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

Introduction

Background

Ocular torticollis often presents a diagnostic challenge, especially in the pediatric emergency room setting. Ocular torticollis is a condition characterized by an abnormal head posture adopted to compensate for eye misalignment, nystagmus, ptosis, or refractive error, and even foreign body. The head tilt adjustment helps to optimize visual function and reduce symptoms such as diplopia or blurred vision (1,2). The prevalence of ocular pathology in individuals with trisomy 21 is significantly higher than in the general population. Common ocular manifestations include strabismus, nystagmus, refractive errors, congenital cataracts, keratoconus, and decreased visual acuity (3-5). The prognosis for ocular conditions in trisomy 21 varies. Early detection and routine ophthalmology exams are crucial for preventing long-term visual impairment (5). Treatments include corrective lenses for refractive errors, surgical interventions for strabismus and cataracts, and corneal cross-linking or transplantation for keratoconus (3,5).

Rationale and knowledge gap

The diagnosis of ocular torticollis is often overlooked given more common etiologies of torticollis including orthopedic, infectious, or neurologic causes (6-8). This study outlines the importance of a thorough workup to differentiate between these common causes. Moreover, we describe how the diagnostic and treatment process may differ for a pediatric patient with co-morbid conditions, including trisomy 21.

Objective

The objective of this case is to highlight the importance of maintaining a thorough differential diagnosis for pediatric patients presenting with abnormal head posture, with specific consideration of ocular etiologies including ocular torticollis. We advocate for increased clinical suspicion in patients with medical complexity, which may potentially obscure less common diagnoses. We present this case in accordance with the CARE reporting checklist (available at https://jeccm.amegroups.com/article/view/10.21037/jeccm-2025-12/rc).

Case presentation

A 4-year-old female with a history of trisomy 21, severe developmental delay, under-immunization, recent bacterial conjunctivitis on trimethoprim-polymyxin B ophthalmic drops, and acute otitis media on cefdinir, presented to the pediatric emergency department (ED) for evaluation of persistent cough and 1 day of preferentially tilting her face to the left (Table 1). There was no trauma or precipitating injuries. Her mother first noticed the abnormal positioning that morning and wondered if the child slept with her head mispositioned, resulting in a “crooked neck”. She was still tolerating oral intake with adequate urine output. She had no drooling, difficulty breathing, fevers, fussiness, vomiting, or gait changes.

Physical examination revealed an active, non-toxic appearing child in no acute distress. Vital signs were within the normal range for her age group. She had no apparent hearing loss. The nasal examination demonstrated copious drainage. Lung sounds were coarse overall with upper airway congestion. She was preferentially turning her face and chin to the left. Her neurologic exam was at baseline with no focal deficits. There was no appreciable sternocleidomastoid muscle fibrosis. Anterior-posterior and lateral view of the X-ray of the cervical spine demonstrated rotation and flexion of the head, representative of torticollis. There were no acute osseous abnormalities. An odontoid view of the neck X-ray was unable to be obtained due to patient unwillingness.

She was given a dose of diazepam which resulted in subjective improvement in neck stiffness. Parents opted to forgo additional imaging at that time, and given her reassuring examination, she was discharged with a plan to continue supportive care at home including warm packs and ibuprofen.

The child returned to the ED 2 days later with persistent neck discomfort and torticollis. She did not have any new symptoms. Her exam was unchanged. She was given one milligram of diazepam by mouth and a standard dose of ibuprofen. On re-assessment, the patient’s neck stiffness and range of motion improved, but the head tilt persisted. She was discharged home with a plan to try diazepam every eight hours for likely spasmodic torticollis and ibuprofen every six hours for pain.

