Background: Familial idiopathic basal ganglia calcification (FIBGC) is a rare autosomal dominant disorder that causes bilateral calcification of the basal ganglia and/or cerebellar dentate nucleus, among other locations.
Case summary: The aim of this study is to report 10 cases of FIBGC observed in a single family. Seven patients showed calcification on their computed tomography scan, and all of these patients carried the SLC20A2 mutation. However, individuals without the mutation did not show calcification. Three patients among the 7 with calcification were symptomatic, while the remaining 4 patients were asymptomatic. Additionally, we longitudinally observed 10 subjects for ten years. In this paper, we mainly focus on the clinical course and neuroradiological findings in the proband and her son.
Conclusion: The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.
Keywords: Case report; Diffuse neurofibrillary tangles with calcification; Fahr’s disease; Idiopathic basal ganglia calcification; SLC20A2; Single-photon emission computed tomography.