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

Abstract

Fahr's disease is an exceptionally rare and complex neurological disorder characterized by abnormal calcium deposition in the basal ganglia and cerebral cortex. This case report presents a 27-year-old female with Fahr's disease, showcasing the striking clinical diversity and challenging diagnostic landscape associated with this condition. Despite its rarity, Fahr's disease can have a profound impact on patients, manifesting as a spectrum of neurological symptoms, cognitive deficits, and motor impairment. Recent advancements in research have illuminated genetic aspects, offering potential avenues for enhanced diagnostic accuracy and therapeutic interventions. Treatment for Fahr's disease remains primarily supportive, targeting neuropsychiatric symptoms and seizure prophylaxis. Our case highlights the unique presentation of a young female patient with Fahr's disease, challenging conventional demographic profiles and emphasizing the need for individualized patient assessments. The utilization of non-contrast CT scans in diagnosis underscores the importance of appropriate imaging techniques, given the diverse clinical manifestations of this condition. This case adds to the growing understanding of Fahr's disease, emphasizing its clinical heterogeneity and advancing the quest for tailored approaches to diagnosis and intervention.