Malignant Infantile Osteopetrosis

Background: Malignant infantile osteopetrosis (MIOP) is an autosomal recessive disorder which is characterized by densely sclerotic bone due to defective function of osteoclasts. Overgrowth of bone results in nerve compression and reduction of marrow spaces. It may be complicated by rickets. The main genetic causes are the mutations in the TCIRG1 and CLCN7 genes. Stem cell transplantation offers the only hope for cure. Early diagnosis is of prime importance. Case Presentation: We report a four month old female infant, who was diagnosed to have MIOP while being evaluated for raised total count, thrombocytopenia, hepatosplenomegaly and optic atrophy. An infantogram helped us clinch the diagnosis as she had most of the radiological signs that have been described. She was also found to have co-existent rickets. Mutation analysis and hematopoietic stem cell transplantation were deferred by her parents due to financial constraints. Conclusion: MIOP should be kept in mind when the patient presents with hematological abnormalities such as anemia, thrombocytopenia and leukemoid reaction along with hepatosplenomegaly and optic atrophy. Our case is worthy of mention, because a high index of suspicion and meticulous interpretation of the infantogram helped us arrive at the diagnosis.