Osteopetrosis masquerading as hereditary hemolytic anemia: A case report of a 13-year-old girl with massive splenomegaly

Osteopetrosis is a rare skeletal disorder caused by osteoclast dysfunction. Here, we present a 13-year-old girl with a 7-month history of abdominal lump and weakness, first considered to have hereditary hemolytic anemia due to significant splenomegaly, hepatomegaly, pallor, and jaundice. Radiographs demonstrated diffuse osteosclerosis with a ''bone-within-bone'' appearance, while a bone marrow trephine biopsy revealed sclerotic trabeculae with reduced marrow space, validating osteopetrosis. This example emphasizes the significance of radiographic and histopathological correlation and illustrates how osteopetrosis can mimic hereditary hemolytic anemia.