Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1483
Peer-review started: January 17, 2019
First decision: March 10, 2019
Revised: April 18, 2019
Accepted: May 2, 2019
Article in press: May 2, 2019
Published online: June 26, 2019
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.
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.
The accumulation of more case reports and further studies related to the manifestation of FIBGC are needed.
Core tip: The aim of this study is to report a rare case of familial idiopathic basal ganglia calcification (FIBGC) solely presenting cognitive and behavioural impairments. Since patients with FIBGC show variability in clinical manifestations, even among the families, we should accumulate and report as many cases as possible. Additionally, there are no previous reports that include as many as 10 family members (spanning 3 generations) with genetic information and computed tomography findings that have been observed longitudinally for over ten years. For these reasons, we think that this report is valuable.