Malignant Infantile Osteopetrosis in a Filipino Child

Abstract

We present a female infant who presented with hematologic abnormalities, hepatosplenomegaly and eye problems and was initially considered to have a hematologic malignancy. Review of radiologic findings however, revealed a generalized increase in bone density, sclerosis of the skull and vertebra, and ‘bone-in-bone’ appearance. On the basis of the clinical history and the characteristic radiographic findings, she was diagnosed with malignant infantile osteopetrosis.