Osteopetrosis: A rare disease with unusual presentation as non-neutropenic typhlitis

Abstract

Osteopetrosis is a rare inherited disorder characterized by the inability to reabsorb and remodel bone due to osteoclast dysfunction. There is a resultant increased bone mass and density with skeletal malformation and bone marrow failure, which may be fatal. There is extramedullary hematopoiesis, which causes hepatosplenomegaly and anemia. In our case, the presentation of typhlitis in osteopetrosis proved to be life-threatening, and hence, the early diagnosis of osteopetrosis will help to improve the management and quality of life of the patient.