Case Report

Absence of the Posterior Element of C1 and C2 Along with Mild Wedge Shape in Body of C3: Case Report

Abstract

Due to the wide variety of cervical vertebral congenital anomalies, knowledge of their types and related clinical conditions can prove to be helpful for physicians and surgeons in the diagnosis and treatment of patients. The aim of this study is to report on a rare case of unstable cervical vertebral congenital anomaly in which the patient had a defect in the body of the C3 vertebra in addition to defects in the posterior arch of C1 and posterior element of C2. This type of anomaly has not been reported so far in the literature. To reduce the patient’s related neurological disorders, our treatment choice for this patient was occipitocervical fusion (OCF) surgery. At the 3-year postoperative follow-up, all sensory and motor problems related to this anomaly affecting the patient's upper and lower limbs and causing shoulder and neck pain were eliminated. In this rare type of anomaly, OCF surgery seems to be an effective choice in relieving the patient's neurological symptoms.

1. Sharifi G, Lotfinia M, Rahmanzade R, Lotfinia AA, Rahmanzadeh R, Omidbeigi M, et al. Congenital Absence of the Posterior Element of C1, C2, and C3 Along with Bilateral Absence of C4 Pedicles: Case Report and Review of the Literature. World neurosurgery. 2018;111:395-401.
2. Rusconi A, Maestretti G. Segmentation failure of the posterior elements at the cervical spine and cervicothoracic junction: report of three cases. Surgical and radiologic anatomy : SRA. 2018;40(12):1379-82.
3. Standring S. Gray's Anatomy E-Book: The Anatomical Basis of Clinical Practice: Elsevier Health Sciences; 2020.
4. Kwon JK, Kim MS, Lee GJ. The incidence and clinical implications of congenital defects of atlantal arch. Journal of Korean Neurosurgical Society. 2009;46(6):522.
5. Khanna R, Smith Z, Dlouhy B, Dahdaleh N. Complete absence of the posterior arch of C1: Case report. Journal of craniovertebral junction & spine. 2014;5(4):176.
6. Oh YM, Eun JP, Koh EJ, Choi HY. Posterior arch defects of the cervical spine: a comparison between absent pedicle syndrome and spondylolysis. The spine journal : official journal of the North American Spine Society. 2009;9(7):e1-5.
7. Gopinathan NR, Viswanathan VK, Crawford AH. Cervical spine evaluation in pediatric trauma: a review and an update of current concepts. Indian journal of orthopaedics. 2018;52:489-500.
8. Manaligod JM, Bauman NM, Menezes AH, Smith RJ. Cervical vertebral anomalies in patients with anomalies of the head and neck. The Annals of otology, rhinology, and laryngology. 1999;108(10):925-33.
9. Klimo Jr P, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurgery Clinics of North America. 2007;18(3):463-78.
10. Offiah CE, Day E. The craniocervical junction: embryology, anatomy, biomechanics and imaging in blunt trauma. Insights into imaging. 2017;8(1):29-47.
11. Akobo S, Rizk E, Loukas M, Chapman JR, Oskouian RJ, Tubbs RS. The odontoid process: a comprehensive review of its anatomy, embryology, and variations. Child's Nervous System. 2015;31(11):2025-34.
12. Karwacki GM, Schneider J. Normal ossification patterns of atlas and axis: a CT study. American journal of neuroradiology. 2012;33(10):1882-7.
13. T O’Brien Sr W, Shen P, Lee P. The dens: normal development, developmental variants and anomalies, and traumatic injuries. Journal of clinical imaging science. 2015;5.
14. Adisen SD, Adisen Mz Dds P, Ozdiler Fe Dds P. The evaluation of the relationship between cervical vertebral anomalies with skeletal malocclusion types and upper airway dimensions. Cranio : the journal of craniomandibular practice. 2020;38(3):149-57.
15. Faruqui S, Fida M, Shaikh A. Cervical vertebral anomalies in skeletal malocclusions: a cross-sectional study on orthodontic patients at the Aga Khan University Hospital, Pakistan. Indian journal of dental research : official publication of Indian Society for Dental Research. 2014;25(4):480-4.
16. Yun DJ, Hwang BW, Kim DJ, Lee SH. An Upper and Middle Cervical Spine Posterior Arch Defect Leading to Myelopathy and a Thoracic Spine Posterior Arch Defect. World neurosurgery. 2016;93:489.e1-5.
17. Tracy M, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clinical Orthopaedics and Related Research®. 2004;424:183-90.
