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,...

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Autores principales: Ochoa, Maria, Yang, Ashlee, Kollias, Carrie, Bakir, Christina, Carsen, Sasha, Lazier, Joanna, Innes, A. Micheil, Pagé, Marika, Dawrant, Jonathan, Robinson, Marie-Eve, Koujok, Khaldoun, Shenouda, Nazih, Rauch, Frank, Ward, Leanne M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025132/
https://www.ncbi.nlm.nih.gov/pubmed/36950254
http://dx.doi.org/10.1016/j.bonr.2023.101663
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author Ochoa, Maria
Yang, Ashlee
Kollias, Carrie
Bakir, Christina
Carsen, Sasha
Lazier, Joanna
Innes, A. Micheil
Pagé, Marika
Dawrant, Jonathan
Robinson, Marie-Eve
Koujok, Khaldoun
Shenouda, Nazih
Rauch, Frank
Ward, Leanne M.
author_facet Ochoa, Maria
Yang, Ashlee
Kollias, Carrie
Bakir, Christina
Carsen, Sasha
Lazier, Joanna
Innes, A. Micheil
Pagé, Marika
Dawrant, Jonathan
Robinson, Marie-Eve
Koujok, Khaldoun
Shenouda, Nazih
Rauch, Frank
Ward, Leanne M.
author_sort Ochoa, Maria
collection PubMed
description 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.
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spelling pubmed-100251322023-03-21 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 Ochoa, Maria Yang, Ashlee Kollias, Carrie Bakir, Christina Carsen, Sasha Lazier, Joanna Innes, A. Micheil Pagé, Marika Dawrant, Jonathan Robinson, Marie-Eve Koujok, Khaldoun Shenouda, Nazih Rauch, Frank Ward, Leanne M. Bone Rep Case Report 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. Elsevier 2023-02-18 /pmc/articles/PMC10025132/ /pubmed/36950254 http://dx.doi.org/10.1016/j.bonr.2023.101663 Text en © 2023 The Authors https://creativecommons.org/licenses/by-nc-nd/4.0/This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Ochoa, Maria
Yang, Ashlee
Kollias, Carrie
Bakir, Christina
Carsen, Sasha
Lazier, Joanna
Innes, A. Micheil
Pagé, Marika
Dawrant, Jonathan
Robinson, Marie-Eve
Koujok, Khaldoun
Shenouda, Nazih
Rauch, Frank
Ward, Leanne M.
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
title 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
title_full 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
title_fullStr 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
title_full_unstemmed 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
title_short 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
title_sort 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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10025132/
https://www.ncbi.nlm.nih.gov/pubmed/36950254
http://dx.doi.org/10.1016/j.bonr.2023.101663
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