Perkin G D, Murray-Lyon I
Department of Neuroscience and Psychological Medicine, The Hammersmith Trust Hospitals, London, UK.
J Neurol Neurosurg Psychiatry. 1998 Sep;65(3):291-300. doi: 10.1136/jnnp.65.3.291.
Both achalasia and Hirchsprung's disease arise from defects of innervation of the oesophagus and distal large bowel respectively. Their consequences are confined to disorders of motility in the relevant part of the gastrointestinal tract. Many neurogenic and primary muscle disorders are associated with abnormalities of gut motility. Stroke, even when unilateral, is commonly associated with dysphagia. Transcranial magnetoelectric stimulation has established that the pharyngeal phase of swallowing tends to receive its innervation principally from one hemisphere. In many neurological disorders, dysphagia is only one part of the clinical picture but in some--for example, the Chiari malformation--dysphagia may be the sole or major feature. Disturbances of small and large bowel motility, when seen in neurogenic disorders, are associated with autonomic neuropathy and are particularly common in diabetes mellitus. Primary muscle disorders can lead to dysphagia (for example, with polymyositis or oculopharyngeal dystrophy) or defects of large bowel motility (for example, with Duchenne's muscular dystrophy). Primary gut disorders particularly associated with neurological disease include pernicious anaemia, nicotinamide and thiamine deficiencies, selective vitamin E deficiency, and coeliac disease. Inflammatory bowel disease is associated with thromboembolic complications which may include the CNS, inflammatory muscle disease, and abnormalities on MRI of the brain of uncertain relevance. Whipple's disease is a rare condition which sometimes is largely or entirely confined to the CNS. In such cases, a particular neurological presentation can indicate the diagnosis.
贲门失弛缓症和先天性巨结肠病分别源于食管和远端大肠的神经支配缺陷。它们的后果仅限于胃肠道相关部位的运动障碍。许多神经源性和原发性肌肉疾病都与肠道运动异常有关。中风即使是单侧的,也通常与吞咽困难有关。经颅磁电刺激已证实,吞咽的咽部阶段往往主要从一个半球接受神经支配。在许多神经系统疾病中,吞咽困难只是临床表现的一部分,但在某些疾病中——例如,Chiari畸形——吞咽困难可能是唯一或主要特征。在神经源性疾病中出现的小肠和大肠运动障碍与自主神经病变有关,在糖尿病中尤为常见。原发性肌肉疾病可导致吞咽困难(例如,多发性肌炎或眼咽型肌营养不良)或大肠运动缺陷(例如,杜氏肌营养不良)。与神经系统疾病特别相关的原发性肠道疾病包括恶性贫血、烟酰胺和硫胺缺乏、选择性维生素E缺乏以及乳糜泻。炎症性肠病与血栓栓塞并发症有关,这些并发症可能包括中枢神经系统、炎症性肌肉疾病以及脑部MRI上相关性不确定的异常。惠普尔病是一种罕见疾病,有时在很大程度上或完全局限于中枢神经系统。在这种情况下,特定的神经学表现可以提示诊断。