Spontaneous Torticollis: An Unexpectable Cause

Background: Spontaneous acquired torticollis is a frequent pathology in the Pediatric Emergency Department(PED). In most cases it results from muscle contracture due to poor posture or following upper airway infections that cause cervical lymphadenitis. However, with persistent torticollis, the exclusion of other etiologies becomes imperative.

Case Report: A 10-year- old girl was admitted to the PED with a history of sudden onset neck pain and lateralization of the head to the left. There was no history of trauma or infection. She was previously medicated with non-steroidal anti-inflammatory drugs, muscle relaxants and immobilization with cervical collar without improvement, in previous visits to PED. Physical examination revealed painful torticollis with complete cervical rotation to the left. She presented a longlining phenotype with short trunk, arachnodactyly (hands), ligamentous hyperlaxity and vertebral deformity with sacrococcygeal hyperkyphosis, all suggestive of connective tissue disorder. Tanner III. Neurologic examination was normal. Cervical Computed Tomography (CT) revealed atlantoaxial rotatory subluxation to the left (about 45 degrees). She was transferred to the Orthopedics and Traumatology Service of a tertiary hospital where a magnetic resonance imaging of the cervical spine was performed, demonstrating atlanto-occipital subluxation and rotatory subluxation of C1-C2 to the left. She was then submitted to cranial traction, with CT confirming the reduction and is currently awaiting definitive spinal fusion. After discharge, she will maintain multidisciplinary follow-up.

Conclusion: Spontaneous torticollis has a wide spectrum of presentation: benign and self-limited to severe and potentially fatal conditions, thus a thorough diagnostic evaluation being essential. Non-traumatic atlanto-occipital and atlantoaxial subluxation are rare and secondary to an infectious or, less frequently, associated with rheumatological disorders or genetic syndromes. This case shows a rare cause of torticollis and the need to proceed with a careful and complete anamnesis and physical examination, in search of clinical signs that may indicate an underlying disease.