We report the case of a 3-year-old boy with an insidious 10-month history of persistent torticollis and cervical pain, without preceding trauma. The neurological examination revealed preserved cranial nerve function and limb mobility, but marked restriction of cervical mobility and axial hypotonia.

The initial workup (PCR, blood cultures and viral antibody tests) was negative, with normal CT and MRI findings. A subsequent cervical MRI scan suggested an inflammatory/infectious condition, as no destructive bone changes were identified (Fig. 1). Treatment with betamethasone achieved transient symptomatic relief. Testing for rheumatic diseases was negative; however, the follow-up MRI scan revealed progressive signal abnormalities in bone and surrounding soft tissues with marked enhancement, in parallel to the recurrence of symptoms. The fluorodeoxyglucose PET scan showed intense hypermetabolic activity (Fig. 2), and the CT-guided biopsy confirmed the presence of a poorly differentiated chordoma, a malignant notochordal tumor with locally aggressive behavior whose diagnosis is often delayed.1

Figure 1.

Cervical spine MRI.

(A) Sagittal T2 STIR sequence: joint effusions at the C1-C2 level, more pronounced on the right (red arrow), associated with mild edema of the right occipital condyle and lateral mass of C1. (B) These were also observed on the axial fat-saturated T2-weighted sequence. (C) Axial T1-weighted spin-echo image: preserved fat planes, with no evidence of osseous erosion or soft tissue masses. No intravenous contrast was administered.

Figure 2.

FDG-PET showing intense uptake at the right occipital condyle extending to C1-C2, consistent with malignant disease.

The lesion was located at the center of the right occipitocervical junction, involving prevertebral and epidural spaces and encasing the ipsilateral carotid and vertebral arteries (Fig. 3). Surgical resection was deemed unfeasible. Due to disease progression, treatment with nivolumab was initiated, which achieved clinical improvement and allowed performance of carbon-ion radiotherapy.

Figure 3.

Cervical spine MRI.

(A) Sagittal T1-weighted spin-echo image: intermediate to low-signal ill-defined lesion involving the posterior clivus, occipital condyles, and right-sided elements of C1 and C2 (red arrow), including small foci of hyperintensity suggestive of intratumoral hemorrhage or mucinous content. Sagittal T2 STIR (B) and axial T2-weighted spin-echo (C): hyperintensity in the affected vertebrae and adjacent prevertebral soft tissues (red arrow). Coronal (D) and axial (E) post-contrast T1-weighted Dixon water-only images: heterogeneous contrast enhancement. Lesion extending into the right prevertebral and carotid space (dashed ellipse), with epidural involvement at the right lateral aspect of C1, without evidence of spinal cord compression.

Although rare, pediatric chordoma should be considered in the differential diagnosis of torticollis with a progressive course and an unclear etiology, as timely diagnosis may have a significant impact on management and clinical outcomes.1–3