Parkinsonism and Seizures in Fahr’s Section Disease: A Report of Two Cases
Year: 2025
Type: article
Study design: Case Report
Abstract: Fahr’s disease, also known as primary familial calcifications, is a rare neurodegenerative disorder characterised by abnormal calcium deposits in the brain caused by genetic mutations. Fahr’s syndrome, or secondary brain calcification, results from infections, metabolic, and endocrine abnormalities leading to calcium deposits in the brain. Although Fahr’s disease and Fahr’s syndrome are recognised as separate entities, they are often used interchangeably in the literature. The prevalence of Fahr’s disease is <1 per 100,000, with no significant gender differences, and it often goes undiagnosed since one-third of the patients are asymptomatic. Patients may present with headaches, movement disorders, seizures, cognitive defects, and psychiatric manifestations, which are usually mistaken for other neurological conditions. The pathophysiology is still unclear but is postulated to be due to abnormal calcium and phosphate metabolism and transport in the brain. Fahr’s disease can be diagnosed based solely on neuroimaging, even without an identifiable etiology. While genetic testing is supportive, it is not mandatory, as many patients lack mutations despite a positive family history. Both conditions show characteristic symmetrical calcifications in the basal ganglia, as well as areas like the thalamus, cerebellum, and subcortical white matter on neuroimaging. Management primarily focuses on symptomatic treatment to control movement disorders, preserve cognition, and alleviate neuropsychiatric manifestations through a multidisciplinary approach. Through this case report, the authors highlight two cases with brain calcifications and their management. The first patient had parkinsonian features, while the second patient experienced a generalized tonic-clonic seizure and were diagnosed with Fahr’s disease due to an unidentifiable etiology and Fahr’s syndrome due to hypoparathyroidism, respectively.
Language: English
Subfield: Neurology
Field: Neuroscience
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $275
OpenAlex ID: W4412956161