Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014848 (achalasia)
 2,804 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 65-year old man suffering from dysphagia with aspiration was examined. ENT examination showed a Horner syndrome and cranial nerve palsy with paralysis of the soft palate and one vocal cord (palatolaryngeal hemiplegia, Avellis' syndrome). Pharyngeal manometry and videofluoroscopy depicted an asynergic swallowing with cricopharyngeal achalasia. CT scans of mediastinum, head, neck, and skull base showed no signs of abnormality. MR imaging of the brain stem demonstrated an enrichment of contrast medium in the dorsal region of the upper medulla oblongata in the level of the centre of the glossopharyngeal and vagus nerve. This case demonstrates an uncommon cause of dysphagia which was related to transitory brain stem ischaemia. After a period of three weeks the patients' complaints vanished as well as the clinical features. In a follow-up of MR-imaging three months later no focal enhancement of contrast medium was seen confirming the diagnosis of a brain stem ischaemic lesion.
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PMID:["Palatolaryngeal hemiplegia" in transient brain stem ischemia--a contribution to neurogenic dysphagia]. 146 69

Chronic intestinal pseudoobstruction (CIP) can be a severe burden and even a life-threatening disorder. Typically, several years of uncertainty are passing before diagnosis. We are reporting the case of a young woman with a decade of severe, progressive gastrointestinal dysmotility. Unusually, she had also developed an autonomic neuropathy, and a stiff limb syndrome.In addition to achalasia and CIP the young woman also developed neuropathic symptoms: orthostatic intolerance, urinary retention, a Horner syndrome, and lower limb stiffness. Careful interdisciplinary diagnostics excluded underlying infectious, rheumatoid, metabolic or tumorous diseases.The detection of GAD (glutamic acid decarboxylase) antibodies, however, seemed to link CIP, autonomic neuropathy, and limb stiffness and pointed at an autoimmune origin of our patient's complaints. This was supported by the positive effects of intravenous immunoglobulin. In response to this therapy the body weight had stabilized, orthostatic tolerance had improved, and limb stiffness was reversed.The case suggested that GAD antibodies should be considered in CIP also in nondiabetic patients. This may support earlier diagnosis and immunotherapy.
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PMID:GAD Antibodies as Key Link Between Chronic Intestinal Pseudoobstruction, Autonomic Neuropathy, and Limb Stiffness in a Nondiabetic Patient: A CARE-Compliant Case Report and Review of the Literature. 2625 89