Malignant Infantile Osteopetrosis in a Filipino Child
DOI:
https://doi.org/10.47895/amp.v42i2.2419Keywords:
autosomal recessive malignant osteopetrosis
“bone-in-bone” appearance
hepatosplenomegaly
bone marrow transplantation
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.