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Case Report 


Malignant infantile osteopetrosis with cleft lip—a case report

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind.

Abstract
Malignant infantile osteopetrosis (MIOP), a rare congenital disorder of bone resorption, is caused by the failure of osteoclasts to reabsorb immature bones. We report a 3-month-old female child with cleft lip who was referred to the pediatric department for consultation. She was born to consanguineous parents, and the elder sibling expired at the age of 3 years owing to recurrent respiratory tract infections and hydrocephalus. On examination, we found pallor and hepatosplenomegaly. On follow-up, we came to know that she exhibited delayed developmental history and bilateral optic atrophy. Skeletal radiographs showed dense bones with “bone-in-bone” appearance. The overall clinical features and radiological findings of these patients were sufficient to arrive at the diagnosis of MIOP.

Key words: Osteopetrosis, optic atrophy, pallor, radiological findings


 
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REFERENCES
1. Albers-Schönberg HE. Röntgenbilder einer seltenen Knockenerkrankung. Munch Med Wochenschr 2005;5:365-68.
2. Gerritsen EJ, Vossen JM, van Loo IH, Hermans J, Helfrich MH, Griscelli C, et al. Autosomal recessive osteopetrosis: variability of findings at diagnosis and during the natural course. Pediatrics 1994;93(2):247-53. [Pubmed]   
3. Engiz O, Kara S, Bagrul D, Lahr G, Alioglu B, Arikan I, et al. Infantile malignant osteopetrosis: a rare cause of neonatal hypocalcemia. J Pediatr Endocrinol Metab 2012;25(11-12):1205-7. [DOI via Crossref]    [Pubmed]   
4. Kurtoglu S, Hatipoglu N, Canpolat M, Altunay C. Malignant infantile osteopetrosis presenting with neonatalypocalcemia. Erciyes Med J 2009;31(1):70-3.
5. Jakub T, Teitelbaum SL, Orchard PJ. Osteopetrosis. N Engl J Med 2004;351(27):2839-49. [DOI via Crossref]    [Pubmed]   
6. Al-Tamimi YZ, Tyagi AK, Chumas PD, Crimmins DW. Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatr 2008;1(1):103-6. [DOI via Crossref]    [Pubmed]   
7. Steward CG. Neurological aspects of osteopetrosis. Neuropathol Appl Neurobiol 2003;29(2):87-97. [DOI via Crossref]    [Pubmed]   
8. Arun S, Singh A, Chavan M. Autosomal recessive osteopetrosis: case report of two siblings. Oral Radiol 2008;24(2):80-4. [DOI via Crossref]   
9. Glorieux FH, Pettifor JM, Jüppner H (Eds.). Pediatric Bone: Biology and Diseases. California: Academic Press, 2003. p. 477. ISBN: 978-0-12-382040-2.
10. Stark Z, Savarirayan R. Osteopetrosis. Orphanet J Rare Dis 2009;4(1):5. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
11. Del Fattore A, Cappariello A, Teti A. Genetics, pathogenesis and complications of osteopetrosis. Bone 2008;42(1):19-29. [DOI via Crossref]    [Pubmed]   
12. Ahmad I, Abbas SZ, Haque F, Rashid M, Ahmad SA. Osteomyelitis of mandible—a rare presentation of osteopetrosis. Indian J Radiol Imaging. 2006;16(2):253-6. [DOI via Crossref]   
13. Essabar L, Meskini T, Ettair S, Erreimi N, Mouane N. Malignant infantile osteopetrosis: case report with review of literature. Pan Afr Med J 2014;17:63. [DOI via Crossref]    [Pubmed]    [PMC Free Fulltext]   
14. Kapelushnik J, Shalev C, Yaniv I, Aker M, Carmi R, Cohen Z, et al. Osteopetrosis. A single centre experience of stem cell transplantation and prenatal diagnosis. Bone Marrow Transplant 2001,27(2):129-32. [DOI via Crossref]    [Pubmed]   
15. Ogur G, Ogur E, Celasun B, Baser I, Imirzalioglu N, Ozturk T, et al. Prenatal diagnosis of autosomal recessive osteopetrosis, infantile type, by X-ray evaluation. Prenat Diagn 1995;15(5):477-81. [DOI via Crossref]    [Pubmed]   

How to Cite this Article
Pubmed Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. Malignant infantile osteopetrosis with cleft lip—a case report. Int J Med Sci Public Health. 2015; 4(12): 1784-1787. doi:10.5455/ijmsph.2015.04052015345


Web Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. Malignant infantile osteopetrosis with cleft lip—a case report. http://www.ijmsph.com/?mno=188736 [Access: October 18, 2019]. doi:10.5455/ijmsph.2015.04052015345


AMA (American Medical Association) Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. Malignant infantile osteopetrosis with cleft lip—a case report. Int J Med Sci Public Health. 2015; 4(12): 1784-1787. doi:10.5455/ijmsph.2015.04052015345



Vancouver/ICMJE Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. Malignant infantile osteopetrosis with cleft lip—a case report. Int J Med Sci Public Health. (2015), [cited October 18, 2019]; 4(12): 1784-1787. doi:10.5455/ijmsph.2015.04052015345



Harvard Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind (2015) Malignant infantile osteopetrosis with cleft lip—a case report. Int J Med Sci Public Health, 4 (12), 1784-1787. doi:10.5455/ijmsph.2015.04052015345



Turabian Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. 2015. Malignant infantile osteopetrosis with cleft lip—a case report. International Journal of Medical Science and Public Health, 4 (12), 1784-1787. doi:10.5455/ijmsph.2015.04052015345



Chicago Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. "Malignant infantile osteopetrosis with cleft lip—a case report." International Journal of Medical Science and Public Health 4 (2015), 1784-1787. doi:10.5455/ijmsph.2015.04052015345



MLA (The Modern Language Association) Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind. "Malignant infantile osteopetrosis with cleft lip—a case report." International Journal of Medical Science and Public Health 4.12 (2015), 1784-1787. Print. doi:10.5455/ijmsph.2015.04052015345



APA (American Psychological Association) Style

Pabbati Jayalakshmi, Preethi Subramaniam, Regina Divya, Aravind (2015) Malignant infantile osteopetrosis with cleft lip—a case report. International Journal of Medical Science and Public Health, 4 (12), 1784-1787. doi:10.5455/ijmsph.2015.04052015345





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