ABSTRACT

Malignant infantile osteopetrosis is a rare autosomal recessive disorder characterized by defective osteoclastic bone resorption. Main findings are hepatosplenomegaly, anemia, and susceptibility to infections, growth failure and generalized osteosclerosis. Although it is possible to diagnose malign infantile osteopetrosis in neonatal period, the exact diagnosis is usually delayed due to the rarity of the disease and nonspecifity of the symptoms. A 33 days old girl admitted to our clinic with vomiting, growth failure, hepatosplenomegaly, anemia, thrombocytopenia and leukocytosis has been diagnosed as malignant infantile osteopetrosis. We want to emphasize the characteristic findings of this rare disease and importance of early diagnosis by presenting this case.