Spondyloepiphyseal Dysplasia Tarda with Progressive Arthropathy Associated with Osteoporosis and Cataract: A Case was Misdiagnosed as Juvenile Idiopathic Arthritis

Abstract

Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is rare hereditary disorder with autosomal recessive, X-linked recessive or autosomal dominant inheritance. Because of joint involvement SEDT-PA may be confused with juvenile idiopathic arthritis and SEDT-PA also called progressive pseudorheumatoidarthropathy of childhood. The present case had been misdiagnosed as juvenile arthritis and received unnecessary treatments for years. A 21-year-old male patient admitted with swelling and deformity in the fingers of hands, walking disturbance and common joint paint. Anteroposterior X-ray of the hip joint revealed widened and flattened epiphyses of the femoral head and bilateral narrow and irregular joint spaces. Bilateral tibiofemoral and patellofemoral joint spaces were narrowed in knee radiograph and there was osseous enlargement of the tibiofemoral joints. X-ray of the hands showed periarticular osteoporosis, significant narrowing of the joint spaces of proximal interphalengial and distal interphalangeal joints and osseous enlargement of the basis of the metacarpal, proximal and distal phalengeal bones. In lateral vertebral radiograph there was generalized osteopenia, platyspondyly with loss of weight in vertebral bodies, increased kyphosis in lateral thoracic spine and increased lordosis in lateral lumbal spine. He was diagnosed as SEDT-PA with osteoporosis and cortical cataract. Clinical features and joint involvement of SEDT-PA are similar to the JIA. Early diagnosis of SEDT-PA recovers patients from inappropriate and unnecessary treatments. Osteoporosis and ocular anomalies should be considered in patients diagnosed with SEDT-PA.