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Research Article Open access CC BY 4.0

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

Karima Larbi Ouassou, Abdelilah Radi, Amal Hassani, Rachid Abilkassem, Aomar Agadr

Journal of Advances in Medicine and Medical Research · pp. 69–76 · Published 8 Jun 2021

10.9734/jammr/2021/v33i1330956

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.

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