Infantile malignant osteopetrosis: A case report with review of literature

Abstract

Osteopetrosis is a rare hereditary, generalized disorder of bone characterized by a significant increase in the density of the skeletal tissues usually manifesting in two basic forms: an autosomal dominant benign form (osteopetrosis tarda) and an autosomal recessive malignant form (osteopetrosis congenita). The present article documents an incidentally diagnosed case of malignant osteopetrosis in a 4-year-old child with periapical abscess. It is our belief that given the nature of this disease, its nosological confusion and lack of definitive treatment modalities, as oral physicians we can still manage such cases merely by timely preventive measures, early intervention and by avoiding complications. This was just a single case which was incidentally diagnosed; our focus must shift to the many cases which otherwise go unnoticed to ensure that timely intervention can be lifesaving.

Keywords

• Infantile osteopetrosis
• malignant osteopetrosis
• marble bone disease
• osteopetrosis
• osteosclerosis