Cerejo Clancy, De Cleene Nicolas, Walser Gerald, Djamshidian Atbin, Seppi Klaus, Heim Beatrice
Department of Neurology, Medical University of Innsbruck, Innsbruck, Austria.
Front Neurosci. 2024 Nov 27;18:1483587. doi: 10.3389/fnins.2024.1483587. eCollection 2024.
DiGeorge syndrome, also referred as 22q11.2 deletion syndrome is a multisystem disorder associated with an increased risk of early-onset parkinsonism. In this case report, we present a case of a 47-year-old male patient with complex comorbidities and seizures. This patient presented with increased seizure frequency and on examination was found to have parkinsonism. Due to the symptoms constellation, a genetic analysis was done which revealed presence of DiGeorge syndrome. However, his DaTscan was normal and hence a possibility of medication induced parkinsonism was considered. Through this case report, we want to emphasize the fact that while it is important to consider genetic testing for young patients with parkinsonism especially in those with complex comorbidities, other possible causes of parkinsonism should not be ignored.
迪乔治综合征,也称为22q11.2缺失综合征,是一种多系统疾病,与早发性帕金森病风险增加有关。在本病例报告中,我们介绍了一名47岁男性患者,他患有复杂的合并症并伴有癫痫发作。该患者癫痫发作频率增加,经检查发现患有帕金森病。由于症状组合,进行了基因分析,结果显示存在迪乔治综合征。然而,他的多巴胺转运体(DaT)扫描结果正常,因此考虑了药物性帕金森病的可能性。通过本病例报告,我们想强调一个事实,即对于患有帕金森病的年轻患者,尤其是那些患有复杂合并症的患者,进行基因检测很重要,但帕金森病的其他可能病因也不应被忽视。