Anuradha Ganesh, MD et al. [from well respected institutions]:
To report 3 patients with type I osteogenesis imperfecta (OI) who developed retinal hemorrhages and subdural hematomas after minor trauma.
DesignObservational case series.
MethodChildren with OI who developed retinal hemorrhages after minor trauma were identified through an international e-mail–based mailing list for professionals with an interest in child abuse.
ResultsThree patients with type I OI who presented to the emergency department after a short fall were identified. Clinical evaluation included pediatric and ophthalmic examination. Investigations included complete blood count, coagulation profile, computed tomography of the brain, and a skeletal survey. Ophthalmologic examination revealed retinal hemorrhages in all the children. In the first patient, these were flame shaped and located in the posterior pole of the left eye. The second patient had vitreous and retinal hemorrhages in both eyes. The third patient had scattered intraretinal hemorrhages in both eyes. Computed tomography demonstrated a subdural hematoma in all of the patients and, in patient 2, a simple parietal skull fracture. The child protection teams that investigated the cases believed the explanations offered for the injuries to be plausible, and a diagnosis of accidental injury was made in all 3 patients.
ConclusionThis is the first report of retinal hemorrhages and subdural hematoma after trivial trauma in patients with type I OI. The collagen defects underlying this disorder of bone and connective tissue may predispose patients with type I OI to retinal hemorrhages and subdural hematomas after minor trauma.