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

一例20岁男性SLC20A2基因突变并伴有急性精神病的早发性法尔氏病:病例报告及文献综述

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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.

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