Year: 2025
Type: article
Study design: Case Report
Abstract: Fahr's disease is a rare neurodegenerative disorder marked by abnormal calcium deposits in the basal ganglia, cerebellar dentate nuclei and white matter tracts, resulting in progressive brain atrophy. The disease typically presents in the fourth or fifth decade of life. It manifests with a variety of symptoms, including motor dysfunction, muscle tone abnormalities, involuntary hand movements, impaired eye movements, speech difficulties, cognitive decline, ataxia, seizure and neuropsychiatric symptoms, ranging from memory and concentration deficits to psychosis. Imaging studies reveal extensive, symmetric calcification in the basal ganglia and subcortical white matter. Diagnosis of primary Fahr’s disease, also referred to as primary familial brain calcification, involves excluding secondary causes, such as metabolic or endocrine disorders. The condition may have a genetic origin, typically inherited in an autosomal dominant or recessive manner. We present a case of a 48-year-old previously healthy man with speech difficulty found to have idiopathic cerebral calcifications leading to a diagnosis of Fahr’s disease.
Institution: Colombo North Teaching Hospital
Language: English
Subfield: Neurology
Field: Neuroscience
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4413635514