Advanced Early-Onset Fahr’s Disease: A Case Report

Fahr’s disease is a rare disorder characterized by abnormal calcium deposition within the basal ganglia, cerebellar dentate nuclei, and white matter tracts with subsequent atrophy. Typical CT imaging features include extensive symmetric calcification involving the basal ganglia and subcortical white matter. Primary Fahr’s disease (also known as primary familial brain calcification) is diagnosed based on the exclusion of secondary causes such as underlying metabolic or endocrine disorders. The disease may or may not feature a detectable genetic component, which is inherited in an autosomal dominant or recessive pattern. Fahr’s disease typically presents in the fourth to fifth decade of life and often manifests clinically with movement disorders and/or neuropsychiatric symptoms ranging from memory/concentration deficits to psychosis. Fahr’s disease is not fully understood and is often misdiagnosed in psychiatric patients, thus further literature and documentation of characteristic imaging findings would prove helpful when the diagnosis is suspected. We demonstrate a very radiologically advanced case of Fahr’s disease particularly in terms of calcifications in a contrastingly young patient with atypical clinical findings of gait abnormalities, microcephaly, and schizophrenia. Although genetic testing and family history were unavailable for this patient, the profound imaging and symptom presentations should serve to expand the awareness and understanding of a Fahr's disease diagnosis in younger and older patients alike.