Innovative Journal of Pediatrics
The Scientific Journal of Growth & Development Research Center
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A Case Report of Malignant Infantile Osteopetrosis
Author(s):
1Department of Pediatrics, Sisli Etfal Education and Research Hospital, Istanbul, Turkey
2Department of Pediatric Gastroenterology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey
3Department of Pediatric Hematology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey
*Corresponding Author: Department of Pediatrics, Sisli Etfal Education and Research Hospital, Istanbul, Turkey Email: [email protected]
Published online:Sep 30, 2012
Article type:Case Report
Received:Mar 16, 2011
Accepted:Nov 12, 2012
How to Cite:Emral H, Urgancı N, Karaman S, Geylani Gulec S, Usta M, et al. A Case Report of Malignant Infantile Osteopetrosis. Inn J Pediatr. 2015;22(3):. doi:
Abstract
Background: Malignant infantile osteopetrosis (MIOP) presents early in life with extreme sclerosis of the skeleton and reduction of bone marrow spaces. Since there is a defect in the bone marrow, the disease can cause anemia, extramedullary hematopoiesis secondary to anemia leading to hepatosplenomegaly, cranial nerves compression and severe growth failure. This disorder is often lethal within the first decade of life because of secondary infections. Stem cell transplantation (SCT) remains the only curative therapy.
Case Presentation: We report a two-month old male infant, diagnosed as MIOP while investigating the cause of hepatosplenomegaly. The patient was referred for stem cell transplantation.
Conclusion: Malignant infantile osteopetrosis should be kept in mind as a rare cause of hepatosplenomegaly and the patient should be referred for stem cell transplantation before neurologic or visual impairment develops.
References
- 1.References are available in PDF.
Copyright
© 2015, Author(s). This open-access article is available under the Creative Commons Attribution 4.0 (CC BY 4.0) International License (https://creativecommons.org/licenses/by/4.0/), which allows for unrestricted use, distribution, and reproduction in any medium, provided that the original work is properly cited.
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