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題名 | Tuberous Sclerosis Complex Suspected in Young Female Presenting with Spontaneous Pneumothorax=結節性硬化症應列入年輕女性自發性氣胸患者之鑑別診斷 |
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作者姓名(中文) | 林巧峯; 童詠偉; 蔡青劭; | 書刊名 | 胸腔醫學 |
卷期 | 26:1 2011.02[民100.02] |
頁次 | 頁54-61 |
分類號 | 415.434 |
關鍵詞 | 女性; 非吸煙; 氣胸; 結節性硬化症; 肺淋巴管平滑肌增生症; Female nonsmoker; Lymphangioleiomyomatosis; Pneumothorax; Tuberous sclerosis; |
語文 | 英文(English) |
中文摘要 | 自發性氣胸為一常見且常需緊急處理之疾病,好發於瘦高之年輕男性。若發生於年輕、未抽煙之女性,則要懷疑是否有其它原因造成。本例為一年輕不高不瘦不抽煙之女性反覆氣胸發作。其症狀包括喘、血尿、尿路感染、輕度智能障礙、癲癇、酸中毒。胸腔鏡下看見瀰漫性多發肺囊泡。肺臟切片之病理報告為淋巴管平滑肌增生症。病人亦有腎臟血管脂肪瘤,臉部血管纖維瘤,指甲纖維瘤,皮膚鯊魚皮斑,灰葉狀白斑,腦部皮質結節,腦室下結節及卵巢囊腫,故診斷為結節性硬化症。病人之母親及女兒亦有結節性硬化症之徵兆。自發性氣胸之育齡女性應懷疑是否有淋巴管平滑肌增生症,結節性硬化症雖稀少,但亦應列入鑑別診斷。 |
英文摘要 | Spontaneous pneumothorax is a commonly encountered medical condition that may often require emergency treatment. It has a predilection to occur in tall, thin, young males. A high degree of suspicion for other etiologies should be had when spontaneous pneumothorax occurs in young females, especially in non-smokers. This case report presents a non-smoking young female patient who was neither tall nor thin, and who experienced repeated attacks of spontaneous pneumothorax. Her other presentations included dyspnea, hematuria, urinary tract infection, mild mental retardation, seizure disorder, and acidosis. Thoracoscopy revealed multiple diffuse lung cysts. Lung biopsy was performed, and lymphangioleiomyomatosis (LAM) was diagnosed based on the pathologic results. The concurrent presence of renal angiolipomas, facial angiofibromas, ungual fibromas, hypomelanotic macules, shagreen patches, cortical tuber, subependymal nodules, and an ovarian cyst in this patient led to the diagnosis of tuberous sclerosis complex (TSC). With detailed history taking and physical examinations, we discovered that her mother and daughter also fulfilled some of the criteria of TSC. We therefore made the diagnosis of familial TSC. LAM should be suspected in female patients of childbearing age presenting with pneumothorax. TSC, though rare, ought to be considered in LAM patients. |
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