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Case Reports
. 2018 Oct;97(42):e12918.
doi: 10.1097/MD.0000000000012918.

A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter

Byung Dae Lee  1   2   3 , Ja Young Kong  1   2 , Chae Hwa Kwon  2 , Je Min Park  1   2   3 , Young Min Lee  1   2   3 , Eunsoo Moon  1   2   3 , Hee Jeong Jeong  1   2 , Soo Yeon Kim  1   2 , Kang Yoon Lee  1   2 , Hwagyu Suh  1   2
Affiliations
Case Reports

A whole exome sequencing study of a Korean proband with idiopathic basal ganglia calcification and its daughter

Byung Dae Lee et al. Medicine (Baltimore). 2018 Oct.

Abstract

Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurological and psychiatric symptoms. In families displaying an autosomal dominant inheritance pattern, three causative genes have been identified: SLC20A2, PDGFRB, and very recently, PDGFB. While in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrences are rare. We report a case of a 61-year-old woman who presented with depressive and dystonic symptoms revealing IBGC. Her 41-year-old daughter was healthy. In the proband, we identified 4 mutations in PDGFB, and 1 exonic mutation in SLC20A2, all of which were absent in the daughter. These mutations may result in a loss-of-function of PDGF-B or SLC20A2, which has been shown to cause IBGC in humans and disrupts the blood-brain barrier in mice resulting in brain calcification. Herein, we present the occurrence of a sporadic patient of IBGC and its causative mutations.

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Conflict of interest statement

The authors have no conflicts of interest to disclose.

Figures

Figure 1
Figure 1
Brain imaging. Brain CT scans on axial view show focal high density at left frontal lobe and diffuse calcification at both basal ganglia and cerebellum.
See this image and copyright information in PMC

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