Osteopetrosis in Adults: A case Report

Memuna Abbas; Farnaz Abbas

doi:10.70302/jpsim.v2i3.2155

Case Report

Osteopetrosis in Adults: A case Report

Memuna Abbas

Doctors Hospital Lahore

Farnaz Abbas

Doctors Hospital Lahore

✉ Correspondence: Memuna Abbas

DOI https://doi.org/10.70302/jpsim.v2i3.2155

Volume: 2, Issue 3 Pages: 241–243 Published: 20 Sep 2021

Received: 17 May 2021 Accepted: 07 Aug 2021 Published Online: 20 Sep 2021

Abstract

A young female presented with shortness of breath, palor and abdominal distension. Her investigations showed pancytopenia and hepatosplenomegaly. Her skeletal survey and bone marrow biopsy were strongly suggestive of osteopetrosis.

Keywords

Osteopetrosis Hepatosplenomegaly Pancytopenia

How to Cite This Article

Abbas M, Abbas F. Osteopetrosis in Adults: A case Report. J Pak Soc Intern Med. 2021;2(3):241–243. doi:10.70302/jpsim.v2i3.2155

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Conflict of Interest

All authors declare no competing interests.

Disclosed in accordance with ICMJE and COPE guidelines.

Funding

No specific funding was received for this research.

Funder information follows the Crossref Funder Registry standard.

References

Albers-Schonberg H. Rntgenbilder einer seltenen Knochenkrankung. Munchen Med Wochenschr. 1904;51:365.
Osteopetrosis: Background, Etiology. Medscape. [Updated 2017; cited 2021]. Available from: [http://emedicine.medscape.com/article/123968-overview].
Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4: doi: 10.1186/1750-1172-4-5. doi:10.1186/1750-1172-4-5
Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. JCEM. 2017;102(9):3111-23.
Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010;21(4):611-4.
Superti‐Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007;143(1):1-8.
Kant P, Sharda N, Bhowate RR. Clinical and radiological findings of autosomal dominant osteopetrosis type II: a case report. Case reports in dentistry. 2013; Article ID 707343.

Reference list indexed for Google Scholar and ResearchGate. DOI links resolve via doi.org.

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[1] Albers-Schonberg H. Rntgenbilder einer seltenen Knochenkrankung. Munchen Med Wochenschr. 1904;51:365.

[2] Osteopetrosis: Background, Etiology. Medscape. [Updated 2017; cited 2021]. Available from: [http://emedicine.medscape.com/article/123968-overview].

[3] Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis. 2009;4: doi: 10.1186/1750-1172-4-5. doi:10.1186/1750-1172-4-5

[4] Wu CC, Econs MJ, DiMeglio LA, Insogna KL, Levine MA, Orchard PJ, Miller WP, Petryk A, Rush ET, Shoback DM, Ward LM. Diagnosis and management of osteopetrosis: consensus guidelines from the osteopetrosis working group. JCEM. 2017;102(9):3111-23.

[5] Rajathi M, Austin RD, Mathew P, Bharathi CS, Srivastava KC. Autosomal-dominant osteopetrosis: an incidental finding. Indian J Dent Res. 2010;21(4):611-4.

[6] Superti‐Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A. 2007;143(1):1-8.

[7] Kant P, Sharda N, Bhowate RR. Clinical and radiological findings of autosomal dominant osteopetrosis type II: a case report. Case reports in dentistry. 2013; Article ID 707343.