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

Abstract

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.

A Case Report of Fahr’s Disease and Its Clinical Heterogeneity

“…However, it is essential to acknowledge the unique aspect of our case. Unlike some instances described in the literature [7], our patient did not exhibit movement disorders or other neuropsychiatric symptoms such as hallucinations, delusions, or mood disorders like depression or bipolar disorder. This divergence highlights the clinical heterogeneity that characterizes Fahr's disease.…”

“…However, it's crucial to acknowledge that the patient's clinical history deviates from the expected symptom timeline of this variant. In our case, the patient initially exhibited recurrent episodes of aggressive behavior and anxiety, which are standard psychiatric symptoms commonly associated with Fahr's disease and are also noted in the early variant described in the mentioned study [7]. Nevertheless, conspicuously absent in this case were gait abnormalities, which are typically recognized as a later-stage manifestation of the disease.…”

“…An early-onset variant of Fahr's disease has been identified in a study by Aghemo et al [7], primarily observed in individuals aged 40 or in their early 30s. This variant displays a unique clinical trajectory where psychiatric symptoms precede the onset of movement disorders.…”

Idiopathic young-onset Fahr’s disease with schizophrenia-like presentation: a case report

“…Extrapyramidal symptoms are observed in 50–56% of initial presentations, while psychiatric symptoms such as psychosis, mania, anxiety, and apathy contribute to 40% ( 3 , 7 – 9 ). Two clinical variants of Fahr’s disease were proposed by other studies: early onset and late onset ( 10 ). In the early onset variant, psychiatric symptoms were found to present earlier to movement abnormalities.…”