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

This case report discusses a young boy with developmental delay and torticollis (head tilt), who was later found to have basilar invagination (BI). BI is a rare condition where the top of the spine pushes into the base of the skull, potentially compressing the brainstem and spinal cord. The boy's symptoms, including motor skill regression and spasticity, initially led to suspicions of a neurogenetic disorder. However, genetic testing did not fully explain his condition, and delays due to the COVID-19 pandemic complicated the diagnostic process. MRI imaging eventually revealed the basilar invagination, leading to surgical intervention and multidisciplinary management. This resulted in a remarkable recovery, with the patient regaining motor abilities and reaching a healthier weight percentile.

• 1
  Torticollis can be an early sign of basilar invagination (BI) in children, which requires thorough diagnostic evaluation.
• 2
  Delays in imaging due to factors like the COVID-19 pandemic can complicate and postpone the diagnosis of severe conditions like BI, affecting timely management.
• 3
  A multidisciplinary approach, including surgery and rehabilitation, is crucial for managing complex cases of torticollis and BI, leading to improved patient outcomes.