Division of Child Neurology and Metabolic Medicine, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
Department of Neuropediatrics, University Hospital of Children, Leipzig, Germany.
Neuropediatrics. 2020 Jun;51(3):192-197. doi: 10.1055/s-0039-3402037. Epub 2020 Feb 11.
The main purpose of this article is to demonstrate the co-occurrence of Axenfeld-Rieger anomaly and neuropsychiatric problems as clinical signs of genetically determined cerebral small vessel disease in two patients.
We report on two adolescent individuals with ocular anterior segment dysgenesis (Axenfeld-Rieger anomaly) presenting with neuropsychiatric symptoms. Both patients underwent cerebral magnetic resonance imaging showing white matter T2-hyperintensities involving different brain regions, suspective of cerebral small vessel disease. Genetic analysis revealed pathogenic mutations in the gene (patient 1) and the gene (patient 2), respectively.
We report on the co-occurrence of ocular anterior segment dysgenesis (Axenfeld-Rieger anomaly) and neuropsychiatric symptoms as clinical signs of genetically determined cerebral small vessel disease in two patients. In both patients, the cerebral lesions involved the frontotemporal regions, brain regions that control social behavior as well as executive and cognitive function, highlighting the fact that neuropsychiatric symptoms may be early clinical presentations of cerebral small vessel disease. We further provide a review of monogenic causes of pediatric cerebral small vessel disease, emphasizing the links to childhood-onset neuropsychiatric disease.
本文的主要目的是展示两例患者眼部前段异常（Axenfeld-Rieger 异常）和神经精神问题作为遗传性脑小血管病的临床标志同时出现的情况。
我们报告了两名青少年个体，他们患有眼部前段发育不良（Axenfeld-Rieger 异常）并伴有神经精神症状。两名患者均行脑磁共振成像检查，显示不同脑区存在脑白质 T2 高信号，提示脑小血管病。基因分析分别显示患者 1 的 基因突变和患者 2 的 基因突变。
我们报告了两名患者眼部前段发育不良（Axenfeld-Rieger 异常）和神经精神症状同时出现作为遗传性脑小血管病的临床标志。在这两名患者中，脑病变均累及额颞叶区域，这些区域控制着社会行为以及执行和认知功能，这突出了神经精神症状可能是脑小血管病的早期临床表现这一事实。我们进一步回顾了儿童脑小血管病的单基因病因，强调了与儿童期神经精神疾病的联系。
