Current perspectives on Farh's disease: a glimpse from the internal medicine unit

Juan José Gómez-Piña; Vanessa Castro Luna; Alan David Arroyo Chávez; Nallely Puebla Valdés; Natalia León Alfaro; Juan Carlos Arguello Trenado; Mario Soria Elicea; Luis Rodrigo Bañuelos García

doi:10.18203/2320-6012.ijrms20251616

Authors

Juan José Gómez-Piña Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico https://orcid.org/0000-0003-2955-6152
Vanessa Castro Luna Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Alan David Arroyo Chávez Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Nallely Puebla Valdés Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Natalia León Alfaro Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Juan Carlos Arguello Trenado Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Mario Soria Elicea Department of Internal Medicine, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico
Luis Rodrigo Bañuelos García Metabolic Unit, Hospital de Especialidades CMN La Raza “Antonio Fraga Mouret”, Instituto Mexicano del Seguro Social, Mexico City, Mexico

DOI:

https://doi.org/10.18203/2320-6012.ijrms20251616

Keywords:

Fahr's disease, Basal ganglia, Prevalence, Cranial CT-scan, Brain calcifications

Abstract

Background: Fahr's disease involves abnormal calcium deposits (calcium carbonate/phosphate) in the basal ganglia and other brain regions, primarily due to metabolic dysfunction, with rare autosomal dominant cases. These calcifications affect basal ganglia, thalamus, hippocampus, dentate nucleus, cerebral cortex, and subcortical white matter of the cerebellum. The aim of this study was to determine the prevalence of fahr's disease unrelated to secondary metabolic disorders (2017-2024).

Methods: We conducted a retrospective review of hospital records between 2017 and 2024 to identify patients with a clinical diagnosis of Fahr's disease or those presenting with neurological abnormalities such as seizures, altered mental status, involuntary movements, or intracranial calcifications detected during diagnostic evaluations. Inclusion criteria required cranial CT scans to systematically assess calcifications in predefined brain regions: basal ganglia, thalamus, hippocampus, dentate nucleus, cerebral cortex, or subcortical cerebellar white matter.

Results: Of 134 suspected Fahr’s disease cases, only 8 were confirmed on tomography, not clinically with a prevalence of 0.06%. None showed clinical basal ganglia involvement, but CT revealed calcifications: 2 in basal ganglia, thalamus, hippocampus, and cerebellum; 4 in basal ganglia, thalamus, and hippocampus; and 2 in basal ganglia and cerebral cortex.

Conclusions: In our setting, Fahr's disease is generally underdiagnosed and is typically found incidentally through cranial CT scans. Its prevalence could potentially be even higher. Since most of these patients are asymptomatic, comprehensive extension studies are often not conducted for their evaluation. As a result, the current prevalence remains extremely low compared to other studies (around 1%).

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