Chung Sang Wan, Kang Eun Ha, Lee Yun Jong, Ha You Jung, Song Yeong Wook
Division of Rheumatology, Department of Internal Medicine, Seoul National University Bundang Hospital, Seongnam, Korea.
Department of Internal Medicine, Seoul National University College of Medicine, Seoul, Korea.
Yonsei Med J. 2016 Sep;57(5):1290-3. doi: 10.3349/ymj.2016.57.5.1290.
Spondyloepiphyseal dysplasia (SED) tarda is an inherited skeletal arthropathy. Because SED tarda involves the joints and resemble the clinical findings of chronic arthropathies, this disease is frequently misdiagnosed as juvenile idiopathic arthritis (JIA). We report here on three patients (father and his two daughters) in one family with SED tarda. All patients had back pain and polyarthralgia. Their radiographs revealed typical changes for SED tarda including platyspondyly and dysplastic bone changes. This rare disease has major clinical importance in that it is similar with JIA or rheumatoid arthritis.
迟发性脊椎骨骺发育不良（SED）是一种遗传性骨骼关节病。由于迟发性SED累及关节且临床表现类似于慢性关节病，该病常被误诊为幼年特发性关节炎（JIA）。我们在此报告一个家庭中的三名迟发性SED患者（父亲及其两个女儿）。所有患者均有背痛和多关节痛。他们的X线片显示出迟发性SED的典型变化，包括椎体扁平及骨发育异常。这种罕见疾病具有重要的临床意义，因为它与JIA或类风湿关节炎相似。
