Osteopetrosis: Brain ultrasound and computed tomography findings

Abstract

A case of osteopetrosis presenting with rare features of dysmorphism with proptosis due to hypoplasia of the orbits and the temporal bone is described. The case also had calcifications in the periventricular regions, the falx cerebri and the corpora colliculi. These features and sonographic findings of osteopetrosis have not been reported previously. The sensitivity and specificity of imaging modalities in the diagnosis of intracranial calcifications is discussed.