Malignant Osteopetrosis, a Rare Cause of Bicytopenia in Infants: A Case Report

Abstract

Osteopetrosis is an autosomal metabolic bone disease caused by a functional abnormality of the osteoclasts. Two main forms exist, the dominant benign form and the recessive malignant form. We describe in our patient the recessive malignant form retained according to all the clinical, biological and especially radiological criteria. We also report in this work the elements of description of the disease in the literature in comparison with the data of our patient, which allows us to emphasize the severity of the ocular and bone damage requiring an early marrow transplant which alone seems to cure the disease.