RARE DISEASES AND ORPHAN DRUGS An International Journal of Public Health

Fahr’s disease is a rare sporadic or inherited neurodegenerative disorder characterized by symmetrical bilateral calcifications in the basal ganglia and some other brain structures – dentate nucleus, thalamus, cerebral cortex, subcortical white matter, and hippocampus. We report a patient with Fahr’s disease who was monitored for 11 years. The case is of interest for clinical practice because of the following features: 1. the patient fulfills the Fahr’s disease criteria with the exception of family history consistent with autosomal dominant inheritance; 2. early disease onset (20 years of age) with a generalized tonic-clonic seizure; 3. despite calcifications in the region of the basal ganglia on CT scans, there are no clinical signs of extrapyramidal system abnormalities; 4. rare epileptic seizures (4 generalized tonic-clonic seizures for the whole period of observation); 5. generalized paroxysmal activity of delta waves on only one EEG which could not be regarded as a specific finding; 6. autoimmune polymyositis as a concomitant disease, which improved by specific treatment; 7. diagnosis of complete deafness 6 years after Fahr’s disease onset; 8. typical psychotic symptoms 9 years after the first epileptic seizure; 9. Fahr’s disease evolution was proven 11 years after initial symptoms by CT scan visualization of new bilateral symmetrical calcifications in the сerebellar hemispheres and respective clinical manifestations – static and locomotor ataxia. We found no case reports in the literature with a similar combination of clinical manifestations and progression. In conclusion, this case report provides additional information about the clinical characteristics and management of patients with Fahr’s disease.