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

Background Primary familial brain calcification (PFBC), also referred to as Fahr's disease, is a rare inherited neurological disorder characterized by bilateral basal ganglia calcifications. Although the disorder is most commonly inherited in an autosomal dominant pattern, sporadic cases have also been reported. Calcifications may extend to other brain regions, resulting in heterogeneous clinical manifestations. Patients may either remain asymptomatic or develop cognitive impairment, psychiatric symptoms, or extrapyramidal features. Pediatric-onset PFBC is extremely rare and often incidentally identified. Case presentation Intracranial calcifications, involving the basal ganglia and frontal-lobe gray matter, were incidentally discovered in a 9-year-old girl. Head computed tomography demonstrated bilateral calcifications in the basal ganglia and subcortical white matter of the frontal lobes. The patient had no relevant medical or family history, with unremarkable neurological examination. Comprehensive evaluations, including electroencephalography and ophthalmologic assessment, showed no neurological, immunological, or metabolic abnormalities. Genetic testing identified a heterozygous missense variant in SLC20A2 , the causative gene for PFBC, in both the patient and her father, who was clinically asymptomatic. Radiological findings combined with the SLC20A2 variant confirmed the PFBC diagnosis. Conclusion Despite extensive basal ganglia calcifications, the patient exhibited no neurological or psychiatric manifestations, and laboratory and neurophysiological findings were normal. This discrepancy emphasizes the importance of considering PFBC in pediatric patients with intracranial calcifications, even when lacking symptoms. Early recognition enables longitudinal surveillance and supports appropriate genetic counseling, given the autosomal dominant inheritance pattern. This case also underscores the value of incorporating genetic testing in the evaluation of unexplained pediatric intracranial calcifications.