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一例误诊为多发性肌炎的脊髓性延髓肌萎缩症:病例报告。

One case of spinal bulbar muscular atrophy misdiagnosed as polymyositis: Case report.

机构信息

Graduate School of Hebei North University, Zhangjiakou, Hebei, China.

Department of Traditional Chinese Medicine, Jitang College, North China University of Technology, Tangshan, Hebei, China.

出版信息

Medicine (Baltimore). 2024 Sep 27;103(39):e39169. doi: 10.1097/MD.0000000000039169.

Abstract

RATIONALE

Spinal bulbar muscular atrophy (SBMA) is a rare X-linked recessive motor neuron degenerative disease. Due to the lack of specificity in its early clinical manifestations, SBMA is easily misdiagnosed. Herein, we present a case in which SBMA was misdiagnosed as polymyositis.

PATIENT CONCERNS

A 58-year-old patient began to develop symptoms of limb weakness 20 years ago and was admitted to the Second Hospital of Hebei Medical University 10 years ago without special treatment. Two years ago, the above symptoms worsened and he was admitted to Peking Union Medical College Hospital. The patient was misdiagnosed as polymyositis. According to the gene mutation characteristics of SBMA, the patient was diagnosed with SBMA.

DIAGNOSES

The result of the Kennedy gene test was positive, and the patient was diagnosed with Kennedy disease.

INTERVENTIONS

After the diagnosis of SBMA, the patient was given symptomatic treatment to alleviate the condition.

OUTCOMES

Conservative treatment after discharge was requested. It is recommended that patients avoid bucking to prevent complications.

LESSONS

This is a case of milder SBMA being misdiagnosed as polymyositis. For patients with weak limbs, the possibility of SBMA should be considered.

摘要

背景

脊髓延髓肌萎缩症(SBMA)是一种罕见的 X 连锁隐性运动神经元退行性疾病。由于其早期临床表现缺乏特异性,SBMA 容易被误诊。本文报道了 1 例误诊为多发性肌炎的 SBMA 患者。

病例介绍

一位 58 岁男性,20 年前开始出现肢体无力症状,10 年前就诊于河北医科大学第二医院,未予特殊治疗。2 年前,上述症状加重,就诊于北京协和医院,患者被误诊为多发性肌炎。根据 SBMA 的基因变异特征,患者被诊断为 SBMA。肯尼迪基因检测结果阳性,最终诊断为肯尼迪病。

治疗

给予对症治疗,缓解病情。

预后

建议患者避免剧烈活动,防止并发症发生。

结论

本例为症状较轻的 SBMA 误诊为多发性肌炎。对于肢体无力的患者,应考虑 SBMA 的可能。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/73c4/11441867/54cc97d9b477/medi-103-e39169-g001.jpg

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