Topuzova M P, Ternovykh I K, Shustova T A, Mikheeva A Yu, Chistyakova A O, Pavlova T A, Dudnikova N E, Pospelova M L, Alekseeva T M
Almazov National Medical Research Centre, St Petersburg, Russia.
Zh Nevrol Psikhiatr Im S S Korsakova. 2023;123(2):144-150. doi: 10.17116/jnevro2023123021144.
The article presents a progressive neurodegenerative disease - multisystem atrophy, characterized by a combination of autonomic failure and various motor disorders, including parkinsonism and/or cerebellar ataxia; etiopathogenetic factors and variants of the clinical picture are described. We describe own clinical observation of a 59-old patient with cerebellar and bulbar syndromes, parkinsonism, pyramidal insufficiency, cognitive deficits, and autonomic dysfunction. The differential diagnosis included a whole range of neurodegenerative and hereditary diseases: Parkinson's disease, vascular parkinsonism, progressive supranuclear palsy, spinocerebellar ataxia, FXTAS, mitochondrial encephalopathies. The moderate severity of parkinsonism and the significant predominance of cerebellar symptoms and autonomic dysfunction make this clinical case difficult to diagnose. However, based on the life and disease history, clinical picture and research methods, a diagnosis of multiple system atrophy, cerebellar type (cerebellar, autonomic, bulbar syndrome, parkinsonism, pyramidal insufficiency and moderate cognitive impairment) was established. Differential search in such patients is a difficult task and includes a whole range of neurodegenerative and hereditary diseases due to the similarity of individual clinical and neuroimaging features and, unfortunately, the limited availability of molecular genetic diagnostic methods. However, earlier diagnosis is necessary to focus in time on the development of a personalized approach to the management of each such patient, taking into account the rate of symptoms development and steady progression, in order to ensure the longest possible survival time with an acceptable level of quality of life.
本文介绍了一种进行性神经退行性疾病——多系统萎缩，其特征是自主神经功能衰竭与各种运动障碍相结合，包括帕金森综合征和/或小脑共济失调；文中描述了其病因发病因素和临床表现的变体。我们描述了对一名59岁患有小脑和延髓综合征、帕金森综合征、锥体功能不全、认知缺陷和自主神经功能障碍患者的临床观察。鉴别诊断包括一系列神经退行性和遗传性疾病：帕金森病、血管性帕金森综合征、进行性核上性麻痹、脊髓小脑共济失调、脆性X相关震颤/共济失调综合征、线粒体脑病。帕金森综合征的中度严重程度以及小脑症状和自主神经功能障碍的显著优势使得该临床病例难以诊断。然而，根据患者的生活史和疾病史、临床表现及研究方法，最终确诊为多系统萎缩小脑型（小脑、自主神经、延髓综合征、帕金森综合征、锥体功能不全和中度认知障碍）。对这类患者进行鉴别诊断是一项艰巨的任务，由于个体临床和神经影像学特征的相似性，以及不幸的是分子遗传学诊断方法的可用性有限，鉴别诊断包括一系列神经退行性和遗传性疾病。然而，早期诊断对于及时关注为每位此类患者制定个性化治疗方案非常必要，要考虑症状发展速度和稳定进展情况，以确保患者在可接受的生活质量水平下尽可能延长生存时间。