18. Wiener M, Martinez S, Forsberg D. Congenital absence of a cervical spine pedicle: clinical and radiologic findings. AJR American journal of roentgenology. 1990;155(5):1037-41.
19. HANSON EC, SHOOK JE, WIESSEMAN GJ, WOOD VE. Congenital pedicle defects of the axis vertebra: report of a case. Spine. 1990;15(3):236-7.
20. Shah S, Dalvie S, Rai RR. Congenital malformed posterior arch of atlas with fusion defect: a case of developmental canal stenosis causing cervical myelopathy. Journal of spine surgery (Hong Kong). 2017;3(3):489-97.
21. Selvam NP, Hansen M, Kashtwari D. Incidental findings of posterior arch defects of the atlas in orthodontic patients: A case series. American Journal of Orthodontics and Dentofacial Orthopedics. 2020;158(1):35-9.
22. Giuffra V, Montella A, Tognotti E, Milanese M, Bandiera P. Posterior Arch Defect of the Atlas Associated to Absence of Costal Element of Foramen Transversarium from 16th-Century Sardinia (Italy). Spine. 2016;41(2):182-4.
23. Guenkel S, Schlaepfer S, Gordic S, Wanner GA, Simmen HP, Werner CM. Incidence and variants of posterior arch defects of the atlas vertebra. Radiology research and practice. 2013;2013:957280.
24. Park JS, Eun JP, Lee HO. Anteroposterior spondyloschisis of atlas with bilateral cleft defect of posterior arch: a case report. Spine. 2011;36(2):E144-7.
25. Sanchis-Gimeno JA, Blanco-Perez E, Aparicio L, Martinez-Soriano F, Martinez-Sanjuan V. Difficulties in distinguishing between an atlas fracture and a congenital posterior atlas arch defect in postmortem analysis. Forensic science international. 2014;242:e1-e5.
26. Srivastava SK, Nemade PS, Aggarwal RA, Bhoale SK. Congenital absence of posterior elements of C2 vertebra with atlanto-axial dislocation and basilar invagination: a case report and review of literature. Asian spine journal. 2016;10(1):170.
27. Hosalkar HS, Sankar WN, Wills BP, Goebel J, Dormans JP, Drummond DS. Congenital osseous anomalies of the upper cervical spine. JBJS. 2008;90(2):337-48.
28. Yu W, Lin Q, Zhou X, Shao H, Sun P. Reconsideration of the relevance of mild wedge or short vertebral height deformities across a broad age distribution. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 2014;25(11):2609-15.
29. Wang F, Dong Z, Li YP, Miao DC, Wang LF, Shen Y. Wedge-shaped vertebrae is a risk factor for symptomatic upper lumbar disc herniation. Journal of orthopaedic surgery and research. 2019;14(1):265.
30. Xu JX, Yang SD, Wang BL, Yang DL, Ding WY, Shen Y. Correlative analyses of isolated upper lumbar disc herniation and adjacent wedge-shaped vertebrae. International journal of clinical and experimental medicine. 2015;8(1):1150-5.
31. Guille JT, Sherk HH. Congenital osseous anomalies of the upper and lower cervical spine in children. JBJS. 2002;84(2):277-88.
32. Song K-C, Cho K-S, Lee S-B. Congenital defect of the posterior arch of cervical spine: report of three cases and review of the current literature. Journal of Korean Neurosurgical Society. 2010;48(3):294.
33. Burke SM, Huhta TA, Mackel CE, Riesenburger RI. Occipital condyle fracture in a patient with occipitalisation of the atlas. BMJ case reports. 2015;2015.
34. Goel A, Kulkarni AG. Mobile and reducible atlantoaxial dislocation in presence of occipitalized atlas: report on treatment of eight cases by direct lateral mass plate and screw fixation. Spine. 2004;29(22):E520-E3.
35. Kukreja S, Ambekar S, Sin AH, Nanda A. Occipitocervical Fusion Surgery: Review of Operative Techniques and Results. Journal of neurological surgery Part B, Skull base. 2015;76(5):331-9.
36. Deutsch H, Haid Jr RW, Rodts Jr GE, Mummaneni PV. Occipitocervical fixation: long-term results. Spine. 2005;30(5):530-5.
37. Amarante MA, Shrensel JA, Tomei KL, Carmel PW, Gandhi CD. Management of urological dysfunction in pediatric patients with spinal dysraphism: review of the literature. Neurosurgical focus. 2012;33(4):E4.
