A rare case of osteopetrosis
DOI:
https://doi.org/10.33448/rsd-v14i7.49269Keywords:
Osteopetrosis, Pediatrics, Early diagnosis, Health teaching.Abstract
Osteopetrosis is a rare, hereditary osteopathy that leads to an abnormality in bone density due to erratic osteoclastic resorption, which can also compromise neurological and hematological functions and even lead to growth retardation. It is usually diagnosed in the first decade of life, and bone fractures tend to be present at its initial manifestation. Objective: To report the evolution of a 3-month-old patient with thrombocytopenia, hypotonia, seizures, and malnutrition, initially to be clarified, until the diagnosis of osteopetrosis and clinical outcome. Methods: Data will be obtained from electronic and paper medical records. The study was approved by the Research Ethics Committee at the hospital of origin and did not require the Informed Consent Form (ICF), given that the patient was socially vulnerable and had been placed under state guardianship. This is an observational, descriptive study, without a control group, in the form of a clinical case report. Results/Conclusion: Its scientific relevance lies in the importance of reporting a rare case whose early diagnosis directly affects its prognosis, since definitive treatment includes bone marrow transplantation.
References
Arruda, M.; Coelho, M. C. A, Moraes, A. B, de Paula Paranhos-Neto, F, Madeira, M, Farias, M. L. F, Vieira, Neto L. (2016). Bone mineral density and microarchitecture in patients with autosomal dominant osteopetrosis: a report of two cases. J Bone Miner Res. 2016;31(3), 657–662.
Athar, S. B. A, Andrade, R. S, & Bremgartner, J. T. L. (2012). Osteopetrose infantil: relato de caso. Revista Paraense de Medicina, 26(1).
Bernardi, M. S, et al. (2020). Osteopetrose maligna infantil: relato de caso. Boletim Científico de Pediatria, 8(1).
Borsato, M. L. et al. (2008). Osteopetrosemaligna:transplantedemedulaóssea.RevistaBrasileiradeHematologiaeHemoterapia, 30(2), 168-171,2008.
Calvin, C. W. et al. (2017). Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group. J Clin Endocrinol Metab, September, 2017.
Dunphy, L, Warfield, A. & Williams, R. (2019). Osteomyelitis of the mandible secondary to malignant infantil e osteopetrosis in an adult. BMJ Case Reports. 2019.
Econs, M. J. (2012). Osteopetrosis Overview. The National Institutes of Health Osteoporosis and Related Bone Diseases – National Resource Center, 1(12).7828, 2012.
Freire, F. M.; et al. (2001). Osteopetrose A propósito de um caso clínico. Revista Portuguesa de Otorrinolaringologia, 39(1).73-83, 2001.
Gaytán-Morales, J. F, Castorena-Villa, I, Mendoza-Camargo, F. O, Cortés-Flores, D. C, Gómez-Domíguez, Y. A, Montenegro-Chahar, P. D, García-Maldonado P, & Parra-Ortega, I. (2021). Hematopoietic stem cell transplantation in a patient with osteopetrosis and mutation in CLCN7: long-term follow-up. Bol Med Hosp Infant Mex. 2021 Mar 2;78(3), 225-233.doi: 10.24875/BMHIM.20000105. PMID: 33651788.
James, R. B. & David, C. T. (2023). Osteopetrosis. Article, National Library of Medicine, EUA, 2023.
Pereira, A. S. et al. (2018). Metodologia da pesquisa científica. [free e-book]. Editora UAB/NTE/UFSM. 2018.
Satomura, K, Kon, M, Tokuyama, R, Tomonari, M, Takechi, M, Yuasa, T. et al. (2017). Osteopetrosiscomplicated by osteomyelitis of the mandible: a case report including characterization of theosteopetrotic bone. International Journal of Oral and Maxillofacial Surgery, 2017.
Schulz, A, Moushous, D, Steward, C. G, Villa, A, Sobacchi, C. (2015). Osteopetrosis: consensus guidelines for diagnosis, therapy and follow up. 2015.
Shapiro, G et al. (2020). Skeletal Changes After Hematopoietic Stem Cell Transplantation in Osteopetrosis, Journal of Bone and Mineral Research, 35(9). 1 September 2020.
Shadur, B. et al. (2018). Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning. Pediatric Blood And Cancer, 65(6), 2018.
Simões, B. C. P, Fernandes, I. B. T. F, Vianna, D. T. V., Silva, E. C. S, Vin, C. L. (2024). Osteopetrose maligna da infância: relato de caso. Instituo de Puericultura e Pediatria Martagão Gesteira (IPPMG). Universidade Federal do Rio de Janeiro (UFRJ), Rio de Janeiro, Brasil, 2024.
Sobacchi, C, Schulz, A, Coxon, F. P, Villa, A, Helfrich, M. H. (2013). Osteopetrose: genética, tratamento e novos insights sobre a função dos osteoclastos. Nat Rev Endocrinol. 2013.
Toassi, R. F. C. & Petry, P. C. (2021). Metodologia científica aplicada à área da Saúde. (2ed). Editora da UFRGS. 2021.
Vanhoenacker, F. M. et al. (2000). Bilateral acromial fractures in na infant with ma-lignant osteopetrosis. Clin. Radiol., 55(1), 70-72, Jan. 2000.
Yadav, S. et al. (2016). Osteopetrosis intwosiblings:twocasereports.BMCResearch Notes, 9(55), 2016.
Yin, R. K. (2024). Case Study Research and Applications: Design and Methods (7th ed.). Sage Publications. 2024.
Downloads
Published
Issue
Section
License
Copyright (c) 2025 Maria Osana da Silva Antônio Filho; Liane de Rosso Giuliani; Gabriel Gouveia Coelho de Moraes; Alexandre da Silva Leopoldino; Isabelly Costa Machado Golfeto; Michelle Oliveira Iwata
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
