第二型神經纖維瘤症－病例報告

神經纖維瘤症是一種體顯性遺傳疾病，主要分為兩型：第一型神經纖維瘤症，又名：von Recklinghausen disease和第二型神經纖維瘤症。一般而言，第一型神經纖維瘤症較第二型常見。第一型神經纖維瘤症的主要特徵為表皮神經纖維瘤，色素沉積於皮膚的病兆，稱為牛奶咖啡斑(Caf'e au lait spots)和虹膜上有缺陷瘤稱為Lisch結節(Lisch nodules)。第二型神經纖維瘤症主要特徵具有聽神經許旺氏瘤，大部分患者在正確診斷前都已有相當程度的聽力喪失。我們報告一位四十歲男性，因頭痛及聽力逐漸喪失，曾至其它地區醫院就診，後來轉至本院求診。其母親有類似聽力減弱病史，理學檢查發現右手臂皮膚一節結，腦部磁振造影發現兩側聽神經瘤，另手臂節結病理切片為神經鞘瘤，病患診斷為第二型神經纖維瘤症。我們以此病例，提醒基層醫師對聽力逐漸減退的病人，應注意相關病史詢問及理學檢查並排除第二型神經纖維瘤症的可能性。

關鍵字

無資料

並列摘要

Neurofibromatosis are autosomal dominant disorders which have two distinct forms, neurofibromatosis type 1 (also named von Reclinghausen's disease) and neurofibromatosis type 2. Neurofibromatosis type 1 (NF1) is more common than neurofibromatosis type 2 (NF2). The typical characteristics of NF1 are cutaneous neurofibroma, pigmented lesions of the skin called Cafe au lait spots, and hamartomas of the iris termed Lisch nodules. NF2 is characterized by the presence of bilateral vestibular schwannomas predispose the development of meningiomas, gliomas, and schwannomas of cranial and spinal nerves. Type 2 disease is usually serious, and in most cases there is substantial hearing loss before neurofibromatosis type 2 is suspected. The case presented in this paper is a 40-year-old male who had headache and gradual hearing loss for 4 years. His mother had similar history of hearing loss. On physical examination, there was a skin nodule on the right arm. A brain MRI scan showed bilateral vestibular mass. Subsequent histopathology examination of the skin nodule showed a schwannoma. The patient was diagnosed as neurofibromatosis type 2. This case may serve as a reminder of the importance of related family history and physical examination of patients with headache and gradual hearing loss for the diagnosis of neurofibromatosis type 2.

並列關鍵字

neurofibromatosis ； schwannomas ； hearing loss

被引用紀錄

陳柏秀（2012）。頭頸部神經鞘瘤患者醫療使用情形之效益評估〔碩士論文，中臺科技大學〕。華藝線上圖書館。https://www.airitilibrary.com/Article/Detail?DocID=U0099-0905201314435880

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第二型神經纖維瘤症－病例報告

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