ESPE Abstracts

Fahr's disease is a very rare condition characterized by abnormal, symmetrical, and bilateral deposits of calcifications in the basal ganglia without an identifiable cause. Fahr's disease must be differentiated from Fahr's syndrome, which is also a rare anatomo-clinical entity, characterized by the presence of intracerebral calcifications located in the basal ganglia, most often associated with phosphocalcic metabolism disorders, primarily hypoparathyroidism. While Fahr's syndrome involves secondary intracerebral calcifications, Fahr's disease is primary or idiopathic with autosomal dominant or recessive inheritance. There are sporadic and familial forms. The clinical presentations of Fahr's disease vary and can include confusion syndromes, cognitive disorders, cerebellar syndrome, abnormal movements, psychiatric syndrome, or epilepsy. There are also asymptomatic forms. We report the case of a 13-year-old boy with Fahr's disease revealed by a nonfebrile epileptic seizure. The patient’s brother has similar epileptic manifestations. The medical history, clinical, biological, and radiological findings were supportive of a familial form of Fahr’s disease.