J Rheum Dis.  2011 Dec;18(4):311-314. 10.4078/jrd.2011.18.4.311.

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

• Oh IH
• Song JS
• Rim DH
• Choi JW
• Lee S
• Lee JH
• Kim TH

• KMID: 2223137
• DOI: http://doi.org/10.4078/jrd.2011.18.4.311

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.

Keyword

Spondyloepiphyseal dysplasia tarda; Ankylosing spondylitis; Juvenile idiopathic arthritis

MeSH Terms

Adolescent
Arthralgia
Arthritis, Juvenile Rheumatoid
Congenital Abnormalities
Dwarfism
Epiphyses
Gait
Humans
Joints
Osteochondrodysplasias
Prognosis
Rare Diseases
Republic of Korea
Spondylitis, Ankylosing

Figure

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  Figure 1. Antero-posterior (AP) radiograph of lumbar spine show characteristic platyspondyly and severe osteoarthritis in the both hip joints. No definite evidence of sacroiliitis is shown.

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  Figure 2. Lateral plain radiograph of lumbar spine shows characteristic osseous humps (arrow) in the central and posterior portions of the vertebral endplates. The disc spaces are narrow posteriorly and wide anteriorly.

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