A RARE CAUSE OF HEPATOSPLENOMEGALY –MALIGNANT INFANTILE OSTEOPETROSIS

Abstract

Osteopetrosis (“marble bone disease”) is a descriptive term that refers to a group of rare, heritable disorders of skeleton characterized by increased bone density on radiographs. It is an uncommon disease of unknown cause. Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure , to the incidental nding of osteopetrosis on radiographs . Osteopetrotic conditions vary greatly in their presentation and severity, ranging from neonatal onset with life-threatening complications such as bone marrow failure (e.g. classic or "malignant" ARO), to the incidental nding of osteopetrosis on radiographs (e.g. osteopoikilosis). The severe infantile forms of osteopetrosis are associated with diminished life expectancy, with most untreated children dying in the rst decade as a complication of bone marrow suppression. A 4 month old male child presented with anemia and hepatosplenomegaly was diagnosed clinically and radiologically as Malignant Infantile Osteopetrosis.