nlm.nih.gov/books/NBK519563/|location=Treasure Island (FL)| publisher = StatPearls Publishing|pmid=30137847}}</ref>


== Symptoms ==
== Symptoms ==


** Neck pain<ref name=":0" />
* Neck pain<ref name="Lacy2019" />
** Neck stiffness, torticollis<ref name=":1">{{Cite journal|last=Cohen|first=William I.|date=1998-02-01|title=Atlantoaxial Instability: What's Next?|url=https://jamanetwork.com/journals/jamapediatrics/fullarticle/189216|journal=Archives of Pediatrics & Adolescent Medicine|language=en|volume=152|issue=2|pages=119–122|doi=10.1001/archpedi.152.2.119|issn=1072-4710}}</ref>
* Neck stiffness, torticollis<ref name="Cohen1998">{{Cite journal | last = Cohen | first = William I. | date = 1998-02-01 | title = Atlantoaxial Instability: What's Next? | url = https://jamanetwork.com/journals/jamapediatrics/fullarticle/189216 | journal = Archives of Pediatrics & Adolescent Medicine|language=en | volume = 152 | issue = 2 | pages = 119–122|doi=10.1001/archpedi.152.2.119|issn=1072-4710}}</ref>
** Myelopathy<ref name=":0" />
* Spasticity<ref name="Lacy2019" />
** Spasticity<ref name=":0" />
* Radicular symptoms<ref name="Lacy2019" />
** Radius are symptoms<ref name=":0" />
* Lack of coordination<ref name="Lacy2019" />
** Lack of coordination<ref name=":0" />
* Clumsiness<ref name="Lacy2019" />
** Clumsiness<ref name=":0" />
* Gait changes, difficulty with gait<ref name="Lacy2019" /><ref name="Cohen1998" />
** Gait changes, difficulty with gait<ref name=":0" /><ref name=":1" />
* Sensory deficits<ref name="Lacy2019" />
** Sensory deficits<ref name=":0" />
* Neurogenic bladder<ref name="Lacy2019" />
** Neurogenic bladder<ref name=":0" />
* Clonus, hyperreflexia<ref name="Lacy2019" /><ref name="Cohen1998" />
** Spasticity, clonus, hyperreflexia<ref name=":0" /><ref name=":1" />
* Paraplegia, quadriplegia<ref name="Lacy2019" />
** Paraplegia, quadriplegia<ref name=":0" />
* Muscle weakness, which is not a constant feature<ref name="Henderson2017" />
** Muscle weakness<ref name=":2">{{Cite web|url=https://www.orthobullets.com/spine/2049/atlantoaxial-instability|title=Atlantoaxial Instability - Spine - Orthobullets|website=www.orthobullets.com|access-date=2019-12-10}}</ref>
* Blurred vision<ref name=":3" />
** Decreased hand dexterity<ref name=":2" />
* Occipital headache<ref name=":3" />
** Blurred vision<ref name=":3" />
Symptoms can often be exacerbated by rotation of the neck.
** Occipital headache<ref name=":3" />


== Risk factors and causes ==
== Risk factors and causes ==
Line 31: Line 31:


=== Rheumatoid arthritis ===
=== Rheumatoid arthritis ===
Chronic inflammation can cause laxity and stretching of the transverse ligament, the formation of a pannus, as well as bone erosion.<ref name=":0" />
Chronic inflammation can cause laxity and stretching of the transverse ligament, the formation of a pannus, as well as bone erosion.<ref name="Lacy2019" />


