Novel likely pathogenic SLC20A variant in primary familial brain calcification

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• Primary familial brain calcification (PFBC) is a rare, inherited neurological disorder characterized by abnormal calcium deposits in the brain.
• It often presents with diverse neurological symptoms, but can also be asymptomatic, posing diagnostic challenges.

Observation:

• A woman in her 30s presented with incidental findings of bilateral basal ganglia, thalamic, cerebellar, and subcortical white matter calcification on neuroimaging.
• The calcifications were symmetric and significant, prompting further investigation.

Findings:

• A diagnosis of asymptomatic PFBC was established.
• Genetic testing revealed a pathogenic variant in the SLC20A2 gene, a common cause of PFBC.
• The same genetic variant and similar brain calcifications were identified in the patient's asymptomatic father.

Implications:

• This case highlights the importance of genetic testing in diagnosing PFBC, even in asymptomatic individuals.
• Identifying the SLC20A2 variant aids in understanding the genetic basis of PFBC and facilitates family screening.
• Early diagnosis and genetic counseling are crucial for managing PFBC and its potential complications.