What question did this study set out to answer?

To describe the clinical, radiological, and genetic presentation of early-onset primary familial brain calcification in an asymptomatic 9-year-old child.

August 19, 2026Brain and Development Case ReportsOpen Access

Early detection of familial idiopathic basal ganglia calcification associated with an SLC20A2 mutation in a 9-year-old girl: A case report

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Authors

HTHikaru Tsuchiya HSHiroki Suganuma YKYuri Kitamura

Discussion

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Overview

Case report reveals incidental brain calcifications from an SLC20A2 mutation in an asymptomatic child, highlighting the importance of early genetic testing.

Key Points

To describe the clinical, radiological, and genetic presentation of early-onset primary familial brain calcification in an asymptomatic 9-year-old child.
Evaluated a 9-year-old girl with incidentally discovered intracranial calcifications using head CT, electroencephalography, ophthalmologic assessments, and metabolic/immunological laboratory testing.
Conducted genetic testing for causative variants associated with primary familial brain calcification in the patient and family members.
Head CT demonstrated extensive bilateral calcifications in the basal ganglia and subcortical frontal white matter despite completely normal neurological, laboratory, and neurophysiological evaluations.
Genetic analysis identified a shared heterozygous missense variant in the SLC20A2 gene in both the asymptomatic patient and her asymptomatic father.

Cite This Study

Tsuchiya et al. (2026) studied this question.

synapsesocial.com/papers/6a85633c03308d306e2d64c6 https://doi.org/10.1016/j.bdcasr.2026.100154

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August 19, 2026Brain and Development Case ReportsOpen Access

Early detection of familial idiopathic basal ganglia calcification associated with an SLC20A2 mutation in a 9-year-old girl: A case report

View Full Paper

Ask AI

Bookmark

Authors

HTHikaru Tsuchiya HSHiroki Suganuma YKYuri Kitamura

Discussion

Member takes

Overview

Case report reveals incidental brain calcifications from an SLC20A2 mutation in an asymptomatic child, highlighting the importance of early genetic testing.

Key Points

To describe the clinical, radiological, and genetic presentation of early-onset primary familial brain calcification in an asymptomatic 9-year-old child.
Evaluated a 9-year-old girl with incidentally discovered intracranial calcifications using head CT, electroencephalography, ophthalmologic assessments, and metabolic/immunological laboratory testing.
Conducted genetic testing for causative variants associated with primary familial brain calcification in the patient and family members.
Head CT demonstrated extensive bilateral calcifications in the basal ganglia and subcortical frontal white matter despite completely normal neurological, laboratory, and neurophysiological evaluations.
Genetic analysis identified a shared heterozygous missense variant in the SLC20A2 gene in both the asymptomatic patient and her asymptomatic father.

Cite This Study

Tsuchiya et al. (2026) studied this question.

synapsesocial.com/papers/6a85633c03308d306e2d64c6 https://doi.org/10.1016/j.bdcasr.2026.100154

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