Autosomal dominant osteopetrosis: Case report

Abstract

The Osteopetrosis is an infrequent disease, is characterized by the bone density increase observed in the X Ray, result of abnormalities in differentiation and function of the osteoclasts that disables them for bone resorption and cartilaginous, forming more denser but more fragile bones. Objective: To describe Autosomal Dominant Osteopetrosis showing our experience, the method of treatment. With a broad knowledge of this pathology, the characteristic radiographic findings and the appropriate therapeutic management, we can achieve an accurate early diagnosis and better patient survival. Clincal Case: Female patient of 13 years old, with story of spontaneous repeat fracture on the forearms principally, the mother deny traumatic background; likewise she refers to observe stunted growth of the patient, so she comes to the Hospital Regional de Occidente, Quetzaltenango, Guatemala, for evaluation, They were made AP and lateral skull, upper and lower extremities, dorsal spine X – Rays, evidencing on the skull’s X – Rays bone density increase and increased thickness, in the dorsal spine it’s observed increased sclerosis at the level of the superior and inferior end plates of the vertebral bodies, giving the typical appearance of vertebra in a sandwich, pathognomonic sign of these disease. These findings are in relationship with Osteopetrosis Autosomal Dominant Type II. The patient received treatment with prednisolone, vitamin D and calcium in doses according to the anthropometric measurements of the patient and medical control per year to evaluate clinical status.