Progressive pseudorheumatoid dysplasia

被引:29
作者
Mampaey, S
Vanhoenacker, F
Boven, K
Van Hul, W
De Schepper, A
机构
[1] St Maarten Hosp, Dept Radiol, B-2570 Duffel, Belgium
[2] Univ Antwerp Hosp, Dept Radiol, B-2650 Edegem, Belgium
[3] Univ Antwerp Hosp, Dept Pediat, B-2650 Edegem, Belgium
[4] Univ Instelling Antwerp, Dept Med Genet, B-2610 Wilrijk, Belgium
关键词
platyspondyly; MRI; progressive pseudorheumatoid; dysplasia; bone; osteochondrodysplasia;
D O I
10.1007/s003300000518
中图分类号
R8 [特种医学]; R445 [影像诊断学];
学科分类号
1002 ; 100207 ; 1009 ;
摘要
A rare case of progressive pseudoheumatoid dysplasia (PPD) in a 9-year-old girl is presented. Clinically, chronic painless swollen joints, accompanied by progressive motion restriction and progressive walking difficulties, were found. Radiologically, there was enlargement of the epimetaphyseal portions of the large joints, metacarpal heads, and phalanges, and generalized platyspondyly with irregular delineation of the endplates of the vertebral bodies. The radioclinical features at the peripheral joints were originally misdiagnosed ad juvenile rheumatoid arthritis (JRA), and the structural spinal abnormalities were neglected and interpreted as Scheuermann's disease. However, the absence of active inflammatory parameters argues against JRA, whereas the low age of onset of the irregularities at the vertebral endplates is an arhument against the diagnosis of Scheuermann's disease. The combination of the dysplastic abnormalities of the spine, with platysponsyly and Scheuermann-like lesions at an unusally low age of onset, and radiological features mimicking JRA of the peripheral joints, is the clue to the diagnosis of this rare autosomal-recessive disease. This case is the first to document the MRI features of PPD of the spine.
引用
收藏
页码:1832 / 1835
页数:4
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