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,...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2023-06-01
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| Series: | Bone Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2352187223000116 |
| _version_ | 1797798071111778304 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Maria Ochoa |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-03-13T03:57:57Z |
| format | Article |
| id | doaj.art-60811d835fcf43cc96c2f7f728bb368d |
| institution | Directory Open Access Journal |
| issn | 2352-1872 |
| language | English |
| last_indexed | 2024-03-13T03:57:57Z |
| publishDate | 2023-06-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Bone Reports |
| spelling | doaj.art-60811d835fcf43cc96c2f7f728bb368d2023-06-22T05:03:13ZengElsevierBone Reports2352-18722023-06-0118101663From “ACAN” to “I CAN”: Restoring wellness in a boy with severe osteochondritis dissecans through diagnostic precision combined with optimal medical, surgical and rehabilitation managementMaria Ochoa0Ashlee Yang1Carrie Kollias2Christina Bakir3Sasha Carsen4Joanna Lazier5A. Micheil Innes6Marika Pagé7Jonathan Dawrant8Marie-Eve Robinson9Khaldoun Koujok10Nazih Shenouda11Frank Rauch12Leanne M. Ward13The Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Endocrinology Unit, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaDepartment of Pediatrics, Division of Endocrinology, University of Alberta, Edmonton, Alberta, CanadaRoyal Children's Hospital Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, AustraliaDepartment of Orthopedic Surgery, Chinook Regional Hospital, Lethbridge, Alberta, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Surgery, University of Ottawa, Division of Pediatric Orthopedic Surgery, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaDepartment of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaDepartment of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaDepartment of Pediatrics, Division of Endocrinology, University of Calgary, Calgary, Alberta, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Pediatrics, University Of Ottawa, Division of Endocrinology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Medical Imaging, University of Ottawa, Division of Pediatric Radiology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Medical Imaging, University of Ottawa, Division of Pediatric Radiology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, CanadaShriners Hospital for Children, McGill University, Montreal, Quebec, CanadaThe Ottawa Pediatric Bone Health Research Group, Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada; Department of Pediatrics, University Of Ottawa, Division of Endocrinology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Pediatric Genetic and Metabolic Bone Disorders Program, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada; Corresponding author at: Tier 1 Clinical Research Chair in Pediatric Bone Disorders, University of Ottawa and Pediatric Endocrinologist Division of Endocrinology and Metabolism, Children's Hospital of Eastern Ontario, 401 Smyth Road, Ottawa, Ontario KIH 8L1, Canada.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.http://www.sciencedirect.com/science/article/pii/S2352187223000116Osteochondritis dissecansACANShort statureSubchondral fractureBisphosphonate |
| spellingShingle | 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 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 Bone Reports Osteochondritis dissecans ACAN Short stature Subchondral fracture Bisphosphonate |
| 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 | Osteochondritis dissecans ACAN Short stature Subchondral fracture Bisphosphonate |
| url | http://www.sciencedirect.com/science/article/pii/S2352187223000116 |
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