Bone Reports (Jun 2023)
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
- 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
Affiliations
- Maria Ochoa
- The 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, Canada
- Ashlee Yang
- Department of Pediatrics, Division of Endocrinology, University of Alberta, Edmonton, Alberta, Canada
- Carrie Kollias
- Royal Children's Hospital Melbourne, Melbourne, Australia; Murdoch Children's Research Institute, Melbourne, Australia
- Christina Bakir
- Department of Orthopedic Surgery, Chinook Regional Hospital, Lethbridge, Alberta, Canada
- Sasha Carsen
- The 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, Canada
- Joanna Lazier
- Department of Medical Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada
- A. Micheil Innes
- Department of Medical Genetics, Alberta Children's Hospital, Calgary, Alberta, Canada
- Marika Pagé
- The 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, Canada
- Jonathan Dawrant
- Department of Pediatrics, Division of Endocrinology, University of Calgary, Calgary, Alberta, Canada
- Marie-Eve Robinson
- The 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
- Khaldoun Koujok
- The 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, Canada
- Nazih Shenouda
- The 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, Canada
- Frank Rauch
- Shriners Hospital for Children, McGill University, Montreal, Quebec, Canada
- Leanne M. Ward
- The 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.
- Journal volume & issue
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Vol. 18
p. 101663
Abstract
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.
