Is axial magnetic resonance imaging useful in early juvenile spondyloarthritis-preliminary report.

INTRODUCTION/OBJECTIVES: Magnetic resonance imaging (MRI) is recommended for evaluation of changes in juvenile spondyloarthropathies (JSpA). To our knowledge, there is no previous prospective study analysing early changes on axial MRI. The objective is to investigate incidence of reparable changes on axial MRI in patients with established JSpA, lasting for less than 6 months. MATERIALS AND METHODS: The pilot study included 27 patients with confirmed diagnosis of JSpA examined within 2 years. Prior to imaging, basic demographic and laboratory data and HLA-B27 were collected. Patients filled out a visual analogue scale for pain and a childhood health assessment questionnaire. A paediatric rheumatologist and a paediatric physiatrist examined patients and measured indices of flexion, extension and sagittal flexibility. Contrast-enhanced axial MRI examination and cervical x-ray were performed. Three experienced paediatric radiologists independently reviewed x-ray and MRI images of all patients. RESULTS: There was no significant correlation between early changes detected on MRI and other parameters. The study revealed early changes of the cervical spine to be the most common finding. More patients had positive cervical MRI than positive sacroiliac joint (SIJ) MRI. Cervical x-ray and MRI were equally useful for diagnosis regardless of other parameters. CONCLUSION: Study showed new information on axial involvement, striking cervical spine as the most involved part. The biggest study limitation is the small number of patients. Establishing early JSpA diagnosis is of utmost importance, especially in the light of novel therapy introduced in every day practice. It seems that cervical spine involvement is more represented than previously described in literature, especially in comparison with SIJ. Key Points • Contrast-enhanced MRI is considered the gold standard for detection early changes in JSpA. • Standardization of diagnostic criteria and better classification of changes using the unique scoring system for children are necessary. • It seems that cervical spine involvement is more represented than previously described in the literature, especially in comparison with SIJ involvement.

Neurogenic muscle hypertrophy in a 12-year-old girl.

Muscular hypertrophy secondary to denervation is very rare, but well-documented phenomena in adults. This is the first report of a child with neurogenic unilateral hypertrophy due to S1 radiculopathy. A 12-year-old girl presented with left calf hypertrophy and negative history of low back pain or trauma. The serum creatinine kinase level and inflammatory markers were normal. Magnetic resonance imaging showed muscle hypertrophy of the left gastrocnemius and revealed a protruded lumbar disc at the L5-S1 level. The protruded disc abuts the S1 root on the left side. Electromyography showed mild left S1 radiculopathy. Passive stretching and work load might clarify the origin of neurogenic hypertrophy but there is still a need for further evidence. Clinical, laboratory, magnetic resonance imaging and electromyography findings showed that S1 radiculopathy could be a cause of unilateral calf swelling in youth even in the absence of a history of back or leg pain.

Ataxia Telangiectasia and Juvenile Idiopathic Arthritis.

We report, to the best of our knowledge, the first case of a child with typical ataxia telangiectasia (A-T) who developed juvenile idiopathic arthritis (JIA). The patient was a 15-year-old boy with A-T who presented with noninfectious polyarthritis. A-T is a rare, autosomal recessive disorder characterized by cerebellar atrophy, oculocutaneous telangiectasia, immunodeficiency, radiosensitivity, and predisposition to cancer. The gene responsible for A-T is the A-T mutated (ATM) gene. Clinical manifestations of the disorder are the result of lacking ATM protein, which is involved in DNA repair, apoptosis, various checkpoints in the cell cycle, gene regulation, translation, initiation, and telomere maintenance. There are a few articles that describe deficiency of the DNA repair enzyme, ATM, in rheumatoid arthritis, but the connection between the absence of ATM protein and JIA has not been presented or studied yet. JIA is a heterogeneous group of diseases characterized by arthritis of unknown origin with onset before the age of 16 years. It is the most common childhood chronic rheumatic disease and causes significant disability. Because immunodeficiency can be part of A-T, infectious arthritis can occur, but chronic autoimmune arthritis in these patients is rare. We report a rare case of a 15-year-old boy with A-T and JIA. This case shows a possible relationship between altered function of ATM protein and the pathogenesis of JIA.