강직성 척추염으로 오인된 지연형 척추 골단 이형성증 1예

Abstract

10년 전 양측 발목의 통증과 경부와 요추부의 강직과 통증으로 강직성 척추염 진단 받고 NSAIDs 치료 중이었으나 호전이 없던 환자를 재평가하는 과정에서 신체 검진과 영상학적 검사를 통해 지연형 척추골단 이형성증으로 진단 후 치료중인 증례를 문헌 고찰과 함께 보고하는 바이다. The spondyloepiphyseal dysplasia tarda (SEDT) is a hereditary arthropathy that progressively leads to deformities of small and large joints, irregularities of the end plates of vertebral bodies, which causes joint restriction, short stature, and gait difficulties. The typical radiographic findings of SEDT are generalized platyspondyly and dysplasia of the epiphyses, resulting in premature arthrosis. Clinically SEDT is manifested as a form of short-trunk dwarfism and early arthrosis in the period from late childhood to adolescence. The major clinical importance of this rare disease is similarity to juvenile idiopathic arthritis (JIA), which has a rather different prognosis and treatment. A few cases of SEDT have been published. However, no cases have been reported in South Korea. We describe the case of a 29-year old man who suffered from back and multiple joint pain, who was misdiagnosed as having ankylosing spondylitis. We evaluated the patient clinically and radiographically in greater detail, and changed his diagnosis to SED tarda.