The role of whole-body bone scintigraphy in a case of osteopetrosis

Barral, Carlyle Marques; Andrade, Gabriel Soares de; Ferreira, Maria José Martins; Lourenço, Marian Beatrice dos Santos; Sanches, Sandra Monetti Dumont; Nunes, Shirleide Santos; Freitas, Stephanie Saliba de; Marino, Viviane Santuari Parisotto

doi:10.1016/j.ejrnm.2014.06.008

Cited by 2 publications

(2 citation statements)

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“…2 A), as well as ‘bone in bone’ appearance of vertebrae and phalanges is seen [ 1 ]. Whole body bone scintigraphy has been suggested as a method of diagnosis and assessment [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

“…Erythropoietin may be used to correct anemia and gamma-interferon to delay disease progression and improve of white blood cell function. Allogenic bone marrow transplant may be used to reverse autosomal recessive form of OP [ 14 ]. Given the severity of infantile OP hematopoietic stem cell transplant (HSCT) has been suggested at an early age for patients.…”

Section: Discussionmentioning

confidence: 99%

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Inheritance patterns, challenges, and outcomes of fracture management in osteopetrosis patients. CASE series and review of pertinent literature

Hasan

Pathan

Naqi

et al. 2018

Annals of Medicine and Surgery

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BackgroundOsteopetrosis (OP) is a group of rare inheritable genetic disorders which show increased bone radiodensity on radiography. As no cure exists, careful symptomatic treatment is the mainstay in management due to brittle bone and frequent complications. We would like to present a case series of OP patients, their management, a review of literature about this rare disease and its genetic and inheritance patterns.Materials and methodsRetrospective case series of 6 patients with OP seen at our institution from 2010 to January 2018. We searched PubMed and Google Scholar for articles using the following keywords: Osteopetrosis, Radiology, Fracture and Management to review literature.Cases presentationWe present 6 cases of OP each showing diverse history of frequent fractures and describe the challenges faced during management and the long-term follow-up results.ResultsAbnormal osteoclast activity in OP results in defective bone resorption with patients having varied clinical presentations. Bones are brittle, increasing risk of fractures. Osteosynthesis is the recommended first-choice treatment for osteopetrotic fractures despite the risk of failure. Good preoperative planning is critical. Genetic studies showed multiple genes to be involved and varied patterns of inheritance in different types of OP. Conservative management could including varied therapies has also been proposed.ConclusionWith all-inclusive preoperative planning and careful postoperative care surgical treatment of fractures in OP is effective. The cases presented showed that plate osteosynthesis and intramedullary nailing are suitable options. Genetic factors and inheritance pattern should be discussed with patients.

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“…2 A), as well as ‘bone in bone’ appearance of vertebrae and phalanges is seen [ 1 ]. Whole body bone scintigraphy has been suggested as a method of diagnosis and assessment [ 14 ].…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%