From Leukaemia to MOGAD, From Refractive Error to Dural Fistula: Torticollis as the Presenting Sign of Serious Disease in Children.
This retrospective, clinically selected series of 15 children describes torticollis as a presenting feature of diverse disorders—including five intracranial tumours and one acute monocytic leukaemia—and classifies cases into seven proposed pathophysiological mechanisms.
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This retrospective, clinically selected series of 15 children describes torticollis as a presenting feature of diverse disorders—including five intracranial tumours and one acute monocytic leukaemia—and classifies cases into seven proposed pathophysiological mechanisms.
Research significance
The study provides observational evidence that post-neonatal torticollis can accompany serious pediatric disease and often resolves after treatment of the underlying condition; it is reasonable but unproven to infer that mechanism-guided evaluation could accelerate diagnosis and treatment of occult malignancy or neurologic disease.
Source abstract
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.