Three cases of Osteopetrosis in a family

Abstract

Background and Objective: Osteopetrosis is a rare congenital bone disease, characterized by generalized increase in skeletal density. It has been recognized several types of osteopetrosis with varying severity. Cases: In this survey, three cases with osteopetrosis in a family are reported. Case 1 was a 2-month-old girl with anemia, hepatosplenomegaly, blindness, and generalized increase density of bones who was admitted in hospital with diagnosis of osteopetrosis congenital. She died at 11 months old due to septicemia. Case 2 was the brother of the case 1 who was diagnosed as osteopetrosis after birth according to increased bone density, which was shown on his bone survey. During three year follow up of the patient, there was no clinical or lab findings. Father of the patients had history of recurrent bone fracture with good healing. Radiography of his vertebral column showed increase density of bones. The diagnosis was done as osteopetrosis Tarda or Albers Schonberg disease. Conclusion: It was suggested that whenever radiography of the patient shows increase density of bone, one of the diagnosis could be osteopetrosis and it needs more investigation in the family.

Keywords

• osteopetrosis
• increased bone density
• albers schonberg