A Case Report of Malignant Infantile Osteopetrosis

Hicran Emral; Nafiye Urgancı; Serap Karaman; Seda Geylani Gulec; Merve Usta; Ela Erdem

IJ Pediatrics

The Scientific Journal of Growth & Development Research Center

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A Case Report of Malignant Infantile Osteopetrosis

Author(s):

Hicran Emral¹,

Nafiye Urgancı²,

Serap Karaman³,

Seda Geylani Gulec¹,

Merve Usta²,

Ela Erdem^1,*

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

IJ Pediatrics:Vol. 22, issue 3; 421-424

Published online:Sep 30, 2012

Article type:Case Report

Received:Mar 16, 2011

Accepted:Nov 12, 2012

How to Cite:Hicran EmralNafiye UrgancıSerap KaramanSeda Geylani GulecMerve UstaEla Erdemet al.A Case Report of Malignant Infantile Osteopetrosis.Iran J Pediatr.22(3):421-424.

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.

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