Osteopetrosis: A Case Report

Osteopetrosis, also called as “marble bone”, “stone bone” or “Albers-Schönberg disease” is a very rare hereditary entity. In this disease, the balance between bone-forming osteoblasts and bone resorbing osteoclasts is altered. Our patient was an 8-year-old girl who was diagnosed with osteopetrosis and followed by the pediatric hematology department. She has been referred to our hospital several times with the complaints of cough, fatigue and hip and leg pain. X-ray examinations showed typical signs of osteopetrosis. The patient also had anemia, thrombocytopenia and hepatosplenomegaly and received blood transfusions several times. In these patients, usually the sign of sclerotic bone detected by x-ray establishes the diagnosis. Our patient had anemia, hepatosplenomegaly and loss of vision in addition to the typical radiologic signs. In newborns, the diagnosis of osteopetrosis can be established if osteosclerosis is associated with widening of the long bones. Since the signs were prominent in the newborn period, our patient was assumed to have autosomal recessive (OR) form of the disease which has a poorer prognosis. In conclusion, anemia, thrombocytopenia, and hepatosplenomegaly, which are common, but are not specific signs, must suggest osteopetrosis when sclerosis of bone accompanies and, the child must be given a chance for bone marrow transplantation