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.
Keywords: Adolescent; Dysplasia; Endochondral ossification; Epiphyseal dysplasia; Epiphyses; Magnetic resonance imaging; Skeletal dysplasia; TRPV4.
© 2021. The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.