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文献详情 >2例山德霍夫病同胞的自主神经功能障碍性失弛缓症 收藏

2例山德霍夫病同胞的自主神经功能障碍性失弛缓症

Dysautonomic achalasia in two siblings with Sandhoff disease

作     者:Pellegrini M. Zicari E. Teresa Dotti M. Federico A. 牛亚利(译) 

作者机构:不详 Department of Neurological and Behavioural Sciences Unit of Neurometabolic Diseases University of Siena Viale Bracci 2 1 -53100 Siena Italy 

出 版 物:《世界核心医学期刊文摘(神经病学分册)》 (Digest of the World Core Medical Journals:Clinical Neurology)

年 卷 期:2006年第2卷第5期

页      面:51-51页

学科分类:1002[医学-临床医学] 100201[医学-内科学(含:心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 10[医学] 

主  题:食管失弛缓症 自主神经功能 GM2神经节苷脂沉积症 同胞 自主神经系统疾病 障碍性 运动神经元病 食管运动异常 吞咽困难 代谢失常 

摘      要:Two siblings in their sixth decade with chronic Type II GM2 gangliosidosis developed progressive dysphagia in addition to chronic motor neuron disease and autonomic nervous system (ANS) involvement. Esophageal achalasia was diagnosed in both patients. It is suggested that this esophageal motor disorder may be a manifestation of the neurovegetative system disorder due to alteration of ganglioside metabolism.

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