Case Report
Copyright ©The Author(s) 2019. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2019; 7(12): 1483-1491
Published online Jun 26, 2019. doi: 10.12998/wjcc.v7.i12.1483
Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report
Seiju Kobayashi, Kumiko Utsumi, Masaru Tateno, Tomo Iwamoto, Tomonori Murayama, Hitoshi Sohma, Wataru Ukai, Eri Hashimoto, Chiaki Kawanishi
Seiju Kobayashi, Shinyukai Nakae Hospital, Sapporo 0010022, Japan
Seiju Kobayashi, Tomo Iwamoto, Tomonori Murayama, Wataru Ukai, Eri Hashimoto, Chiaki Kawanishi, Department of Neuropsychiatry, Sapporo Medical University Graduate School of Medicine, Sapporo 0608543, Japan
Kumiko Utsumi, Department of Psychiatry, Sunagawa City Medical Center, Sunagawa 0730196, Japan
Masaru Tateno, Tokiwa Child Development Center, Tokiwa Hospital, Sapporo, Japan, Department of Neuropsychiatry, Sapporo Medical University Graduate School of Medicine, Sapporo 0050853, Japan
Hitoshi Sohma, Wataru Ukai, Department of Educational Development, Sapporo Medical University Center for Medical Education, Sapporo 0608543, Japan
Hitoshi Sohma, Department of Biomedical Engineering, Sapporo Medical University, School of Medicine, Sapporo 0608543, Japan
Author contributions: Kobayashi S was the principal investigator, he made manuscript draft preparation, design or conceptualization; Utsumi K made the study supervision, acquisition and collection of data, design or conceptualization; Tateno M made the manuscript draft preparation, design or conceptualization; Iwamoto T and Murayama T made manuscript draft preparation; Sohma H made acquisition and collection of data, analysis and interpretation; Ukai W, Hashimoto E, and Kawanishi C made study supervision.
Supported by the grant-in-Aid for Scientific Research (C) from the Japan Society for the Promotion of Science (JSPS), No. 17K103112.
Informed consent statement: Consent was obtained from relatives of the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Seiju Kobayashi, MD, PhD, Director, Doctor, Department of Neuropsychiatry, Shinyukai Nakae Hospital, North-22, West-7-2-1, Kita-ku, Sapporo 0010022, Japan. seij@pastel.ocn.ne.jp
Telephone: +81-11-7167181 Fax: +81-11-7581451
Received: January 17, 2019
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
Abstract
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: Idiopathic basal ganglia calcification, Fahr’s disease, SLC20A2, Diffuse neurofibrillary tangles with calcification, Single-photon emission computed tomography, Case report

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.