One week later, the family presented to the ED again and reported that the child could move her neck to the right and left more than previously; however, she still kept “her neck mildly crooked”. Additionally, she intermittently complained of right-sided neck pain. Her neurological exam was unchanged. Computed tomography (CT) of the head showed no acute intracranial pathology. CT of the cervical spine demonstrated no acute fracture, subluxation, or atlantoaxial rotation. Soft tissue ultrasound of the head and neck showed prominent right cervical lymph nodes but no abscess. Incidentally, at the time of discharge from the ED, it was noted that she exhibited nystagmus when looking left. A brief ocular examination was performed and revealed strabismus of the left eye and intermittent left-sided nystagmus especially when looking to the right side. Considering the presence of strabismus, it was suspected that the child was compensating with head tilt, concerning for ocular torticollis.

The patient was referred for urgent outpatient follow-up with pediatric ophthalmology. There, the ophthalmologic exam was consistent with strabismus, specifically alternating exotropia with a V pattern and latent nystagmus. She was diagnosed with ocular torticollis and recommended surgery to improve ocular alignment and help control strabismus. On follow-up with ophthalmology 6 weeks later, she had persistent findings consistent with ocular torticollis. Surgical correction and corrective lenses were again recommended, but the patient’s mother declined due to the patient’s developmental delays.

All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Verbal consent was provided by the patient’s mother for the publication of this case report.

Discussion

Key findings

The differential diagnosis for this child’s presentation included atlantoaxial instability/subluxation, spasmodic torticollis, Grisel’s syndrome, retropharyngeal abscess, ophthalmologic etiology, cervical spine injury, and posterior fossa mass. Patients with a history of trisomy 21 are at higher risk of atlantoaxial instability or subluxation (9). Hence, a neck X-ray was performed during the first ED visit, which was normal. Grisel syndrome, which may result from inflammatory weakening of the atlantoaxial ligaments due to infection, was ruled out by a negative infectious workup (10). Although the patient had no fever and did not appear systemically ill, which is typically the case with retropharyngeal abscess, a CT scan of the neck was obtained, revealing no abscess or spine injury. Because posterior fossa masses can cause torticollis through brainstem compression, cerebellar dysfunction, increased intracranial pressure, and secondary muscle spasms, a CT scan of the head was also performed and effectively ruled out any intracranial mass. Spasmodic torticollis, a common ED presentation, was initially considered as the diagnosis. The patient was treated with pain medication to alleviate discomfort, and diazepam was administered as a muscle relaxant, with some relief. Congenital muscular torticollis, often due a shortened sternocleidomastoid muscle is another common cause in younger patients, though would most likely be noticed within the first few weeks of life (6,7).

The most common ocular causes of head tilt include congenital nystagmus, superior oblique paresis, dissociated vertical deviation, Brown syndrome, and refractive errors (4). Ocular torticollis is not typically part of the trisomy 21 phenotype, but strabismus and nystagmus are common causes of abnormal head position in patients with trisomy 21 (3-5). Ocular torticollis due to strabismus is a specific type of torticollis characterized by abnormal head posture due to misalignment and deviation of the eyes (11). Evaluation for ocular torticollis involves clinical assessment of eye alignment through tests such as the corneal light reflex (Hirschberg test) and cover/uncover test. The corneal light reflex is performed by observing the reflection of a light source on the cornea, which should normally be symmetrically centered on both corneas (12). Displacement of the light reflex from the normal central position indicates ocular misalignment. During the cover/uncover test, the patient maintains fixation on a distant target while one eye is covered; any movement or deviation of the uncovered eye during this process indicates misalignment (10,13). In this case, the V pattern strabismus results from inferior oblique muscle overaction and/or relative under-activation of the superior oblique muscles (14). The head tilt and chin deviation are secondary compensatory mechanisms aimed at preserving binocular single vision (15).

Strengths and limitations

The strengths of this study include a detailed and systematic diagnostic workup in the ED, utilizing imaging and clinical evaluation to evaluate for the broad differential diagnoses of head tilt. The use of appropriate imaging studies effectively excluded cannot-miss underlying pathologies. Limitations include under-recognition of subtle ocular findings without ophthalmology input in the acute setting. Additionally, there was limited follow-up information regarding the patient’s symptoms, as the family declined surgery at the second ophthalmology appointment and has not returned to clinic since.

