Osteogenesis imperfecta XV: An ultra-rare genetic disease with neurological anomalies

A six-year-old Brazilian boy was born to non-consanguineous and healthy parents at 40 weeks of gestation via cesarean delivery. The family history is unremarkable. He had diagnosis of hydrocephalus since prenatal period and the treatment was the placement of a shunt at the first week of life. Because he had many bony fractures in 50 days of life, he became bisphosphonate therapy. The phenotype of osteogenesis imperfecta has been characterized by multiple fractures but the neurological abnormalities are unusual [1]. Intravenous bisphosphonate therapy is still the most widely used drug treatment approach [1,2].