Ocular torticollis in a 4-year-old with trisomy 21: a case report

Background: Ocular torticollis is a rare condition that results in abnormal head posture due to misalignment and deviation of the eyes. In this case, a pediatric patient had multiple presentations to the emergency department (ED) before receiving a final diagnosis of ocular torticollis, later confirmed by ophthalmology. This case demonstrates the diagnostic challenges of torticollis, especially in medically complex patients, uniquely emphasizing the importance of considering ocular causes when standard neurologic and musculoskeletal evaluations are inconclusive. Case Description: Here, we discuss the case of a 4-year-old female with trisomy 21 who initially presented to the pediatric ED with a new, persistent right head tilt. Her neurological exam and head and neck imaging were overall unremarkable. Diazepam subjectively improved her neck discomfort but did not resolve her head tilt. It was not until her third visit to the ED that subtle strabismus was detected, prompting referral to ophthalmology, who confirmed the diagnosis of ocular torticollis and recommended management with lateral rectus muscle resection. Conclusions: Torticollis itself is not the complete diagnosis, but rather, a symptom of underlying pathology, which may involve a range of organ systems. This case highlights the importance of maintaining a broad differential diagnosis and performing an ocular exam, including corneal reflex and cover/uncover test, for patients with head tilt. Early recognition and intervention are essential to prevent secondary complications and improve outcomes in pediatric patients with ocular torticollis.