Background Down syndrome (DS), the result of trisomy of chromosome 21 causing mental retardation, various structural abnormalities or disturbance of organ systems, is one of the most common chromosomal abnormalities. Orthopedic manifestations occur frequently in DS, most of them are related to hypotonia, joint hypermobility and ligamentous laxity (1). DS is predisposing to various autoimmune diseases, such as diabetes, thyroid disease and celiac disease. Prevalence of DS arthropathy in general population is more than 6 times higher than that of juvenile idiopathic arthritis (JIA) (2).
Objectives A 22-year old female with DS had since 11 years of age history of pain of her wrists, fingers, ankles and toes, and of morning stiffness for 1-2 hours. At the age of 13, we have diagnosed her with juvenile idiopathic RF-negative polyarthritis. Family history of arthritis was negative. Physical examination revealed limited range of motion and swelling in her elbows, wrists and ankles, as well as in bilateral metacarpophalangeal (MCP), proximal and distal interphalangeal (PIP) joints. Laboratory results showed a negative ANA, RF, ESR 32/hour, CRP 19.8 mg/dl and increased IgG (20.7 g/l). Hand X-Ray showed diffuse soft tissue swelling in her left wrist and PIP joints, bilateral MCP1 subluxation, and subluxation with space narrowing of left wrist. Foot X-Ray indicated periarticular osteoporosis, bilateral hallux valgus, right metatarsophalangeal joint (MTP5) erosion. Ankle X-Ray showed narrowing of the right talocrural space and diffuse bilateral soft tissue swelling. Treatment with methotrexate, naproxen and low dose prednisone resulted in improvement of clinical symptoms and stable conditions for several years. Nine years later our patient has irreversible joint damage and functional limitation without elevated inflammatory markers and active arthritis. X-Ray of hands showed worsening: usuration of left radiocarpal joint, erosions in left MCP 2,3 and 4, left wrist collapse, and right wrist deaxation. X-Ray of cervical spine revealed atlantoaxial subluxation of 5 mm without clinical symptoms. Patient continues with methotrexate therapy and daily physical therapy at home. Despite functional and radiographic worsening the patient and her parents are content with her condition.
Therapy with MTX was clinically effective, but did not prevent progression of arthropathy and disability in our patient. Prolonged methotrexate therapy in our patient is well tolerated and safe.
Atlantoaxial subluxation is common in patient with JIA and DS.
Yancey, C.L., Zmijewski, Ch, Arthreya, B.H., Doughty, R.A: Arthropathy of Down’s syndrome. Arthritis Rheum 1984, 27: 929- 934
Juj, H., Emery, H.: The Arthropathy of Down syndrome: An Underdiagnosed and Under- recognized Condition. J.Pediatr. 2009, 154: 234-8
Disclosure of Interest None Declared
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