UNIQUE PRESENTATION OF OSTEOPETROSIS
Abstract
Osteopetrosis is a rare hereditary disorder of osteoclast dysfunction leading to abnormally dense and sclerotic bones that are fragile and break easily. It can be inherited in various patterns like autosomal-dominant, autosomal-recessive or as X-linked traits, but the most grievous forms of its inheritance are the autosomal-recessive ones, which show early onset and are associated with very poor prognosis. We report here the case of an asymptomatic young boy, who was diagnosed as the case of autosomal recessive osteopetrosis on the basis of his genetic studies. The reason for his unusual asymptomatic disease was the location of mutation in TCIRG1 gene that was revealed from his genetic studies. Another unusual point about him was his survival at this age, which is surprisingly rewarding as patients with autosomal recessive osteopetrosis usually die earlier by the age of 2–3 years.References
Kant P, Sharda N, Bhowate RR. Clinical and Radiological Findings of Autosomal Dominant Osteopetrosis Type II: A Case Report. Case Rep Dent 2013;707343–9.
Sit C, Agrawal K, Fogelman I, Gnanasegaran G. Osteopetrosis: radiological & radionuclide imaging. Indian J Nucl Med 2014;30(1):55–8.
Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res 2009;21(4):611–4.
Essabar L, Meskini T, Ettair S, Erreimi N, Mouane N. Malignant infantile osteopetrosis: case report with review of literature. Pan Afr Med J 2013;17:63.
García CM, García MA, García RG, Gil FM. Osteomyelitis of the Mandible in a Patient with Osteopetrosis. Case Report and Review of the Literature. J Maxillofac Oral Surg 2013;12(1):94–9.
Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4:5.
Yu T, Yu Y, Wang J, Yin L, Zhou Y, Ying D, et al. "Identification of TCIRG1 and CLCN7 gene mutations in a patient with autosomal recessive osteopetrosis." Mol Med Rep 2014;9(4):1191–6.
Loría-Cortés R, Quesada-Calvo E, Cordero-Chaverri C. Osteopetrosis in children: a report of 26 cases. J Pediatr 1977;91(1):43–7.
Lomaga MA, Yeh WC, Sarosi I, Duncan GS, Furlonger C, Ho A, et al. TRAF6 deficiency results in osteopetrosis and defective interleukin-1, CD40, and LPS signaling. Genes Dev 1999;13(8):1015–24.
Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, et al. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet 2000;25(3):343–6.
Tolar J, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med 2004;351(27):2839–49.
Fasth A, Porras O. Human malignant osteopetrosis: pathophysiology, management and the role of bone marrow transplantation. Pediatr Transplant 1999;3(Suppl 1):102–7.
Downloads
Published
Issue
Section
License
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.