Case Report

J Rheum Dis 2011; 18(4): 311-314

Published online December 30, 2011

© Korean College of Rheumatology

강직성 척추염으로 오인된 지연형 척추 골단 이형성증 1예

오일환1ㆍ송준석1ㆍ임동휘1ㆍ최종욱1ㆍ이승훈2ㆍ이주현3ㆍ김태환1,3

한양대학교 의과대학 내과학교실1, 영상의학교실2, 류마티스병원 류마티스내과3

A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

Il Hwan Oh1, June Seok Song1, Dong Hwi Rim1, Jong Wook Choi1, Seunghun Lee2, Joo-Hyun Lee3, Tae-Hwan Kim1,3

Departments of Internal Medicine1, and Radiology2, Hanyang University College of Medicine, Department of Rheumatology, Hanyang University Hospital for Rheumatic Disease3, Seoul, Korea

Correspondence to : Tae-Hwan Kim

Abstract

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.

Keywords Spondyloepiphyseal dysplasia tarda, Ankylosing spondylitis, Juvenile idiopathic arthritis

Article

Case Report

J Rheum Dis 2011; 18(4): 311-314

Published online December 30, 2011

Copyright © Korean College of Rheumatology.

강직성 척추염으로 오인된 지연형 척추 골단 이형성증 1예

오일환1ㆍ송준석1ㆍ임동휘1ㆍ최종욱1ㆍ이승훈2ㆍ이주현3ㆍ김태환1,3

한양대학교 의과대학 내과학교실1, 영상의학교실2, 류마티스병원 류마티스내과3

A Case of Spondyloepiphyseal Dysplasia Tarda (SEDT) Misdiagnosed as Ankylosing Spondylitis

Il Hwan Oh1, June Seok Song1, Dong Hwi Rim1, Jong Wook Choi1, Seunghun Lee2, Joo-Hyun Lee3, Tae-Hwan Kim1,3

Departments of Internal Medicine1, and Radiology2, Hanyang University College of Medicine, Department of Rheumatology, Hanyang University Hospital for Rheumatic Disease3, Seoul, Korea

Correspondence to:Tae-Hwan Kim

Abstract

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.

Keywords: Spondyloepiphyseal dysplasia tarda, Ankylosing spondylitis, Juvenile idiopathic arthritis

JRD
Oct 01, 2024 Vol.31 No.4, pp. 191~263
COVER PICTURE
Ancestry-driven pathways for SLE-risk SNP-associated genes. The ancestry-driven key signaling pathways in Asians, Europeans, and African Americans were analyzed by enrichr (https://maayanlab.cloud/Enrichr/#libraries) using non-HLA SNP-associated genes. SLE: systemic lupus erythematosus, SNP: single-nucleotide polymorphism, JAK–STAT: janus kinase–signal transducers and activators of transcription, IFN: interferon gamma. (J Rheum Dis 2024;31:200-211)

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