From Leukaemia to MOGAD, From Refractive Error to Dural Fistula: Torticollis as the Presenting Sign of Serious Disease in Children.

AIM: To describe the etiological spectrum and pathophysiological mechanisms of torticollis in a clinically selected paediatric cohort and to characterise clinical features associated with serious underlying pathology.

METHODS

We conducted a retrospective observational study at a tertiary referral centre over 5 years. Only patients in whom torticollis led to advanced evaluation or intervention were included. Cases were retrospectively classified by dominant pathophysiological mechanism.

RESULTS

Fifteen patients (9 boys, 6 girls; median age 4 years) were included. Aetiologies included intracranial tumours (n = 5), spinal dural arteriovenous fistula, myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD), ADPRHL2-related neurodegeneration (CONDSIAS), atlantoaxial subluxation, cervical lymphadenitis, laryngomalacia, epilepsy, ocular disorders, and acute monocytic leukaemia (AML-M5). Seven dominant mechanisms were assigned: compensatory posturing (n = 7), pain-avoidance posturing (n = 3), vestibulocerebellar dysfunction (n = 1), cervical spine instability (n = 1), ocular compensation (n = 1), cortical irritability (n = 1), and paroxysmal neurodegeneration (n = 1). Torticollis resolved in 13 of 15 patients (86.7%) after definitive treatment.

CONCLUSIONS

Torticollis developing after the neonatal period may be the presenting sign of conditions ranging from refractive error to leukaemia, MOGAD, and dural arteriovenous fistula in children. The mechanism-based interpretations presented here are hypothesis-generating and require prospective validation.