Basilar invagination in osteogenesis imperfecta-Case report

Osteogenesis imperfecta (OI) is a genetic disorder characterized by defective type I collagen synthesis, leading to fragile bones and skeletal deformities. One of the serious complications of OI involves abnormalities of the craniovertebral junction, including basilar invagination, basilar impression, and platybasia, which can cause skull base deformities and brainstem compression. We report a case of a 19-year-old patient with OI presenting with headaches, neurological deficits, and visual impairment, whose contrast-enhanced head CT scan revealed basilar invagination, fusion of midbrain colliculi, tonsillar herniation into the foramen magnum, and communicating hydrocephalus. These cranial abnormalities arise from weakened bone structures inherent in OI and may disrupt cerebrospinal fluid flow, leading to significant neurological symptoms. Early detection and ongoing monitoring of craniovertebral anomalies in OI patients are essential to prevent severe complications and improve clinical outcomes.