Comparison with similar studies

A few previous studies have highlighted the diagnostic challenge of ocular torticollis (16,17). These articles emphasize the importance of considering ocular causes in patients presenting with torticollis, especially when standard treatments for muscular or orthopedic causes do not resolve the symptoms. The authors discuss how ocular misalignment, such as strabismus, can lead to compensatory head postures to maintain binocular vision, and successful management of the condition through appropriate ophthalmic interventions, which corrected the head posture and improved visual alignment. The patients in these described cases did not have congenital syndromes, therefore the differential was not as broad, and workup was not as comprehensive. All patients in these studies faced delayed diagnosis.

Explanations of findings

Children with trisomy 21 are known to be at increased risk for atlantoaxial instability, so new-onset torticollis often triggers a workup for cervical spine pathology. This case emphasizes that not all torticollis in patients with trisomy 21 is orthopedic in nature. Only after persistent symptoms and careful re-evaluation, including attention to the incidental finding of nystagmus, was an ocular etiology suspected. This case underscores the importance of careful evaluation including thorough eye examination at initial presentation. In cases of suspected ocular torticollis, a multidisciplinary approach with early ophthalmologic referral can prevent unnecessary interventions and expedite appropriate treatment.

Implications and actions needed

Management of ocular torticollis due to strabismus involves addressing the underlying cause of the eye misalignment and associated head posture. Ophthalmology referral is essential in these cases. Treatment options aim to correct the strabismus, which can be done through corrective lenses or patching therapy for mild cases. Botulinum toxin injections into specific extraocular muscles have been shown to temporarily alleviate misalignment and associated head posture in strabismus-related ocular torticollis. However, repeat injections are often necessary, and potential risks include ptosis, vertical deviations, and globe perforation (18). Surgical interventions, such as extraocular muscle surgery, can provide more permanent correction, but also carry associated risks and may necessitate additional procedures, with up to 40% of patients requiring subsequent surgeries (19). Conservative treatments, including corrective lenses or prisms, may benefit patients with mild misalignment or those who are poor surgical candidates. Since binocular vision development begins at about four months of age and is well developed by 4 years of age, prompt identification and treatment of ocular causes of head tilt are essential to prevent secondary complications such as amblyopia or permanent abnormal head posture (6).

Conclusions

Ocular torticollis may be challenging to discern from other etiologies of torticollis, thus a thorough ocular examination is essential in the diagnostic workup of this presentation. Children often have challenging eye exams, as they may be uncooperative, making diagnosis difficult. Many providers avoid conducting eye exams in uncooperative patients, but it’s important to remain vigilant for ocular torticollis in those presenting with symptoms of a crooked neck. In our case, it wasn’t until the third ED visit that the provider observed abnormal movements at the time of the patient’s discharge. Early recognition and intervention of this condition are beneficial as this lends to prompt management in addressing the underlying ocular misalignment, which may improve outcomes and prevent the development of secondary complications.

Acknowledgments

The authors gratefully acknowledge the permission of this patient and her family to share the information contained in this case report.

Footnote

Reporting Checklist: The authors have completed the CARE reporting checklist. Available at https://jeccm.amegroups.com/article/view/10.21037/jeccm-2025-12/rc

Peer Review File: Available at https://jeccm.amegroups.com/article/view/10.21037/jeccm-2025-12/prf

Funding: None.

Conflicts of Interest: Both authors have completed the ICMJE uniform disclosure form (available at https://jeccm.amegroups.com/article/view/10.21037/jeccm-2025-12/coif). The authors have no conflicts of interest to declare.

Ethical Statement: The authors are accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this study were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Declaration of Helsinki and its subsequent amendments. Verbal consent was provided by the patient’s mother for the publication of this case report.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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