Case Report

Rheumatology International

, Volume 24, Issue 1, pp 53-56

First online:

Clinical, radiographic, and genetic diagnosis of progressive pseudorheumatoid dysplasia in a patient with severe polyarthropathy

  • Stephan EhlAffiliated withCenter for Pediatrics and Adolescent Medicins, University Clinic Email author 
  • , Markus UhlAffiliated withDepartment of Diagnostic Radiology, Pediatric Radiology Section, University Clinic
  • , Reinhard BernerAffiliated withCenter for Pediatrics and Adolescent Medicins, University Clinic
  • , Luisa BonaféAffiliated withDivision of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois
  • , Andrea Superti-FurgaAffiliated withDivision of Molecular Paediatrics, Centre Hospitalier Universitaire Vaudois
  • , Antje KirchhoffAffiliated withUniversity Pediatric Clinic

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Abstract

A 14-year-old boy presented with a 10-year history of the "sicca" form of seronegative juvenile idiopathic polyarthritis. Severely limited range of motion, pain, and capsular swelling in both small and large weight-bearing joints left him wheelchair-bound. Erythrocyte sedimentation rate and C-reactive protein were normal. Two-phase bone scan revealed tracer uptake of almost every joint at both early and late time points, indicating pathologic exudation and enhanced bone metabolism consistent with severe arthritis. However, radiographic studies revealed no erosive arthropathy but severe osteopenia, dysplastic bone changes, mega os trigonum, and platyspondylia. A magnetic resonance imaging (MRI) scan of the hips showed no signs of synovitis, pannus, or effusion but cartilage irregularities and subchondral cysts. These findings strongly suggested the diagnosis of progressive pseudorheumatoid dysplasia of childhood, an autosomal-recessive disorder of cartilage homeostasis. The patient carries a novel homozygous two-nucleotide deletion in exon 4 of the WISP3 gene. This genetic disorder is an important differential diagnosis of sicca polyarthritis.

Keywords

Genetic Juvenile rheumatoid arthritis Mega os trigonum Platyspondylia Progressive pseudorheumatoid dysplasia