SLC20A2-related primary familial brain calcification with purely acute psychiatric symptoms: a case report.

ABSTRACT:

Background

Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute psychiatric symptoms, which has been rarely reported in this disease.

Case presentation

A 38-year-old woman was hospitalized due to disorganized speech; disordered thought contents; disorganized behaviour; emotional instability and lability; and grandiose words, actions and facial expressions. Brain computerized tomography (CT) revealed calcification in the basal ganglia; ce

SUBMITTER: Bu W 

PROVIDER: S-EPMC9290231 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature