Torticollis as an early manifestation of basilar invagination in a paediatric patient

This case report describes the clinical journey of a male patient in early childhood with developmental delay, failure to thrive, worsening right-sided head tilt torticollis and regression of motor skills with spasticity of the lower limbs. The case was complex due to the early onset and gradually worsening symptoms, including a decline in established motor milestones. Genetic testing to investigate the delayed neurodevelopment revealed a <i>FRA10AC1</i> variant that did not fully explain the patient's phenotype. Investigations were delayed due to the coronavirus disease 2019 pandemic and other factors related to the patient. Eventually, MRI revealed basilar invagination with cord compression and cord oedema at the C1-C2 junction. Treatment included foramen magnum decompression and management of symptoms using a multidisciplinary approach. Treatment resulted in a remarkable recovery. The patient regained some motor abilities and reached the 50th weight percentile.