Fahr's syndrome: diagnosis issues in patients with unknown family history of disease

Fahr’s disease (FD) is a rare clinical neurodegenerative entity, occurring in fourth or fifth decade or elderly patients, consisting in symmetric polytopic calcifications, in one ore more of the following areas: basal ganglia, cerebral white matter, thalami, internal capsulae, cerebellum, which can lead to pyramidal, extrapyramidal, cerebellar symptoms, alteration of sensitive perception and psychiatric manifestations. The purpose of this paper is to present the FD-diagnosis with unknown family history of disease, based on calcification pattern, symptomatology and lab tests. A three years retrospective study was effectuated on 1942 patients, aged between 20 and 96-year-old, presenting neurological and psychiatric symptoms, which required differential diagnosis with FD. All the patients were evaluated by CT-scans and levels of serum calcium and alkaline phosphatase were measured in cases with cerebral calcification, in order to exclude abnormal calcium-phosphorus metabolism. Cerebral and cerebellar calcification were found in 176 cases, seven cases presenting a calcification pattern suggestive for FD and in six from the seven cases a positive diagnosis of FD was established.