A Case Report of Malignant Infantile Osteopetrosis

Abstract

BACKGROUND AND OBJECTIVE: Infantile osteopetrosis is a rare genetic fetal and metabolic congenital osteo- disorder. It results from dysfunction or lack of osteoclasts. Most of patients die from anemia, bleeding and infection. The present article is a case report of malignant infantile osteopetrosis that occurred first time in Bojnord, Iran. The aim of this report is to clarify clinical manifestation of osteopetrosis, and can be helpful to diagnosis rapidly and manage sufficiently in future.CASE: A 2-month female baby with infantile osteopetrosis was referred with growth retardation, severe abdominal distention, petitia and purport. Osteopetrosis was confirmed with clinical and paraclinical examinations. She was treated with blood and PLT transfusion and discharged in good general condition.CONCLUSION: The results of this study showed that early detection and interventions can decrease mortality and morbidity in infantile osteopetrosis.

Keywords

• malignant infantile osteopetrosis
• case report