Objective:

To report a case of Fahr’s disease and discuss diagnostic challenges.

Background:

Fahr’s disease or bilateral striopallidodentate calcinosis presents with movement disorders and/or behavioral disturbances also seen in dementia with Lewy bodies and autoimmune encephalitis. The imaging hallmark of Fahr’s disease is calcification of the basal ganglia that can be seen on brain computed tomography (CT) scan. However, basal ganglia calcification may also occur in healthy, asymptomatic adults, so this feature may be read as normal age-related change. Therefore, the non-specificity of symptoms and imaging findings pose a challenge to diagnosis of Fahr’s disease.

Design/Methods:

Case Report

Results:

The patient was a 76-year-old woman with a 1-year history of non-amnestic cognitive impairment with delusions. Family history included schizophrenia in the mother. Brain magnetic resonance imaging (MRI) and CT scans showed mild generalized atrophy and calcification in the basal ganglia and cerebellum that was reported as benign. She was initially diagnosed with dementia with Lewy bodies and given antipsychotic medications, but her delusions persisted. Subsequent blood tests showed elevated antithyroglobulin and thyroid peroxidase antibody, suggesting Hashimoto’s encephalitis. She did not respond to steroid medication and soon died from complications of acute pancreatitis. Post-mortem neuropathologic evaluation revealed severe and extensive cerebrovascular mineralization, moderate arteriosclerosis, and no sign of Hashimoto’s encephalopathy. These results are strongly suggestive of a diagnosis of Fahr’s disease.

Conclusions:

In cases of non-amnestic cognitive impairment with psychiatric manifestation, calcification on CT or MRI should be weighted more heavily as a sign of disease. It is plausible that the mother’s psychosis was actually caused by Fahr’s disease rather than schizophrenia. A positive family history of psychosis with presence of widespread calcification should put Fahr’s disease top on the differential. Disclosure: Dr. Fitzmorris has nothing to disclose. Dr. Bit-Ivan has nothing to disclose. Dr. Bit-Ivan has nothing to disclose. Dr. Bonakdarpour has nothing to disclose.

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