A RARE SKELETAL DYSPLASIA-CLOSE MIMICKER OF JUVENILE IDIOPATHIC ARTHRITIS-PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA

Authors

  • Maira Riaz National Institute of Child Health Karachi
  • Zubair Khoso National Institute of Child Health Karachi
  • Versha Rani Rai National Institute of Child Health Karachi
  • Misbah Iqbal Hanif National Institute of Child Health, Karachi
  • Mohsina Noor Ibrahim National Institute of Child Health Karachi
  • Syed Jamal Raza National Institute of Child Health Karachi

DOI:

https://doi.org/10.55519/JAMC-04-S4-10897

Keywords:

Progressive pseudorheumatoid dysplasia, spondyloepiphyseal dysplasia tarda, Juvenile Idiopathic Arthritis

Abstract

Progressive pseudorheumatoid dysplasia or spondyloepiphyseal dysplasia tarda is caused by a mutation in Wnt1 inducible signalling pathway protein 3 (WISP3) and passes in an autosomal recessive manner. Prevalence underestimated as one per million and most of the cases remain undiagnosed or treated as Juvenile Idiopathic Arthritis (JIA). Differentiation between JIA and PPRD is really challenging however, this case is genetically confirmed from our country. 7-year-old, short stature boy, with multiple joint swellings of hands and feet, initially suspected to have JIA and had been worked up and took treatment for that for the past 2 years. He had progressive stiffness of small joints. Baseline biochemistry, erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), rheumatoid factor and ANA, were within normal limits. He was moderately growth hormone deficient. Thyroid function tests and insulin-like growth factor 1 (IGF-1) were within reference ranges. Skeletal survey showed typical findings of pseudorheumatoid skeletal dysplasia. Physical therapy and genetic counselling were done.

Author Biographies

Maira Riaz , National Institute of Child Health Karachi

Assistant Professor, Pediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi

Zubair Khoso, National Institute of Child Health Karachi

Assistant Professor, Pediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi

Versha Rani Rai, National Institute of Child Health Karachi

Medical Officer, Pediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi

Misbah Iqbal Hanif, National Institute of Child Health, Karachi

Deapartment of Diabetes and Endocrinology,  Clinical Geneticist

Mohsina Noor Ibrahim, National Institute of Child Health Karachi

Professor, Pediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi

Syed Jamal Raza, National Institute of Child Health Karachi

Professor, Pediatric Endocrinology and Diabetes, National Institute of Child Health, Karachi

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Published

2022-10-11

Issue

Vol. 34 No. 4(SUPPL 1) (2022): JOURNAL OF AYUB MEDICAL COLLEGE ABBOTTABAD

Section

CASE REPORT

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