Magnetic resonance imaging diagnosis of a skeletal dysplasia mimicking erosive arthropathy.
Christina F JackKrista L BirkemeierJose M SantiagoColleen F MacmurdoMatthew B CrispPublished in: Pediatric radiology (2021)
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.
Keyphrases
- magnetic resonance imaging
- contrast enhanced
- case report
- bone mineral density
- diffusion weighted imaging
- computed tomography
- neuropathic pain
- soft tissue
- high resolution
- bone loss
- magnetic resonance
- single cell
- pulmonary embolism
- postmenopausal women
- genome wide
- copy number
- risk assessment
- gene expression
- spinal cord injury
- resting state
- spinal cord
- subarachnoid hemorrhage
- cerebral ischemia
- functional connectivity
- brain injury