Fahr’s disease with epilepsy, deafness, schizophreniform psychosis and autoimmune polymyositis: a case report

Ekaterina Viteva, Albena Djurkova


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 has been monitored for 11 years and is interesting for the clinical practice with the following particular 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 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 accepted as a specific finding; 6. Autoimmune polymyositis as a concomitant disease which has been improved by specific treatment; 7. Diagnosis of complete deafness 6 years after the Fahr’s disease onset; 8. Typical psychotic symptoms 9 years after the first epileptic seizure; 9. Fahr’s disease progress has been 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 have not found in literature case reports with a similar combination of clinical manifestations and progress.

In conclusion this case report presents additional information about the clinical characteristics, diagnostic, and therapeutic approach in patients with Fahr’s disease.


Fahr’s disease, epilepsy, psychosis, polymyositis, deafness

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