Osteogenesis imperfecta, a case report

Abstract

Introduction: osteogenesis imperfecta or crystal bones constitute the hereditary osteoporotic syndrome with the highest incidence in childhood.

Case report: a 6-year and three-month-old school student admitted to the pediatric intensive care unit with a picture of severe respiratory failure and tracheostomy for permanent mechanical ventilation with an artificial respirator. Evolutionarily, the patient began to present diaphyseal fractures of long bones, cranial deformities and alterations in dental development, slightly blue sclera that later turned white. In the same way presented ligamentous laxity in extremities, absence of furrows and plantar folds, pectus excavatum, braced ribs and thoracic retractions. The karyotype study in the child and parents was normal. Bone densitometry showed significant osteopenia and transfontanel ultrasound showed important signs of hydrocephalus, leading to the diagnosis of type III osteogenesis imperfecta. Dies from cardiorespiratory arrest in a medical procedure.

Conclusions: osteogenesis imperfecta can be present in genetically healthy patients as a novo mutation. These are mainly diagnosed by clinical manifestations, such as pathological fractures, bone deformities with ligamentous laxity and dentinogenesis imperfecta. Imaging studies, especially transfontanel ultrasound and bonedensitometry are essential for the definite diagnosis of these patients. Respiratory complications are a major cause of death in these patients, extreme care must be taken and provide accurate counseling.