|Year : 2016 | Volume
| Issue : 2 | Page : 115-117
Congenital defects of C1 arches and odontoid process in a child with Down's syndrome: A case presentation
Catherine Hatzantonis, Samiul Muquit, Luigi Aurelio Nasto, Hossein Mehdian
Centre of Spinal Studies, Queen's Medical Centre, Nottingham, United Kingdom
|Date of Web Publication||5-May-2016|
Centre for Spinal Studies and Surgery, Queen's Medical Centre, D Floor West, Block, Derby Road, Nottingham NG72UH
Source of Support: None, Conflict of Interest: None
| Abstract|| |
We present the case of a 2-year-old child with Down's syndrome who presented to our unit with torticollis. Imaging studies revealed the rare occurrence of anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation. We managed her conservatively for 3 years without neurological deficits or worsening of atlantoaxial subluxation. We discuss the rare occurrences of anterior and posterior arch defects of the atlas, the radiological presentations of axis defects in patients, and the occurrence of atlantoaxial instability in patients with Down's syndrome. Management options with consideration to surgery in asymptomatic and symptomatic patients are also discussed.
Keywords: C1, congenital anomalies, Down′s syndrome
|How to cite this article:|
Hatzantonis C, Muquit S, Nasto LA, Mehdian H. Congenital defects of C1 arches and odontoid process in a child with Down's syndrome: A case presentation. J Craniovert Jun Spine 2016;7:115-7
|How to cite this URL:|
Hatzantonis C, Muquit S, Nasto LA, Mehdian H. Congenital defects of C1 arches and odontoid process in a child with Down's syndrome: A case presentation. J Craniovert Jun Spine [serial online] 2016 [cited 2018 Nov 19];7:115-7. Available from: http://www.jcvjs.com/text.asp?2016/7/2/115/181877
| Introduction|| |
Congenital abnormalities of the atlas and odontoid process are rare occurrences, but arch defects in children with Down's Syndrome predisposes them to an increased risk of atlantoaxial instability. In this article we present a three year-follow up of a child who initially presented at the age of two with symptoms of torticollis and neck pain.
| Case report|| |
A 2-year-old girl with Down's syndrome presented to our clinic with symptoms of acute torticollis. Clinical examination demonstrated no neurological deficit. Initial investigation included x-rays with flexion and extension views and these revealed a 2.5 mm atlantoaxial subluxation and absent odontoid process [Figure 1]. Further imaging demonstrated a partially ossified odontoid process and absent ossification centers in the anterior and posterior arches of C1 with midline defects [Figure 2] and [Figrue 3]. A further cleft was also noted within the left C1 lamina. The patient was conservatively managed for the past 3 years with regular follow-up. The child's parents were also advised that the child possesses an unstable cervical spine and therefore, restriction of certain physical activities is necessary.
|Figure 1: Composite of cervical spine lateral x-rays in flexion (left) and extension (right). This patient presented with torticollis. Noted is the atlantoaxial subluxation and absent odontoid process|
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|Figure 2: 3D reconstruction of CT imaging of patient in rotational position. Most prominent in the imaging is the absent ossification center in the anterior arch of C1 with midline defects|
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|Figure 3: 3D reconstruction of CT imaging of patient from posterior view. Noted is the absent ossifi cation center in the posterior arch of C1 and largely absent odontoid process of C2|
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At the most recent review, the child had no other symptoms other than a mild torticollis. She continues to be managed conservatively. Imaging at the age of 5 years shows no further ossification or bone growth to have taken place in the C1 arches or of the odontoid process. If instability increases, an occiput to C3 posterior fixation would be an alternative treatment option.
C1 and C2 odontoid peg development
The C1 vertebra is commonly formed from three centers of ossification. One ossification center was found in the anterior arch and two were found in the posterior arch (forming the lateral masses and the posterior arch). , The anterior arch is fused between the ages of 5 years and 8 years and the posterior arch is fused between the ages of 3 years and 5 years. 
In contrast to the C1 vertebrae, the C2 odontoid peg has four ossification centers present at birth: One in each neural arch, one in the body, and one in the odontoid. Between the ages of 3 years and 6 years, a secondary ossification center appears and fuses with the remaining dens by the age of 12 years.  Congenital anomalies of the odontoid process are rare and can be identified as os odontoideum, ossiculum terminale, aplasia-hypoplasia, and duplication of the dens. 
Anomalies of atlas
Cadaveric and imaging studies have verified that the anomalies in the posterior arch range between 4% and 5%, whereas congenital anomalies of the anterior arch are rare with 0.1% prevalence in the population. ,,
Currarino et al. described five types of posterior arch of atlas defects based on the extent of the absence of the posterior arch. These types include type A: Failure of posterior midline fusion of the two hemiarches; type B: Unilateral cleft; type C: Bilateral cleft, type D: Absence of the posterior arch with a posterior tubercle present; and type E: Absence of the entire arch including the posterior tubercle.  Of these posterior defects, type A was the most common, with 90% of the defects attributing to this type. 
Anterior arch defects, although rare, are also associated with posterior arch abnormalities. In a study by Guenkel et al., only two of 1,069 patients examined with computed tomography (CT) scans of the cervical spine were found to possess anterior with posterior arch defects.  In contrast, a study by Menezes, 2008 identified 12 out of 54 patients with anterior and posterior arch defects.  One study by Goel et al., identified 70 out of 1,200 patients with bifid anterior and posterior arches of atlas.  A case study by Choi et al. and Petre et al. reported anterior and posterior arch defects in patients presenting with traumatic injury, leading to neurological injury. , A case by Thavarajah and McKenna reported congenital absence solely of the anterior arch of the atlas in a patient with no neurological deficit. 
