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.
Highlights
Osteogenesis imperfecta (OI) is an autosomal dominant genetic disorder characterized by bone fragility with susceptibility to fracture
We report a case of neonate with OI type III who presented intracranial hemorrhage with a novel mutation in COL1A2
Along the pial surface of brain parenchyma, low signal intensity with tubular shapes was noted on T2 weighted image suggesting a possibility of a vasculopathy (Figure 1d) and high signal intensity on T1 weighted image as well. These findings suggested acute to early subacute hemorrhage or hematoma
Summary
Osteogenesis imperfecta (OI) is an autosomal dominant genetic disorder characterized by bone fragility with susceptibility to fracture. OI is characterized by blue sclera, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, hearing impairment, and presence of wormian bones on skull radiographs [1]. The majority of individuals with OI have dominantly inherited mutations in either COL1A1 or COL1A2, which encode the α chains of type I collagen [3]. Type I collagen known to be widely distributed throughout the body, including the perivascular spaces, the cardiac valves and the major extracellular components of the cerebral arterial wall [4].
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