A Case Report of Malignant Infantile Osteopetrosis


Hicran Emral 1 , Nafiye Urgancı 2 , Serap Karaman 3 , Seda Geylani Gulec 1 , Merve Usta 2 , Ela Erdem 1 , *

1 Department of Pediatrics, Sisli Etfal Education and Research Hospital, Istanbul, Turkey

2 Department of Pediatric Gastroenterology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey

3 Department of Pediatric Hematology, Sisli Etfal Education and Research Hospital, Istanbul, Turkey

How to Cite: Emral H, Urgancı N, Karaman S, Geylani Gulec S, Usta M, et al. A Case Report of Malignant Infantile Osteopetrosis, Iran J Pediatr. 2015 ; 22(3):421-424.


Iranian Journal of Pediatrics: 22 (3); 421-424
Published Online: September 30, 2012
Article Type: Case Report
Received: March 16, 2011
Accepted: November 12, 2012


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.




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