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1例43岁女性患者,自诉四肢无力、肌肉酸痛约18年,呼吸困难3个月,于2001年10月24日再次入院。其母发现该患者5岁开始即易跌倒,举手过肩困难,未介意。自1983年起四肢无力症状逐渐加重,多家就诊,诊断不明。于1994年1月19日首次入院,纵隔CT扫描发现前上纵隔脂肪块影,提示脂肪胸腺瘤,被忽略。后于外院经股四头肌活检、烟酰胺腺嘌呤二核苷酸四氯唑还原酶(NADH-TR)染色确诊为中央轴空病。本次住院前3个月反复呼吸肌麻痹,入院后经静脉注射甲泼尼龙及胸腺切除,恢复自主呼吸。病理检查确诊为重症肌无力伴脂肪胸腺瘤。本文主要分析和评述该病例的诊断过程、确诊的根据和教训。
A 43-year-old woman complained of limb weakness, muscle soreness for about 18 years, and difficulty breathing for 3 months. She was admitted again on October 24, 2001. His mother found that the patient fell easily at the age of 5, raised her hand over her shoulder and did not mind. Since 1983, symptoms of limb weakness gradually aggravated, many visits, the diagnosis is unknown. On January 19, 1994, the first hospital admission, mediastinum scan revealed anterior mediastinum fat block shadow, suggesting that fat thymoma was ignored. After the quadriceps femoris biopsy outside the hospital, niacinamide adenine dinucleotide tetrazolium reductase (NADH-TR) staining was diagnosed as central axis disease. Respiratory muscle paralysis was repeated 3 months before the hospitalization. After admission, methylprednisolone and thymectomy were intravenously administered to restore spontaneous breathing. Pathological examination confirmed myasthenia gravis with fat thymoma. This article mainly analyzes and comments on the diagnosis of the case, the basis for diagnosis and lessons learned.