38. Moritoki Y, Kojima Y, Kamisawa H, Mizuno K, Kohri K, Hayashi Y. Neuropathic bladder caused by caudal regression syndrome without any other neurogenic symptoms. Case reports in medicine. 2012;2012.

1. Sharifi G, Lotfinia M, Rahmanzade R, Lotfinia AA, Rahmanzadeh R, Omidbeigi M, et al. Congenital Absence of the Posterior Element of C1, C2, and C3 Along with Bilateral Absence of C4 Pedicles: Case Report and Review of the Literature. World neurosurgery. 2018;111:395-401.
2. Rusconi A, Maestretti G. Segmentation failure of the posterior elements at the cervical spine and cervicothoracic junction: report of three cases. Surgical and radiologic anatomy : SRA. 2018;40(12):1379-82.
3. Standring S. Gray's Anatomy E-Book: The Anatomical Basis of Clinical Practice: Elsevier Health Sciences; 2020.
4. Kwon JK, Kim MS, Lee GJ. The incidence and clinical implications of congenital defects of atlantal arch. Journal of Korean Neurosurgical Society. 2009;46(6):522.
5. Khanna R, Smith Z, Dlouhy B, Dahdaleh N. Complete absence of the posterior arch of C1: Case report. Journal of craniovertebral junction & spine. 2014;5(4):176.
6. Oh YM, Eun JP, Koh EJ, Choi HY. Posterior arch defects of the cervical spine: a comparison between absent pedicle syndrome and spondylolysis. The spine journal : official journal of the North American Spine Society. 2009;9(7):e1-5.
7. Gopinathan NR, Viswanathan VK, Crawford AH. Cervical spine evaluation in pediatric trauma: a review and an update of current concepts. Indian journal of orthopaedics. 2018;52:489-500.
8. Manaligod JM, Bauman NM, Menezes AH, Smith RJ. Cervical vertebral anomalies in patients with anomalies of the head and neck. The Annals of otology, rhinology, and laryngology. 1999;108(10):925-33.
9. Klimo Jr P, Rao G, Brockmeyer D. Congenital anomalies of the cervical spine. Neurosurgery Clinics of North America. 2007;18(3):463-78.
10. Offiah CE, Day E. The craniocervical junction: embryology, anatomy, biomechanics and imaging in blunt trauma. Insights into imaging. 2017;8(1):29-47.
11. Akobo S, Rizk E, Loukas M, Chapman JR, Oskouian RJ, Tubbs RS. The odontoid process: a comprehensive review of its anatomy, embryology, and variations. Child's Nervous System. 2015;31(11):2025-34.
12. Karwacki GM, Schneider J. Normal ossification patterns of atlas and axis: a CT study. American journal of neuroradiology. 2012;33(10):1882-7.
13. T O’Brien Sr W, Shen P, Lee P. The dens: normal development, developmental variants and anomalies, and traumatic injuries. Journal of clinical imaging science. 2015;5.
14. Adisen SD, Adisen Mz Dds P, Ozdiler Fe Dds P. The evaluation of the relationship between cervical vertebral anomalies with skeletal malocclusion types and upper airway dimensions. Cranio : the journal of craniomandibular practice. 2020;38(3):149-57.
15. Faruqui S, Fida M, Shaikh A. Cervical vertebral anomalies in skeletal malocclusions: a cross-sectional study on orthodontic patients at the Aga Khan University Hospital, Pakistan. Indian journal of dental research : official publication of Indian Society for Dental Research. 2014;25(4):480-4.
16. Yun DJ, Hwang BW, Kim DJ, Lee SH. An Upper and Middle Cervical Spine Posterior Arch Defect Leading to Myelopathy and a Thoracic Spine Posterior Arch Defect. World neurosurgery. 2016;93:489.e1-5.
17. Tracy M, Dormans JP, Kusumi K. Klippel-Feil syndrome: clinical features and current understanding of etiology. Clinical Orthopaedics and Related Research®. 2004;424:183-90.
18. Wiener M, Martinez S, Forsberg D. Congenital absence of a cervical spine pedicle: clinical and radiologic findings. AJR American journal of roentgenology. 1990;155(5):1037-41.
19. HANSON EC, SHOOK JE, WIESSEMAN GJ, WOOD VE. Congenital pedicle defects of the axis vertebra: report of a case. Spine. 1990;15(3):236-7.
20. Shah S, Dalvie S, Rai RR. Congenital malformed posterior arch of atlas with fusion defect: a case of developmental canal stenosis causing cervical myelopathy. Journal of spine surgery (Hong Kong). 2017;3(3):489-97.
