MALIGNANT INFANTILE OSTEOPETROSIS: ROENTGENOGRAPHIC DIAGNOSIS

Abstract

Osteopetrosis is the condition of increased bone density or sclerotic bone. Albers- Schoenberg disease was described as the infantile malignant osteopetrosis based on the disorders of clinical course, radiographic and genetic transmission."
Osteopetrosis was classified as the generalized skeletal dysplasia, autosomal recessive of probably deficiency of carbonic anhydrase II with functional defect of the osteoclast resulted in nondestruction of calcified matrix during growth. This causes obliteration of marrow space in the medullary cavities and replaced by excessive calcified matrix. The thickened solid spongiosa causes little blood formation space or obliteration of marrow space within the skeletal portion.
The dysplasia presented in infantile period with anemia, hepatosplenomegaly, recurrent infection, and failure to thrive. Blindness may develop early due to narrowing of the optic canals and other cranial foramina by excessive osteopetrosis. Hydrocephalus may develop due to narrowing of the foramen magnum.
The diagnosis by radiographic examination of the skeleton reveals marked sclerosis of the skeletal structure, as dense as marble bones or osteopetrosis. The bones of osteopetrosis are made up largely of calcified cartilage and are brittle rather than strong, the fracture is not uncommonly frequent. The hematological presentation is protracted hypoplastic anemia, throm- bocytopenia and reinfection.
The early dysplasia in infancy is the enlarged metaphysis resembling rickets. The failure of underconstriction of the metaphysodiaphysis or funneralization is found in long bones with the presence of alternating transverse lucency in the sclerosis. The course is early fatal due to depletion of hematopoiesis in bone marrow. The treatment was initiated by bone marrow transplantation with some favorable result. ^9-11