From "<i>ACAN</i>" to "I CAN": Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 36950254.
- Also identified by DOI 10.1016/j.bonr.2023.101663 and PMC identifier 10025132.
- Licence recorded as CC BY-NC-ND.
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Abstract
Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the <i>ACAN</i> gene, is important for cartilage structure and function. We describe the clinical evolution of a patient with short stature, multi-focal OCD, and subchondral osteopenia that appeared linked to a novel pathogenic <i>ACAN</i> variant. A multi-disciplinary approach including medical (bisphosphonate) therapy, surgical intervention and rehabilitation were successful in restoring wellness and physical function.