Rare Serious Etiologies in Patients Admitted to Pediatric Clinics with Acquired Torticollis

Abstract Purpose Torticollis is a clinical symptom characterized by an abnormal head posture. It can be caused by simple muscle-related pathologies, space-occupying lesions, neurological diseases, genetic disorders, or even ophthalmic pathologies. In this study, we evaluated the underlying etiologies in patients admitted to pediatric emergency departments and pediatric clinics due to torticollis. Methods This retrospective study included 13 patients admitted with torticollis between July 1, 2018, and December 1, 2021. Results Four patients had cranial pathologies, including cerebellar ependymoma, choroid plexus carcinoma, pontine glioma, and diffuse astrocytoma. One patient had a demyelinating disorder: anti-myelin oligodendrocyte glycoprotein (MOG antibody)-associated disease (MOGAD). Three patients had spinal pathologies, including atlantoaxial subluxation, vertebral osteoblastoma, and spinal dural arteriovenous fistula. Two patients presented with ear, nose, and throat pathologies; specifically, laryngomalacia and reactive lymph nodes. One patient had epilepsy, one had ocular pathologies (strabismus and esotropia), and one had a rare neurodegenerative genetic disorder resulting in epileptic encephalopathy. Conclusions Torticollis is a symptom that may indicate serious underlying conditions. When evaluating children with torticollis, it is important to consider the possibility of a posterior fossa tumor until it is ruled out. Radiologic imaging and a comprehensive ophthalmologic examination should be performed, especially to assess intracranial and ocular pathologies, even if theneurological examination appears normal. This report presents a case of torticollis associated with MOGAD, which, to the best of our knowledge, has not been previously reported. Additionally, the report discusses a wide spectrum of torticollis presentations, including an extremely rare case involving a patient with ADPRHL2mutation who presented with paroxysmal torticollis and developed progressive neurodegeneration. These findings emphasize the importance of investigating multiple underlying etiologies of torticollis.