10例特发性基底节钙化家庭成员的纵向观察：病例报告
Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report.
作者信息
Kobayashi Seiju, Utsumi Kumiko, Tateno Masaru, Iwamoto Tomo, Murayama Tomonori, Sohma Hitoshi, Ukai Wataru, Hashimoto Eri, Kawanishi Chiaki
机构信息
Shinyukai Nakae Hospital, Sapporo 0010022, Japan.
Department of Psychiatry, Sunagawa City Medical Center, Sunagawa 0730196, Japan.
出版信息
World J Clin Cases. 2019 Jun 26;7(12):1483-1491. doi: 10.12998/wjcc.v7.i12.1483.
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 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.
背景
家族性特发性基底节钙化（FIBGC）是一种罕见的常染色体显性疾病，可导致基底节和/或小脑齿状核等部位出现双侧钙化。
病例总结
本研究旨在报告在一个家族中观察到的10例FIBGC病例。7例患者在计算机断层扫描中显示有钙化，所有这些患者都携带该突变。然而，没有该突变的个体未显示钙化。7例有钙化的患者中有3例有症状，其余4例无症状。此外，我们对10名受试者进行了为期十年的纵向观察。在本文中，我们主要关注先证者及其儿子的临床病程和神经影像学表现。
结论
需要积累更多与FIBGC表现相关的病例报告并进行进一步研究。
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