肌萎缩侧索硬化叠加帕金森综合征临床分析

本文报道了广东省人民医院2例肌萎缩侧索硬化叠加帕金森综合征（ALS-PS）患者的诊断过程，通过文献复习分析了肌萎缩侧索硬化叠加综合征（ALS-Plus）的临床特征、发病率、预后以及可能的发病机制。例1患者表现出运动迟缓和铅管样肌强直的帕金森综合征，左旋多巴冲击试验阴性，无嗅觉减退和痴呆，我们诊断为未分化的ALS-PS。例2患者不仅表现出运动迟缓和铅管样肌强直，同时还有小脑、自主神经功能受累的表现，可以归结到MSA的诊断，故诊断为ALS-MSA。ALS-Plus约占所有ALS患者的13.6%，并且较单纯ALS患者有更短的生存时间。尽管相关研究尝试为ALS-Plus提供合理的解释，但目前具体发病机制仍不完全清楚，有待进一步的研究。ALS-Plus在ALS中并不罕见，但在临床上容易被忽略，一方面因为ALS-Plus对其他系统特别是锥体外系的损伤常常被严重的肌萎缩、肌无力症状所掩盖；另一方面在于神经科医生仍对其缺乏充分的认识。因此，我们认为神经科医生应该加强对ALS-Plus的认识，详细的病史和体格检查有助于避免误诊及漏诊。

Amyotrophic lateral sclerosis-parkinsonism: An analysis of two cases and literature review

This article reports the diagnostic process for two patients with amyotrophic lateral sclerosis-parkinsonism (ALS-PS) in Guangdong Provincial People's Hospital, and analyzes the clinical features, incidence, prognosis, and possible pathogenesis of amyotrophic lateral sclerosis-plus syndrome (ALS-Plus) through literature review. Case 1 presented with parkinsonism of bradykinesia and lead-pipe rigidity, with a negative levodopa challenge test and without hyposmia and dementia; we considered this case as undifferentiated ALS-PS. Case 2 showed the clinical manifestations of bradykinesia and lead-pipe rigidity, as well as cerebellar and autonomic dysfunction, which could be attributed to a diagnosis of multiple system atrophy (MSA), and therefore, we considered this case as ALS-MSA. Among all patients with ALS, those with ALS-Plus accounted for approximately 13.6% and tended to have a shorter survival time than the patients with ALS alone. Related studies have tried to give a reasonable explanation for ALS-Plus, but the pathogenesis of this remains unclear, and further studies are needed for clarification. ALS-Plus is not rare in ALS, but it is easily neglected in clinical practice, as the damage to other systems, particularly the extrapyramidal system, in ALS-Plus is often covered by severe muscle atrophy and muscle weakness, and the neurologists still have no sufficient knowledge of ALS-Plus. Therefore, the awareness of this disease should be improved among neurologists, and detailed medical history and physical examination can help to avoid misdiagnosis and missed diagnosis.