The occurrence of malignant infantile osteopetrosis is observed in early stages of life along with increased sclerosis of the skeleton and decreased bone marrow spaces. The bone marrow damage of the disease leads to anemia, extramedullary hematopoiesis secondary to anemia, which result in hepatosplenomegaly, cranial nerves compression (optic nerve atrophy), and severe growth failure. The characteristic symptoms of the disease are fractures, visual damage, and bone marrow failure resulting in severe anemia. A 4-month-old infant presented with severe anemia and hepatosplenomegaly, bilateral optic atrophy, and acute respiratory tract infection. It was first thought to be hemolytic anemia or intrauterine infection. Radiological features, bone marrow studies, and clinical progression clinched the diagnosis of malignant infantile osteopetrosis. As it is a rare cause of severe anemia, clinicians should have sufficient idea about it.
Key words: Osteopetrosis, anemia, optic atrophy, hepatosplenomegaly
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