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

Mustafa S Alhasan; Ayman S Alhasan

doi:10.1016/j.radcr.2025.11.039

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

Radiol Case Rep. 2025 Dec 6;21(3):1005-1010. doi: 10.1016/j.radcr.2025.11.039. eCollection 2026 Mar.

Authors

Mustafa S Alhasan^{1

2}, Ayman S Alhasan^{1

3}

Affiliations

¹ Department of Internal Medicine, College of Medicine Taibah University, Madinah, Saudi Arabia.
² Teleradiology Solutions, Ardmore, PA, 19003, USA.
³ Department of Radiology, King Faisal Specialist Hospital and Research Centre, Madinah, Saudi Arabia.

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.

Keywords: Acute psychosis; Brain calcification; Fahr’s disease; Primary familial brain calcification; SLC20A2.

Publication types

Case Reports