Abstract

Background: Osteogenesis imperfecta (OI) is a heritable bone disorder characterized by fractures with minimal trauma. Despite the detailed information about skeletal abnormalities, data about the involvement of neurovascular structures in osteogenesis imperfecta (OI) is limited.
Methods: We report a case of male neonate with OI type III who presented with intracranial hemorrhage. OI type III was diagnosed on the basis of family history and clinical, radiologic and genetic test findings. Results: A novel genetic mutation was found; splicing mutation heterozygous c.1036-2A>C (IVS19) in COL1A2 gene.
Conclusion: This case demonstrates that intracranial hemorrhage could be a major complication in patients with OI type III by underlying unknown mechanisms. OI seems to be an entity associated with intracranial hemorrhage. Thus, we suggest a need for awareness of risk of this complication when evaluating a neonate with OI.