An Unusual Presentation of Fahr Disease: A Case Report

Abstract

Fahr disease, now more commonly referred to as primary familial brain calcification (PFBC), is a rare neurodegenerative disorder characterised by abnormal bilateral intracranial calcifications, most commonly involving the basal ganglia and other deep brain structures. The condition usually manifests in adulthood, often after the third decade of life, and is frequently associated with psychiatric symptoms, cognitive impairment, movement disorders, or seizures. However, clinical presentation can vary, which often leads to delays in diagnosis, particularly when symptoms are nonspecific or predominantly neurological rather than psychiatric. We report the case of a twenty-eight-year-old male who presented to the Emergency Department with complaints of persistent numbness and pain involving both the upper and lower limbs for the past year. On neurological examination, the patient was found to have impaired attention and an ataxic gait, while other systemic findings were unremarkable. Non-contrast computed tomography of the brain revealed extensive bilateral and symmetrical calcifications involving the cerebral hemispheres, basal ganglia, and dentate nuclei, along with additional calcifications in the bilateral frontal subcortical and corticomedullary regions. Secondary causes of bilateral symmetrical calcifications were ruled out. These findings were suggestive of Fahr's disease. Although definitive curative treatment for Fahr disease is limited, early recognition is important for appropriate symptomatic treatment and monitoring of neurological complications. This case highlights an uncommon presentation of Fahr disease in a young patient, where motor symptoms were the predominant manifestation rather than psychiatric features. It emphasises the importance of considering Fahr disease in the differential diagnosis of patients presenting with chronic unexplained neurological deficits.