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Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy

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Abstract

This case report of a 14-year-old boy with arthralgia and clinically suspected inflammatory arthropathy highlights how magnetic resonance imaging (MRI) ultimately diagnosed skeletal dysplasia. A genetic evaluation revealed a transient receptor potential vanilloid 4 (TRPV4) pathogenic variant. This is a rare description of the MRI appearance of this type of dysplasia in long bone epiphyses corresponding with the histological findings of disrupted endochondral ossification. This report offers imaging support to the description of endochondral bone growth disruption in TRPV4-related skeletal dysplasias.

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Authors and Affiliations

  1. Texas A&M Health Science Center, College of Medicine, Temple, TX, USA

    Christina F. Jack

  2. Department of Radiology, Baylor Scott & White McLane Children’s Medical Center, Texas A&M University Health Sciences, 2401 S. 31st St., MS-01-W256, Temple, TX, USA

    Krista L. Birkemeier

  3. Department of Radiology, Scott & White Medical Center, Temple, TX, USA

    Jose M. Santiago & Matthew B. Crisp

  4. Division of Medical Genetics, Department of Internal Medicine, Scott & White Medical Center, Temple, TX, USA

    Colleen F. Macmurdo

Authors
  1. Christina F. Jack
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  2. Krista L. Birkemeier
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  3. Jose M. Santiago
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  4. Colleen F. Macmurdo
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  5. Matthew B. Crisp
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Correspondence to Krista L. Birkemeier.

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Jack, C.F., Birkemeier, K.L., Santiago, J.M. et al. Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy. Pediatr Radiol 51, 1758–1761 (2021). https://doi.org/10.1007/s00247-021-05027-6

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  • DOI: https://doi.org/10.1007/s00247-021-05027-6

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