Anemia with massive splenomegaly an uncommon presentation of osteopetrosis in adult

Osteopetrosis was first described by a Germen radiologist Albers - Schoenberg in 1904. It is characterized by excessive density of bones leading to typical "chalk bone" appearance on skiagram. There is a defect in the osteoclastic activity which leads to failure in remodeling of the developing bone. This excessive formation of bone with defective osteoclastic activity leads to mechanically weak bone. So, fractures on minor trauma are common presentation of the disease. Obliteration of marrow cavities leads to development of secondary anemia which is a feature of infantile form of osteopetrosis (malignant osteopetrosis), usually seen in infants and early childhood. Adult form of osteopetrosis known as benign osteopetrosis may remain asymptomatic and causes delay in the early diagnosis of it. Anemia and massive splenomegaly in adult is a very uncommon presentation of the osteopetrosis, as seen in this interesting case which we are discussing further in detail.