Atypical Presentation of Juvenile Rheumatoid Arthritis in a Patient with Monosomy 1p36

Abstract

Monosomy 1p36 is a congenital genetic disorder characterized by moderate to severe global developmental and growth delay, hearing and vision impairment, hypotonia, seizures, and distinct facial features. We present the first published description of a patient with monosomy 1p36 with an atypical arthropathy, a feature also not currently described either standalone entity or as part of the monosomy 1p36 syndrome. The patient described is a 11-year-old male who was referred to the pediatric rheumatology clinic for morning stiffness, pain, swelling, and remarkable redness in his all proximal interphalangeal joints (PIP), right wrist and in his right hip with reduced range of motion. The patient had no family history of autoimmune diseases or inflammatory arthritis, tick bites, injuries or recent flu like illness. He resided on a farm in rural Missouri. Upon evaluation the patient was found to have inflammation and swelling in all the PIPs, right wrist as well as pain and limitations in internal rotation of right hip joint. The joints were significantly erythematous and angry looking. Further laboratory evaluations revealed the patient had normal white cell counts (WBC), normal ESR and C-reactive Protein, negative Rheumatoid Factor, was negative for HLAB27 gene and negative serologic tests for streptococcal antigens, mycoplasma and parvovirus. The Contrast MRI scan of his joints showed soft tissue swelling with no synovial enhancement or bone marrow edema. The patient was started on Meloxicam, with no response for 12 weeks. He then received triamcinolone acetonide intra articular injections in his all the PIP joints, and wrist joints with good response. Unfortunately within a month’s time his mid foot and interphalangial joints of several toes were inflamed. He was started on oral methotrexate immunosuppression to which he responded well and currently in remission on tapering doses of methotrexate. This report details a steroid-responsive atypical arthropathy found in association with monosomy 1p36. This arthropathy may be an atypical variant of juvenile rheumatoid arthritis in a patient with chromosomal anomaly, or perhaps an arthropathy associated with monosomy 1p36,an entity which is yet to be recognized. This arthropathy responded to therapy with immunosuppressant agents.