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Case: Two patients with osteopetrosis underwent conversion total hip arthroplasty (THA) after failure of internal fixation due to hip fractures. We experienced challenges, including difficulty of hardware removal, remaining of previous broken screws in the canal, difficulty in finding the femoral canal, and an intraoperative acetabulum fracture. Despite complications, both patients achieved satisfactory functional outcome after surgery at the latest follow-up.
Conclusion: Our cases showed that previous hip fracture and failed internal fixation make conversion THA more complex and unpredictable in patients with osteopetrosis. This in turn underscores the critical need for advanced preoperative planning, intraoperative flexibility, and meticulous postoperative care.
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http://dx.doi.org/10.2106/JBJS.CC.23.00583 | DOI Listing |
Calcif Tissue Int
September 2025
Department of Endocrinology, Post-Graduate Institute of Medical Education and Research (PGIMER), 001, Nehru Extension Block, Chandigarh, India.
Rare diseases, defined by the 2002 Rare Disease Act, affect fewer than 5 in 10,000 individuals. Rare metabolic bone diseases (MBDs), such as osteogenesis imperfecta, hypophosphatasia, osteopetrosis, and other unclassified disorders, can disrupt bone development and remodeling, posing diagnostic and management challenges. This study analyzed data from the rarembd.
View Article and Find Full Text PDFJ Bone Miner Res
September 2025
Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, United States.
Autosomal Dominant Osteopetrosis (ADO) is a rare, osteosclerotic disorder usually caused by missense variants in the CLCN7 gene, resulting in impaired osteoclastic bone resorption. Penetrance is incomplete and disease severity varies widely, even among relatives within the same family. Although ADO can cause visual loss, osteonecrosis, osteomyelitis, and bone marrow failure, the most common complication of ADO is fracture.
View Article and Find Full Text PDFCurr Osteoporos Rep
September 2025
NIHR Cambridge Biomedical Research Centre, Department of Medicine, Addenbrooke's Hospital, University of Cambridge, Cambridge, United Kingdom.
Purpose Of Review: In this review, we will examine the pathophysiology, anatomy, biochemistry, and genotype-phenotype correlation of femoral fractures in adult hypophosphatasia.
Recent Findings: Hypophosphatasia (HPP) is a rare genetic disease characterized by low activity of tissue-nonspecific alkaline phosphatase (TNAP). The disease presents a broad spectrum of clinical manifestations primarily determined by the degree of residual TNAP activity.
Hip Pelvis
September 2025
Department of Orthopedic Surgery, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
This study presents a case report of a 54-year-old female patient with osteopetrosis who experienced re-fracture after undergoing osteosynthesis for a femoral shaft fracture. The patient visited our emergency department for a right distal femur fracture. The patient had undergone surgery for a right femoral shaft fracture six years prior to this visit, at which time osteopetrosis was diagnosed at another medical facility.
View Article and Find Full Text PDFVet Med Sci
September 2025
MedVet Chicago, Chicago, Illinois, USA.
Case Summary: A 5-year-old neutered male domestic medium-hair cat was referred to the internal medicine department with upper respiratory signs and limb pain. Computed tomography (CT) revealed diffuse osteosclerosis, showing severe osseous thickening of the nasal turbinates and near-occlusion of the nasal passages. No new or healed fractures were observed.
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