Trevor's disease and whole-body MRI

Area of Science:

• Orthopedics
• Radiology
• Pediatric Medicine

Background:

• Dysplasia epiphysealis hemimelica (DEH), also known as Trevor's disease, is a rare congenital disorder.
• It presents as osteocartilaginous overgrowth in the epiphyses of long bones, typically diagnosed in childhood.
• Conventional imaging and MRI play crucial roles in DEH diagnosis.

Observation:

• Whole-body MRI (WBMRI) is an efficient imaging technique for detecting skeletal lesions.
• WBMRI can identify clinically and radiographically unsuspected DEH lesions throughout the affected limb.
• It reveals the characteristic distribution pattern of DEH without ionizing radiation.

Findings:

• WBMRI demonstrates high sensitivity in detecting DEH lesions in the skeleton.
• The characteristic distribution pattern of DEH is well visualized with WBMRI.
• Integrating WBMRI into routine MRI protocols can enhance diagnostic accuracy for DEH.

Implications:

• WBMRI can support the diagnosis of Trevor's disease, potentially obviating the need for biopsy.
• This imaging modality offers a non-invasive method to assess the full extent of DEH.
• WBMRI may guide therapeutic strategies by providing a comprehensive understanding of lesion distribution.