腓骨肌萎缩症4例误诊分析并文献复习

Misdiagnosis Analysis of 4 Cases of Peroneal Muscular Atrophy and Literature Review

目的:探讨腓骨肌萎缩症的不典型临床表现及误诊原因。方法:对我院误诊的1例腓骨肌萎缩症进行回顾性分析,并通过中国知网、万方医学网,输入“腓骨肌萎缩症、误诊”进行文献检索,查找到既往误诊3例,对4例患者的误诊原因进行分析。结果:4例患者分别被误诊为:干眼症(误诊时间2年)、原发性视神经萎缩(误诊34年)、慢性阻塞性肺疾病,慢性肺源性心脏病(误诊8年)及腰椎间盘突出并椎管狭窄症(误诊10年)。诊断明确后嘱患者注意休息,勿过度劳累,避免剧烈运动,给予口服甲钴胺、维生素B1、维生素C及针灸、理疗等治疗。经随访,患者症状均无明显改善,缓慢进展。结论:因本病早期临床表现不典型,医生对本病了解掌握不够,导致误诊率高。下一步应加强学习,拓宽知识面,提高对神经科少见疾病的认识。临床中应进行规范全面细致的查体,避免先入为主,要加强与相关科室的沟通,必要时进行会诊,集思广益。

Objective: To explore the atypical clinical manifestations and misdiagnosis reasons of peroneal muscular atrophy. Methods: A retrospective analysis was conducted on one misdiagnosed case of peroneal muscular atrophy in our hospital, and literature search was conducted by inputting “Peroneal muscular atrophy and misdiagnosis” through CNKI and Wanfang Medical Network. Three previous misdiagnosis cases were found, and the causes of misdiagnosis in four patients were analyzed. Result: Four patients were misdiagnosed as dry eye syndrome (misdiagnosed for 2 years), primary optic nerve atrophy (misdiagnosed for 34 years), chronic obstructive pulmonary disease, chronic pulmonary heart disease (misdiagnosed for 8 years), and lumbar disc herniation with spinal stenosis (misdiagnosed for 10 years). After the diagnosis was clear, all the patients were instructed to take a rest, avoid overwork and strenuous exercise. Oral mecobalamin, vitamin B1, vitamin C, acupuncture and moxibustion, physiotherapy and other treatments were given. After follow-up, the patients’ symptoms did not improve significantly, but progressed slowly. Conclusion: Due to atypical early clinical manifestations of this disease and insufficient understanding and mastery by doctors, the misdiagnosis rate is high. The next step is to strengthen learning, broaden knowledge, and improve understanding of rare neurological diseases. In clinical practice, standardized, comprehensive, and meticulous physical examinations should be conducted. We should avoid preconceptions. Communication with relevant departments should be strengthened, and consultations should be conducted if necessary to gather wisdom.