Oesophageal Dysmotility in a Patient with Charcot-Marie-Tooth Disease: Report and Literature Review.

Q3 Medicine
European journal of case reports in internal medicine Pub Date : 2025-03-17 eCollection Date: 2025-01-01 DOI:10.12890/2025_005219
Mohammad Kloub, Abdul-Rahman I Abusalim, Mohamed Eldesouki, Mohammad Abushanab, Byron Okwesili, Raed Atiyat, Yatinder Bains
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引用次数: 0

Abstract

Oesophageal dysmotility is a serious condition characterised by impaired coordination of oesophageal smooth muscle contractions, which can be secondary to a variety of causes including infection, inflammation and malignancy. The presenting symptoms are variable and include chest or epigastric pain, food regurgitation, heartburn or cough, making it difficult to distinguish. Diagnostic modalities and treatment strategies vary depending on the underlying cause. Once oesophageal dysmotility is suspected, a thorough evaluation is essential as the management strategies and prognosis of the condition differ significantly based on the underlying pathology. A multidisciplinary approach and clinical expertise are essential for optimal patient care and treatment. While neuromuscular disorders are associated with swallowing dysfunction due to oropharyngeal muscle involvement, oesophageal smooth muscles involvement is rare. This case highlights the importance of careful and frequent evaluation of both respiratory and gastrointestinal smooth muscle function, particularly in patients with chronic neurological disorders.

Learning points: Charcot-Marie-Tooth disease has the potential to involve smooth muscles, including those of the diaphragm and gastrointestinal tract.Regular and detailed evaluation of respiratory and swallowing functions is advised for patients with neurological disorders to monitor for early signs of dysfunction.Aspiration pneumonia should always be in the differential in patients with recurrent pneumonia and warrants thorough evaluation to ensure appropriate diagnosis and management.

腓骨肌-玛丽-牙病患者的食管运动障碍:报告和文献回顾。
食管运动障碍是一种以食管平滑肌收缩协调性受损为特征的严重疾病,可继发于多种原因,包括感染、炎症和恶性肿瘤。表现出的症状多种多样,包括胸部或上腹部疼痛、食物反流、胃灼热或咳嗽,使其难以区分。诊断方式和治疗策略因病因而异。一旦怀疑食管运动障碍,就必须进行彻底的评估,因为根据潜在病理的不同,治疗策略和预后有很大差异。多学科方法和临床专业知识对于最佳患者护理和治疗至关重要。虽然神经肌肉疾病与吞咽功能障碍有关,由于口咽肌受累,食道平滑肌受累是罕见的。本病例强调了仔细和频繁评估呼吸和胃肠道平滑肌功能的重要性,特别是在慢性神经系统疾病患者中。学习要点:腓骨肌萎缩症有可能累及平滑肌,包括膈肌和胃肠道。建议对神经系统疾病患者进行定期和详细的呼吸和吞咽功能评估,以监测功能障碍的早期迹象。吸入性肺炎应始终作为复发性肺炎患者的鉴别诊断,并应进行彻底的评估,以确保适当的诊断和管理。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
2.10
自引率
0.00%
发文量
166
审稿时长
8 weeks
期刊介绍: The European Journal of Case Reports in Internal Medicine is an official journal of the European Federation of Internal Medicine (EFIM), representing 35 national societies from 33 European countries. The Journal''s mission is to promote the best medical practice and innovation in the field of acute and general medicine. It also provides a forum for internal medicine doctors where they can share new approaches with the aim of improving diagnostic and clinical skills in this field. EJCRIM welcomes high-quality case reports describing unusual or complex cases that an internist may encounter in everyday practice. The cases should either demonstrate the appropriateness of a diagnostic/therapeutic approach, describe a new procedure or maneuver, or show unusual manifestations of a disease or unexpected reactions. The Journal only accepts and publishes those case reports whose learning points provide new insight and/or contribute to advancing medical knowledge both in terms of diagnostics and therapeutic approaches. Case reports of medical errors, therefore, are also welcome as long as they provide innovative measures on how to prevent them in the current practice (Instructive Errors). The Journal may also consider brief and reasoned reports on issues relevant to the practice of Internal Medicine, as well as Abstracts submitted to the scientific meetings of acknowledged medical societies.
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