Early onset bilateral calcifications and epilepsy

Abstract

Bilateral occipital calcifications associated with epilepsy and sometimes with celiac disease have been described previously. A boy with bilateral frontal and occipital diffuse calcifications accompanied by failure to thrive, nephrogenic diabetes insipidus, developmental delay and seizures, but without celiac disease is presented. Follow-up at 3 years of age disclosed neurodevelopmental delay, height and weight less than expected for age, and seizures controlled with carbamazepine. The uncommon association of these features and the early onset of symptoms is discussed. Although bilateral occipital calcifications share some clinical features with bilateral fronto-occipital calcifications, it is arguable whether the two are on a spectrum of a single disease or represent separate entities.