21. Selvam NP, Hansen M, Kashtwari D. Incidental findings of posterior arch defects of the atlas in orthodontic patients: A case series. American Journal of Orthodontics and Dentofacial Orthopedics. 2020;158(1):35-9.
22. Giuffra V, Montella A, Tognotti E, Milanese M, Bandiera P. Posterior Arch Defect of the Atlas Associated to Absence of Costal Element of Foramen Transversarium from 16th-Century Sardinia (Italy). Spine. 2016;41(2):182-4.
23. Guenkel S, Schlaepfer S, Gordic S, Wanner GA, Simmen HP, Werner CM. Incidence and variants of posterior arch defects of the atlas vertebra. Radiology research and practice. 2013;2013:957280.
24. Park JS, Eun JP, Lee HO. Anteroposterior spondyloschisis of atlas with bilateral cleft defect of posterior arch: a case report. Spine. 2011;36(2):E144-7.
25. Sanchis-Gimeno JA, Blanco-Perez E, Aparicio L, Martinez-Soriano F, Martinez-Sanjuan V. Difficulties in distinguishing between an atlas fracture and a congenital posterior atlas arch defect in postmortem analysis. Forensic science international. 2014;242:e1-e5.
26. Srivastava SK, Nemade PS, Aggarwal RA, Bhoale SK. Congenital absence of posterior elements of C2 vertebra with atlanto-axial dislocation and basilar invagination: a case report and review of literature. Asian spine journal. 2016;10(1):170.
27. Hosalkar HS, Sankar WN, Wills BP, Goebel J, Dormans JP, Drummond DS. Congenital osseous anomalies of the upper cervical spine. JBJS. 2008;90(2):337-48.
28. Yu W, Lin Q, Zhou X, Shao H, Sun P. Reconsideration of the relevance of mild wedge or short vertebral height deformities across a broad age distribution. Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA. 2014;25(11):2609-15.
29. Wang F, Dong Z, Li YP, Miao DC, Wang LF, Shen Y. Wedge-shaped vertebrae is a risk factor for symptomatic upper lumbar disc herniation. Journal of orthopaedic surgery and research. 2019;14(1):265.
30. Xu JX, Yang SD, Wang BL, Yang DL, Ding WY, Shen Y. Correlative analyses of isolated upper lumbar disc herniation and adjacent wedge-shaped vertebrae. International journal of clinical and experimental medicine. 2015;8(1):1150-5.
31. Guille JT, Sherk HH. Congenital osseous anomalies of the upper and lower cervical spine in children. JBJS. 2002;84(2):277-88.
32. Song K-C, Cho K-S, Lee S-B. Congenital defect of the posterior arch of cervical spine: report of three cases and review of the current literature. Journal of Korean Neurosurgical Society. 2010;48(3):294.
33. Burke SM, Huhta TA, Mackel CE, Riesenburger RI. Occipital condyle fracture in a patient with occipitalisation of the atlas. BMJ case reports. 2015;2015.
34. Goel A, Kulkarni AG. Mobile and reducible atlantoaxial dislocation in presence of occipitalized atlas: report on treatment of eight cases by direct lateral mass plate and screw fixation. Spine. 2004;29(22):E520-E3.
35. Kukreja S, Ambekar S, Sin AH, Nanda A. Occipitocervical Fusion Surgery: Review of Operative Techniques and Results. Journal of neurological surgery Part B, Skull base. 2015;76(5):331-9.
36. Deutsch H, Haid Jr RW, Rodts Jr GE, Mummaneni PV. Occipitocervical fixation: long-term results. Spine. 2005;30(5):530-5.
37. Amarante MA, Shrensel JA, Tomei KL, Carmel PW, Gandhi CD. Management of urological dysfunction in pediatric patients with spinal dysraphism: review of the literature. Neurosurgical focus. 2012;33(4):E4.
38. Moritoki Y, Kojima Y, Kamisawa H, Mizuno K, Kohri K, Hayashi Y. Neuropathic bladder caused by caudal regression syndrome without any other neurogenic symptoms. Case reports in medicine. 2012;2012.
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IssueVol 61 No 10 (2023) QRcode
SectionCase Report(s)
DOI https://doi.org/10.18502/acta.v61i10.15666
Keywords
Cervical vertebrae Cervical spine Occipitocervical fusion Atlas Axis

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1.
Golchini E, Abdi M, Torkmandi H, Pourrahimi A. Absence of the Posterior Element of C1 and C2 Along with Mild Wedge Shape in Body of C3: Case Report. Acta Med Iran. 2024;61(10):639-645.