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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
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Bioline Code: pe12076
Full paper language: English
Document type: Case Report
Document available free of charge
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Iranian Journal of Pediatrics, Vol. 22, No. 3, 2012, pp. 421-424
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A Case Report of Malignant Infantile Osteopetrosis
Usta, Merve; Gulec, Seda Geylani; Karaman, Serap; Erdem, Ela; Emral, Hicran & Urgancı, Nafiye
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.
Keywords
Osteopetrosis; Infant; Hepatomegaly; Splenomegaly
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© Copyright 2012 - Iranian Journal of Pediatrics Alternative site location: http://diglib.tums.ac.ir/pub/
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