以垂頭為表現的全身性硬化症──多發性肌炎重疊症候群之病例報告

Systemic Sclerosis-Polymyositis Overlap Syndrome with Dropped Head: A Case Report

當病人符合兩種以上結締組織疾病的診斷標準時，謂之罹患重疊症候群。本案例為一位全身性硬化症－多發性肌炎重疊症候群患者，以垂頭症候群為其多發性肌炎之表現。此52歲全身性硬化症的女性，診斷後一個月內出現持續性頸部肌肉無力且逐漸惡化，肌酸磷化酵素等肌肉酵素及紅血球沉降速率數值皆上升，經肌電圖與核磁共振檢查並排除其他因素後，診斷為全身性硬化症合併新發生之多發性肌炎。在給予中等劑量之類固醇治療後，其垂頭症狀獲得改善，並於早期加入免疫抑制劑作為類固醇節用藥物。全身性硬化症－多發性肌炎重疊症候群的臨床表現異質性高，頸部伸肌無力的垂頭症候群更僅有零星案例。故當結締組織疾病出現不典型症狀或混合其他結締組織疾病之徵兆時，重疊症候群應被列入考慮。盼藉此罕見案例報告分享照護過程與經驗，提高對重疊症候群的警覺性，以免錯失治療先機，並避免疾病影響生活品質或威脅生命。

When a patient meets the diagnostic criteria of at least two connective tissue diseases, he/she is described as having an overlap syndrome. We herein reported a patient with systemic sclerosis-polymyositis overlap syndrome, with dropped head as the presenting sign of polymyositis. A 52-year-old woman experienced persistent and progressive neck muscle weakness within a month of being diagnosed with systemic sclerosis, with an elevated erythrocyte sedimentation rate and muscle enzymes such as creatine kinase. Electromyography and magnetic resonance imaging confirmed the diagnosis of systemic sclerosis with new-onset polymyositis, following the exclusion of other conditions. Dropped head was relieved by the early introduction of immunosuppressants such as medium-dose corticosteroids. The clinical manifestations of systemic sclerosispolymyositis overlap syndrome are highly heterogeneous, and dropped head syndrome with neck muscle weakness has rarely been reported. Therefore, when atypical symptoms of connective tissue diseases or signs of multiple connective tissue diseases occur, overlap syndromes should be suspected. It is hoped that this rare case report will raise awareness of overlap syndromes and improve their diagnosis and treatment, thereby preventing the disease from threatening life or impairing the quality of life.