Torticollis as a Sole Presentation of Spondyloarthritis in a 4-Year-Old Child

Discussion

Juvenile idiopathic arthritis (JIA) is defined as arthritis without a determined etiology in children before the age of 16 years and lasting for at least 6 weeks.¹ It is estimated that ERA, a form of JIA, occurs in ~11% of all children with JIA, though a much higher percentage of cases are reported to occur in non-Western nations.² According to the International League of Associations for Rheumatology criteria, ERA is defined as arthritis and enthesitis of ≥ 6 weeks’ duration in children aged < 16 years, or arthritis or enthesitis plus two of the following: sacroiliac tenderness or inflammatory spinal pain, HLA-B27 positivity, onset of arthritis in boys aged > 6 years, anterior uveitis associated with pain, redness, or photophobia, and family history of HLA-B27-associated disease.^2,3 Cervical spine involvement rarely occurs in rheumatoid factor positive polyarticular or systemic JIA and is generally a late complication, while oligoarticular JIA rarely involves the cervical spine.^4,5 Diagnosis occurs at an average age of 12 years for ERA, and a vast majority of patients demonstrate either HLA-B27 positivity or a first-degree relative with an HLA-B27 associated disease such as reactive arthritis, anterior uveitis, ankylosing spondylitis, or inflammatory bowel disease.² One epidemiological study reports the youngest age for ERA as 2.8 years.⁶ In contrast to previously reported cases, our patient is a 4-year-old HLA-B27 negative White male with no first degree relatives having any HLA-B27 associated disease which, to our knowledge, has never been reported in the literature.

Acquired torticollis results from several etiologies including trauma, infection, inflammation, and neoplasm. Less common causes include neurological disorders such as dystonia, ophthalmologic disease with compensatory head positioning, central nervous system tumors, and Griesel syndrome.⁷ The initial work-up for our patient was extensive due to the broad differential diagnosis and rare involvement of the cervical spine in early phases of JIA.^8,9 Griesel syndrome provided a prominent differential in our patient due to similarities in presentation. This rare syndrome typically presents with torticollis and neck pain due to atlantoaxial subluxation emerging after the development of inflammation in the neck. The inflammation, in turn, commonly arises from upper respiratory or tonsillopharyngeal infections, otitis media, or surgery in the region. Current literature suggests the inflammation induces ligamentous laxity in the region compounded by susceptibility in children. This laxity allows subluxation of the atlantoaxial joint resulting in persistent pain, muscle spasm, and torticollis. The overlapping susceptibility to tonsillopharyngeal infections and laxity leads to Griesel syndrome primarily affecting young children.^10-12 Our patient exhibited torticollis and neck pain that was initially thought to be a complication of infection and was treated with amoxicillin, although the torticollis failed to improve. This created a clinical presentation consistent with Griesel syndrome, which required a diagnosis of exclusion to ensure prompt intervention and avoid permanent impairment. A series of MRIs of the cervical spine with proper alignment of the atlantoaxial joint excluded this diagnosis.

In younger adults, lymphadenopathies have rarely been described in association with ankylosing spondylitis.^13,14 Cervical lymphadenopathy in our patient resolved after treatment with nonsteroidal anti-inflammatory drugs for 2 weeks and improved both cervical spine movement and shoulder range of motion. Shoulder involvement at presentation is infrequent in JIA and usually signifies aggressive disease.¹⁵ Synovitis affected the bilateral glenohumeral joints in our patient and responded to treatment with naproxen, methotrexate, and adalimumab. A thorough diagnostic work-up with laboratory analysis for infectious, neoplastic, and autoimmune etiologies with corresponding MRI was necessary for proper identification and treatment of this patient. Pediatric patients with persistent torticollis should be evaluated for JIA and related conditions.

In the absence of uveitis, it is generally recommended to treat the patient with biologic and/or non-biologic disease modifying drugs for 6 to 12 months. This may be even longer (at least 2 years of being disease free) if there is coexistent uveitis.¹⁶ According to the Canadian ReACCh cohort with 1104 children with JIA, most patients managed with contemporary medicines attained clinically inactive disease within 2 years (median 13 months) of diagnosis and many were able to discontinue treatment. The probability of attaining remission within 5 years of diagnosis is about 50%, except for children with polyarthriticular disease. The probability of attaining inactive disease within 2 years ranged from 48% for patients with RF-positive polyarthritis to 91% for patients with psoriatic arthritis. Specifically for ERA, our patient’s diagnostic category, the probability of reaching clinically inactive disease (no arthritis, no uveitis, normal inflammatory markers, physician and patient assessment of disease at the minimum of the scale used) was 33% and 72%, respectively, at the end of the first and second year of diagnosis.¹⁷

Given the unusual clinical presentation (young age, HLA-B27 negative, coexistent cervical lymphadenopathy at presentation), a possibility exists that his diagnosis may undergo further evolution and declare itself in the future with additional symptoms and signs. This may include inflammatory bowel disease and sarcoidosis, among others.