In the study by Goel et al., out of 70 total patients with anterior and posterior arch defects, 57 patients had bifid (two segment) anterior arch defects, 11 patients had trifid (three segment) defects, and two patients had quadrifid (four segment) defects. 
Atlantoaxial subluxation is a common occurrence in 15-20% of the patients with Down's syndrome, with 1% of subluxation being symptomatic.  In a study by Elliott et al. (1988), atlantoaxial instability was present in no children out of 11 under the age of 5 years, in five children out of 30 (17%) between the ages of 5 years and 9 years, and in two children out of 26 (8%) between the ages of 10 years and 14 years. In addition to atlantoaxial instability, odontoid hypoplasia was found in 15 out of 90 (17%) patients under the age of 19 years with Down's syndrome and in 14 out of 71 (20%) patients over the age of 19 years with Down's syndrome. 
Patients presenting with asymptomatic atlantoaxial subluxation are managed conservatively in clinics with follow-up radiographs of the cervical spine in flexion and neutral position. Children with increased risk of atlantoaxial instability are restricted from contact sports and activities such as diving, trampolining, and gymnastics. Dimar et al. (2012) discussed asymptomatic patients with an atlantoaxial interval between 4.5 mm and 10 mm to be managed conservatively with restriction from high-risk activity.  Menezes (2008) suggests that atlantoaxial instability with sagittal plane excursion of more than 8 mm requires surgical attention.  In contrast, Goel et al. (2015) managed all patients with partially and/or complete atlantoaxial instability with surgical intervention.  In children with symptomatic instability, younger children are opted to have autologous bone graft fusion while instrumented fusion is preferred in older children. Incorporation of the occiput is advised in conditions of atlantoaxial instability, congenital abnormality of the atlas, and/or after transoral odontoidectomy. th
| Conclusion|| |
Congenital abnormalities of the atlas are uncommon but posterior arch defects have a higher prevalence than anterior arch defects. Children with Down's syndrome are at an increased risk of atlantoaxial instability. Imaging using radiographs, CT scans, and magnetic resonance imaging (MRI) images are essential in the diagnosis and monitoring of complications. Children with asymptomatic atlantoaxial instability are conservatively managed with close follow-up in clinics and parent education of avoidance of vigorous sports activities.
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Conflicts of interest
The authors declare that they have no conflict of interest
| References|| |
Junewick JJ, Chin MS, Meesa IR, Boynton SJ, Luttenton CR. Ossification patterns of the atlas vertebra. AJR Am J Roentgenol 2011;197:1229-34.
Elmalky MM, Elsayed S, Arealis G, Mehdian H. Congenital C1 deficiency: Grand round presentation. Eur Spine J 2013;22:1223-6.
Bajaj M, Jangid H, Vats AK, Meena ML. Case report: Congenital absence of the dens. Indian J Radiol Imaging 2010;20:109-11.
Guenkel S, Schlaepfer S, Gordic S, Wanner GA, Simmen HP, Werner CM. Incidence and variants of posterior arch defects of the atlas vertebra. Radiol Res Pract 2013;2013:957280.
Piatt JH Jr, Grisson LE. Developmental anatomy of the atlas and axis in childhood by computed tomography. J Neurosurg Pediatr 2011;8:235-43.
Petraglia AL, Childs SM, Walker CT, Hogg J, Bailes JE, Lively MW. Bipartite atlas in a collegiate football player - Not necessarily a contraindication for return-to-play: A case report and review of the literature. Surg Neurol Int 2012;3:126.
Currarino G, Rollins N, Diehl JT. Congenital defects of the posterior arch of the atlas: A report of seven cases including an affected mother and son. AJNR Am J Neuroradiol 1994;15:249-54.
Menezes AH. Specific entities affecting the craniocervical region: Down's syndrome. Childs Nerv Syst 2008;24:1165-8.
Goel A, Nadkarni T, Shah A, Ramdasi R, Patni N. Bifid anterior and posterior arches of atlas: Surgical implication and analysis of 70 cases. Neurosurgery 2015;77:296-306.
Choi JW, Jeong JH, Moon SM, Hwang HS. Congenital cleft of the anterior arch and partial aplasia of the posterior arch of the C1. J Korean Neurosurg Soc 2011;49:178-81.
Petre BM, Karp JE, Riley LH 3 rd
. Athletic cervical spine injury in the setting of fusion failure of the anterior and posterior atlas. Orthopedics 2012;35: e14490-52.
Thavarajah D, McKenna P. Congenital absence of the anterior arch of the atlas: A normal variant. Ann R Coll Surg Engl 2012;94:e208-9.
Nader-Sepahi A, Casey AT, Hayward R, Crockard HA, Thompson D. Symptomatic atlantoaxial instability in Down syndrome. J Neurosurg 2005;103(Suppl):231-7.
Elliot S, Morton RE, Whitelaw RA. Atlantoaxial instability and abnormalities of the odontoid in Down's syndrome. Arch Dis Child 1988;63:1484-9.
Dimar JR, Carreon LY. Spinal deformity in Down syndrome. Spine Deform 2012(preview):75e84.
[Figure 1], [Figure 2], [Figrue 3]