A Case of Torticollis With Cavernomas

Background: Torticollis is characterised by abnormal head posture due to cervical muscle spasms. In paediatric patients, torticollis is often benign, but it can rarely indicate neurological and vascular disorders. The association of posterior fossa tumours with torticollis has been reported in the literature. Cavernomas, or cavernous malformations, are vascular anomalies of the brain. These lesions occur in 0.1-0.5% of the population, and up to a quarter of cases occur in children. There is often a genetic association in patients presenting with multiple cavernomas. We report a case of cavernomas presenting as torticollis, a rare presentation. Case Presentation Summary: A 4-year-old child presented to the A&E department of a DGH with a two-week history of torticollis. She had previously been reviewed in two different healthcare settings. On examination, GCS was 15/15. There was left-sided torticollis and horizontal nystagmus on leftward gaze. The rest of the systemic examination was unremarkable. Developmental history was normal. A non-contrast CT head revealed two focal hyperdense lesions in the frontal and pontine regions, suggesting cavernomas. The child was transferred to a tertiary centre, where MRI confirmed a left frontal white matter cavernoma and a haemorrhagic lesion in the pons, both consistent with cavernous malformations. Further history revealed that the patient's maternal grandfather had a diagnosed cavernoma, prompting genetic testing for the family. The patient was admitted for observation, and surgical intervention was not needed. The family was counselled on the diagnosis of cavernomas. A follow-up with the neurosurgical team was arranged. Genetic testing results are pending. Learning Points Discussion: This case highlights torticollis as an unusual presentation of cavernomas in children. Persistent torticollis should prompt a thorough investigation into underlying causes, including rare conditions. Early imaging and neurosurgical consultation are essential for diagnosis and management, particularly in cases with a family history of vascular malformations.