=== Grisel’s syndrome ===
=== Grisel’s syndrome ===
Grisel’s syndrome occurs following inflammation of the soft tissue as a consequence of surgery or infection,<ref name=":4" /> frequently an upper respiratory infection. It is primarily seen in patients ages 5-12 but can also be seen in adults.<ref name=":4">{{Cite journal|date=2019-11-10|title=Atlantoaxial Instability: Background, Pathophysiology, Etiology|url=https://emedicine.medscape.com/article/1265682-overview#a3}}</ref> It usually presents with torticollis, neck pain, neck tilt, and stiffness.<ref name=":5">{{Cite journal|last=Fernández Cornejo|first=Víctor J.|last2=Martínez-Lage|first2=Juan F.|last3=Piqueras|first3=Claudio|last4=Gelabert|first4=Amparo|last5=Poza|first5=Máximo|date=2003-06-01|title=Inflammatory atlanto-axial subluxation (Grisel's syndrome) in children: clinical diagnosis and management|url=https://doi.org/10.1007/s00381-003-0749-6|journal=Child's Nervous System|language=en|volume=19|issue=5|pages=342–347|doi=10.1007/s00381-003-0749-6|issn=1433-0350}}</ref> It can often be treated with conservative therapies such as physical therapy, traction, immobilization, antiinflammatories and treatment of any underlying infection.<ref name=":5" />
Grisel’s syndrome is AAI that occurs following inflammation of the soft tissue as a consequence of surgery or infection,<ref name="emedicine" /> frequently an upper respiratory infection. It is primarily seen in patients ages 5-12 but can also be seen in adults.<ref name="emedicine">{{Cite web | date = 2019-11-10 | title = Atlantoaxial Instability: Background, Pathophysiology, Etiology | url = https://emedicine.medscape.com/article/1265682-overview#a3}}</ref> It usually presents with torticollis, neck pain, neck tilt, and stiffness.<ref name="Fernandez">{{Cite journal | last = Fernández Cornejo | first = Víctor J. | last2 = Martínez-Lage | first2 = Juan F. | last3 = Piqueras | first3 = Claudio | last4 = Gelabert | first4 = Amparo | last5 = Poza | first5 = Máximo | date = 2003-06-01 | title = Inflammatory atlanto-axial subluxation (Grisel's syndrome) in children: clinical diagnosis and management | url = https://doi.org/10.1007/s00381-003-0749-6 | journal = Child's Nervous System|language=en | volume = 19 | issue = 5 | pages = 342–347|doi=10.1007/s00381-003-0749-6|issn=1433-0350}}</ref> It can often be treated with conservative therapies such as physical therapy, traction, immobilization, anti-inflammatories and treatment of any underlying infection.<ref name="Fernandez" />
 
A handful of cases of concomitant non-traumatic CCI and AAI following upper respiratory infections have also been documented.<ref name="Washington1998">{{Cite journal | title = Nontraumatic Atlanto-occipital and Atlantoaxial Rotatory Subluxation: Case Report | url = https://academic.oup.com/neurosurgery/article/43/1/162/2856810 | journal = Neurosurgery | date = 1998-07-01|issn=0148-396X | pages = 162–164 | volume = 43 | issue = 1|doi=10.1097/00006123-199807000-00110|language=en | first = Shehan | last = Hettiaratchy | first2 = Chou | last2 = Ning | first3 = Ian | last3 = Sabin}}</ref><ref>{{Cite journal | title = Non-Traumatic Atlanto-Occipital and Atlanto-Axial Dislocation: A Case Report | url = https://journals.lww.com/jbjsjournal/Citation/1959/41020/Non_Traumatic_Atlanto_Occipital_and_Atlanto_Axial.15.aspx | journal = JBJS | date = Mar 1959|issn=0021-9355 | pages = 341–344 | volume = 41 | issue = 2|language=en-US| first = Eleby R. | last = Washington | last2 = | first2 = | doi = | pmc = | pmid = | quote = |access-date=|via=}}</ref>


== Co-morbid conditions ==
== Co-morbid conditions ==
AAI can cause vertebrobasilar insufficiency.<ref>{{Cite journal|last=Vinchon|first=Matthieu|last2=Assaker|first2=Richard|last3=Leclerc|first3=Xavier|last4=Lejeune|first4=Jean-Paul|date=1995-04-01|title=Vertebrobasilar Insufficiency Resulting from Traumatic Atlantoaxial InstabilityCase Report|url=https://academic.oup.com/neurosurgery/article/36/4/839/2753933|journal=Neurosurgery|language=en|volume=36|issue=4|pages=839–841|doi=10.1227/00006123-199504000-00027|issn=0148-396X}}</ref>
AAI can cause vertebrobasilar insufficiency.<ref name="Vinchon">{{Cite journal | last = Vinchon | first = Matthieu | last2 = Assaker | first2 = Richard | last3 = Leclerc | first3 = Xavier | last4 = Lejeune | first4 = Jean-Paul | date = 1995-04-01 | title = Vertebrobasilar Insufficiency Resulting from Traumatic Atlantoaxial InstabilityCase Report | url = https://academic.oup.com/neurosurgery/article/36/4/839/2753933 | journal = Neurosurgery|language=en | volume = 36 | issue = 4 | pages = 839–841|doi=10.1227/00006123-199504000-00027|issn=0148-396X}}</ref>


== Diagnosis ==
== Diagnosis ==
AAI is defined as 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. The ADI is the distance between the odontoid process and the posterior border of the anterior arch of the atlas.
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 ==
== Treatment==


== See also ==
== See also ==
* [[Craniocervical instability]]
* [[Craniocervical instability]]
Learn more
 
== Learn more ==


== References ==
== References ==
<references />
{{Reflist}}
 
[[Category:Diagnoses]]

Latest revision as of 17:55, August 14, 2023

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.
  3. https://link.springer.com/article/10.1007/s10143-020-01345-9
  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:10.1097/01.paf.0000097853.26115.bb. ISSN 0195-7910.
  6. "Europe PMC". europepmc.org. 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". europepmc.org. 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.