Work

Early-onset Fahr's disease with acute psychosis in a 20-year-old male with SLC20A2 mutation: A case report and literature review

Year: 2025

Type: article

Abstract: Fahr's disease is a rare neurogenetic disorder characterized by bilateral basal ganglia calcification, typically presenting in the fourth to fifth decade. We report an exceptional case of a 20-year-old male presenting with acute psychosis and bilateral basal ganglia calcifications, subsequently confirmed with SLC20A2 mutation. Noncontrast CT demonstrated extensive symmetric calcifications in the basal ganglia, thalami, and subcortical white matter. Genetic testing revealed a pathogenic SLC20A2 variant, confirming primary familial brain calcification. This case highlights the importance of considering Fahr's disease in young adults with acute psychiatric manifestations and emphasizes the role of early genetic testing for accurate diagnosis and family counseling.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2025.11.039

Authors: Mustafa S. Alhasan, Ayman S. Alhasan

Institutions: Taibah University, King Faisal Specialist Hospital & Research Centre

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600