Osteopetrosis : Report of two cases

[Abstract] Background : Osteopetrosis is a rare congenital disorder in which the bones are overly dense due to failure in osteoclastic bone resorption. Symptoms can include fractures, frequent infections, blindness, deafness, and hydrocephalus. Purpose : We report two cases of osteopetrosis. The first case is of a 4-year-old girl with osteopetrosis and osteomyelitis in the left mandible. She also presented anemia, proptosis, and nystagmus. The osteomyelitis was treated with antibiotics (ceftriaxone). The second case is of a 4-year-5-month-old girl, with osteopetrosis and multiple fractures, included both femora, left tibia, costae and clavicle. She also presented hydrocephalus, blindness due to bilateral optic atrophy, hearing impairment in the left side and obstructive sleep apnea syndrome (OSAS). The fractures were treated with closed reduction and a hip spica cast for the femur and long leg plaster for the tibia fracture. She received a ventriculo peritoneal shunt for the hydrocephalus. Results : The osteomyelitis in the first patient was overcome, but could relapse. The fractures as well as hydrocephalus in the second case were also overcome, but many complications remain. Conclusions : Patients with osteopetrosis suffer from many complications. Therefore, treatment should be based on a multidisciplinary approach. Osteomyelitis sometimes occurs in osteopetrosis. The mandible is a region commonly affected related with changes in growing teeth. The fragile bones in osteopetrosis are very susceptible to be fractured.