Plethora of Characteristic Findings in Osteopetrosis: A Case Report

Osteopetrosis, a rare genetic disorder, presents in two major forms: Autosomal recessive and autosomal dominant osteopetrosis. This disorder is characterized by loss of osteoclastic activity, which results in increased bone density. In this case, an 8-month-old female presented with acute respiratory distress, hepatosplenomegaly, anemia, and frontal bossing. Diagnosis was established based on characteristic radiological findings, including the classic “bone-in-bone” appearance. In infants presenting with anemia and hepatosplenomegaly, osteopetrosis should be considered a differential diagnosis. Early diagnosis through genetic typing and treatment with hematopoietic stem cell transplantation may prevent life-threatening complications.

Keywords: Bone-in-bone, hepatosplenomegaly, osteopetrosis