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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

ABSTRACT: The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. This current case report describes the important clinical aspects of osteogenesis imperfecta that must be considered during the planning and performance of a total knee replacement. A 62-year-old female patient with a history of osteogenesis imperfecta suffered from severe osteoarthritis of the knee with valgus deformity. Two years after posterior stabilized total knee arthroplasty, her Hospital for Special Surgery knee score had improved from preoperative 53 points to 85 points at the final follow-up. The current case report describes the crucial technical aspects of a successful total knee replacement in this uncommon scenario. Underlying deformities and concomitant pathologies constitute specific surgical challenges. Special care should be taken to protect the patient from potential complications.

SUBMITTER: Sponer P

PROVIDER: S-EPMC9152202 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

Sponer Pavel P Korbel Martin M Kucera Tomas T

The Journal of international medical research 20220501 5

The majority of adults with mild osteogenesis imperfecta report significant functional impairment due to musculoskeletal concerns. Knee osteoarthritis is common in these patients. Although total knee arthroplasty has become a highly efficient surgical technique for osteoarthritis, this procedure remains uncommon in patients with osteogenesis imperfecta. This current case report describes the important clinical aspects of osteogenesis imperfecta that must be considered during the planning and per ...[more]

PMID: 35615788

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Project description:PurposeMetaphyseal corner fractures and posterior rib fractures are thought to only occur in settings of inflicted injury. We describe a case of siblings who presented with metaphyseal corner fractures and multiple posterior rib fractures who were later found to carry FKBP10 mutations, a rare cause of Osteogenesis Imperfecta (OI) known as Bruck syndrome. This clinical presentation led to a literature review examining fracture types in OI and inflicted injury.CasesA 15-month-old male presented with multiple healing fractures of varying ages including posterior rib and metaphyseal corner fractures with no history of significant trauma. He had joint laxity, short stature and Wormian bones. His diagnosis of Bruck Syndrome led to investigations in his sibling at birth, which demonstrated the same fracture pattern including multiple posterior rib and metaphyseal corner fractures. They both had pathogenic compound heterozygous FKBP10 variants.Literature review and resultsWe performed a literature review evaluating the fracture pattern in cases investigated for inflicted injury and found to have OI. Fourteen articles reported 78 children with OI initially diagnosed as inflicted injury. Of these children, 71 (91%) were diagnosed with milder forms of OI (Sillence type I and IV). Sixty-four children (81%) had clinical signs of OI including blue sclera, dentinogenesis imperfecta, short stature, joint laxity and limb bowing. Fifteen (19%) children had fractures of high specificity for inflicted injury including metaphyseal corner fractures and posterior rib fractures and 58 (74%) had fractures of moderate specificity for inflicted injury such as bilateral fractures and fractures of different ages.ConclusionMetaphyseal corner fractures and posterior rib fractures are highly associated with inflicted injury, but they have been reported in children with OI. Bruck syndrome, a rare and severe form of OI can present with metaphyseal and posterior rib fractures, including at birth. When features of OI are present in children with metaphyseal corner fractures and/or posterior rib fractures are present, genetic testing may be warranted.

Project description:IntroductionOsteogenesis imperfecta is a rare inherited connective tissue disorder that results in excessive bone fragility due to defects in collagen production. The majority of osteogenesis imperfecta cases are inherited in an autosomal dominant pattern, and 17 genetic causes have been identified. Diagnosis is usually based on clinical presentation and low bone mineral density scores, while treatment involves a multidisciplinary approach using medical therapies such as bisphosphonates, vitamin C, and pamidronate. Recent research has also explored new therapies, including teriparatide, denosumab, and allele-specific silencing (Edelu et al. in Ann Med Health Sci Res 4(Suppl 1):S1-5, 2014; Bastos et al. in Einstein (São Paulo) 8:480-2, 2010; Van Dijk and Sillence in Am J Med Genet A 164A(6):1470-81, 2014; Subramanian and Viswanathan in Osteogenesis Imperfecta. In: StatPearls. Treasure Island (FL): StatPearls Publishing. http://www.ncbi.nlm.nih.gov/books/NBK536957/ . Accessed 2 Mar 2023, 2022).Case presentationA 3-week-old female neonate of African ethnicity was delivered at term by emergency C-section due to two previous scars. The baby had an APGAR score of 7 at 5 minutes and a birth weight of 2.5 kg. The neonate had short and deformed limbs, a soft head, and bluish eyes. The neonate was diagnosed with osteogenesis imperfecta on the basis of clinical examination findings and radiological investigations, which showed multiple bony discontinuities at variable stages of healing in the limbs and ribs. The neonate was managed with supplemental oxygen by nasal prongs and intravenous antibiotics but unfortunately passed away before being reviewed by the orthopedic team.ConclusionThis case report underscores the importance of early diagnosis of osteogenesis imperfecta and highlights the need for increased clinical awareness, specialized training, and resource allocation to improve outcomes for patients with rare genetic disorders in low-resource settings.

Project description:Delayed type hypersensitivity (DTH) reactions are considered infrequent complications in arthroplasty, but have been recognized to be associated with devastating morbidity and substantial decrease in quality of life of affected patients. Chronic inflammation of artificial joints and associated loss of peri-implant bone often require revision surgery. Methods for the diagnosis of implant-related DTH are available but infrequently considered to the full extent. Sequential diagnostics based on exclusion of septic complications, local and systemic metal level determination, lymphocyte transformation testing (LTT), and local T cell subset analysis are required for an unequivocal DTH diagnosis. Here, we report on a patient with a history of chronic rheumatoid arthritis and an unfavorable outcome of unilateral knee arthroplasty. This case illustrates pitfalls and difficulties in the course of recurrent inflammation following joint replacement. In the early course, suspicion of low-grade bacterial infection led to three two-stage revisions. Afterwards, the joint was proven to be sterile. However, metal level quantification revealed release of especially cobalt and chromium from the joint, LTT indicated persisting cobalt and nickel sensitization and subset analysis of T cells from the synovium suggested DTH as a root cause for the inflammatory symptoms. This report aims to recommend the depicted diagnostic algorithm as an adequate tool for future DTH detection. Yet, systemic to local subset ratios for effector memory and regulatory T cells should be derived from sufficient patient numbers to establish it as a diagnostic marker. Moreover, future prospects regarding implant-related DTH diagnostics are discussed. Therapeutic options for the portrayed patient are proposed, considering pharmaceutical, cell-therapeutic and surgical aspects. Patients who experience peri-implant inflammation but do not have obvious mechanical or infectious problems remain a diagnostic challenge and are at high risk of being treated inadequately. Since potentially sensitizing materials are regularly used in arthroplasty, it is essential to detect cases of acute DTH-derived inflammation of an artificial joint at early postoperative stages. This would reduce the severity of inflammation-related long-term consequences for affected patients and may avoid unnecessary revision surgery.

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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

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Challenges of total knee arthroplasty in osteogenesis imperfecta: case report and literature review.

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