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

Abstract

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.