The patient was a 43-year-old male, involved in a motorcycle accident at 80 mph. He was complaining of sternal, left shoulder and cervico-thoracic spinal pain. A full-body trauma CT was performed, including multiplanar soft tissues and bone window reconstructions.
A CT of the cervical spine revealed a complex anatomical anomaly of the craniocervical junction. The C1 ring was incomplete, with absence of its anterior arch and fusion of the left lateral masses of C1 and C2. The odontoid process of C2 was also dysplastic.
The left occipital condyle was significantly enlarged and extended infero-medially into the spinal canal to form an articulation with the posterior aspect of the odontoid process and left lamina of C2. The enlarged condyle also caused narrowing of the spinal canal and displacement of the spinal cord to the right, as seen on soft tissue windows.
A wide variety of craniocervical junction anatomical variants are described in the literature, comprising but not limited to occipital anomalies (platybasia, basioccipital hypoplasia, occipital condyle hypoplasia, tuberculus paracondylaris and condyles terzius), atlas anomalies (occipital assimilation of the atlas, arch anomalies, ponticulus atlantis) and axis/odontoid anomalies (odontoid hypoplasia, ossiculum terminale, os odontoideum, os avis). [1 - 5]
Embryologically, the craniocervical junction is of mesodermal origin and it appears in the third gestational week. Cells from the embryonic plate condense to either side of the notochord and eventually separate to form segmental clusters called somites. The somites will differentiate into ventromedial sclerotomes and dorsolateral myotomes. The sclerotomes will develop into vertebral bodies, neural arches, ligaments and membranes.
The fourth occipital somite and the cranial part of the first cervical somite form the proatlas, which is the precursor of the craniocervical junction. The first three cervical somites combine to form the first and second cervical sclerotomes, which give rise to the odontoid process and the body of C2. [6]
The abnormality we describe has not been previously published in the literature and it is the result of aberrant development of the proatlas, C1 and C2 sclerotomes. [7]
Other than representing an interesting entity, this can lead to important clinical implications, for example in case of trauma or surgical intervention:
From an imaging point of view, it is important for the Radiologist and Spinal Surgeon to be familiar with common anatomical variants and embryology, making it possible to interpret complex rare anomalies such as the one we described.
Written informed patient consent for publication has been obtained.
Complex anatomical anomaly of the craniocervical junction
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1. Noticeable congenital structural variations in the craniocervical junction, demonstrated by:
Based on the patient’s trauma history and imaging findings, the following diagnoses or differential diagnoses should be considered:
Considering the imaging characteristics, embryological background, and the patient’s clinical status, the most likely diagnosis is:
Complex congenital craniocervical junction malformation (involving anomalies of the Proatlas, C1, and C2), with potential for spinal cord or neural injury post-trauma.
Current imaging does not indicate a definite acute fracture, but follow-up or further imaging (e.g., MRI) is recommended to exclude ligamentous, disc-related, or other soft tissue injuries.
1. Treatment Strategy
2. Rehabilitation / Exercise Prescription
Rehabilitation training should be conducted under the guidance of a trained physician or physical therapist, following a gradual and individualized approach. According to the FITT-VP principle, an example is as follows:
Precautions: For patients with congenital variations in the craniocervical region and potential instability, vigorous neck movements or impactful actions should be strictly avoided during training. Cervical support devices should be used as needed to protect the cervical structures and ensure safety.
This report is based solely on the current imaging and clinical information for preliminary analysis and should not replace an in-person consultation or professional medical advice. If further examinations are required or symptoms change, please seek medical attention promptly and follow the advice of specialists.
Complex anatomical anomaly of the craniocervical junction