A case of cerebellar hypoplasia in a Chinese infant with osteogenesis imperfecta

Abstract

We report a unique case of unilateral cerebellar hypoplasia in a young Chinese girl with osteogenesis imperfecta type IV. Magnetic resonance imaging showed mild basilar invagination and impression. Although unilateral cerebellar hypoplasia and osteogenesis imperfecta may have been coincidental diagnoses, we propose possible mechanisms for unilateral cerebellar hypoplasia secondary to osteogenesis imperfecta. For example, cerebellar hypoplasia may have been because of vascular disruption or direct compression to the posterior circulation in utero. Foetuses with osteogenesis imperfecta are more susceptible to the above risks compared to the normal foetus because of associated craniocervical anomalies and a poorly ossified skull.