成人发病型亚历山大病临床以帕金森病起病 1 例：发病与遗传易感性相关的共病？
A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?
机构信息
Department of Neurology, Soonchunhyang University Cheonan Hospital, Soonchunhyang University College of Medicine, Cheonan, Republic of Korea.
Department of Radiology, Soonchunhyang University Seoul Hospital, Soonchunhyang University College of Medicine, Seoul, Republic of Korea.
出版信息
BMC Neurol. 2020 Jan 17;20(1):27. doi: 10.1186/s12883-020-1616-8.
BACKGROUND
Alexander disease is a rare neurological disease characterized by progressive spastic quadriparesis and bulbar palsy. Moreover, certain patients with adult-onset Alexander disease were often misdiagnosed as other neurodegenerative disorders.
CASE PRESENTATION
Herein, we report an adult a 58-year-old woman presented with typical parkinsonism with good levodopa-responsiveness. The patient's dopamine transporter scanning showed significant striatal depletion, while her brain magnetic resonance imaging revealed bilateral tadpole shape of medulla oblongata and bilateral high signal intensity at both cerebellar dentate nuclei in T2-weighted images, suggesting the possibility of a genetic disorder beyond Parkinson's disease. The patient's genetic test resulted in known pathogenic glial fibrillary acidic protein variant, indicating Alexander disease.
CONCLUSION
This unique case highlights genetically diagnosed Alexander disease may present with clinical Parkinson's disease.
背景
亚历山大病是一种罕见的神经疾病，其特征为进行性痉挛性四肢瘫痪和延髓性麻痹。此外，某些成年起病的亚历山大病患者常被误诊为其他神经退行性疾病。
病例介绍
本研究报告了一例 58 岁的成年女性，表现为典型的帕金森病，对左旋多巴反应良好。患者的多巴胺转运体扫描显示纹状体明显耗竭，而脑磁共振成像显示延髓双侧呈蝌蚪状，小脑齿状核在 T2 加权图像上双侧高信号强度，提示除帕金森病以外存在遗传疾病的可能。患者的基因检测显示已知的胶质纤维酸性蛋白变异型，提示为亚历山大病。
结论
本病例提示，经基因诊断的亚历山大病可能以临床帕金森病为首发表现。
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