From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation management

Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the ACAN gene, is important for cartilage structure and function. We describe the clinical evolution of a patient with short stature, multi-focal OCD,...

Full description

Bibliographic Details
Main Authors: Maria Ochoa, Ashlee Yang, Carrie Kollias, Christina Bakir, Sasha Carsen, Joanna Lazier, A. Micheil Innes, Marika Pagé, Jonathan Dawrant, Marie-Eve Robinson, Khaldoun Koujok, Nazih Shenouda, Frank Rauch, Leanne M. Ward
Format: Article
Language:English
Published: Elsevier 2023-06-01
Series:Bone Reports
Subjects:
Osteochondritis dissecans
ACAN
Short stature
Subchondral fracture
Bisphosphonate
Online Access:http://www.sciencedirect.com/science/article/pii/S2352187223000116
Description
Summary:Osteochondritis dissecans (OCD) is a disease of the joints characterized by idiopathic focal subchondral lesions. Aggrecan, a proteoglycan encoded by the ACAN 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 ACAN variant. A multi-disciplinary approach including medical (bisphosphonate) therapy, surgical intervention and rehabilitation were successful in restoring wellness and physical function.
ISSN:2352-1872

Similar Items