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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 22, No. 3, 2012, pp. 421-424
Bioline Code: pe12076
Full paper language: English
Document type: Case Report
Document available free of charge

Iranian Journal of Pediatrics, Vol. 22, No. 3, 2012, pp. 421-424

 en A Case Report of Malignant Infantile Osteopetrosis
Usta, Merve; Gulec, Seda Geylani; Karaman, Serap; Erdem, Ela; Emral, Hicran & Urgancı, Nafiye


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.

Osteopetrosis; Infant; Hepatomegaly; Splenomegaly

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