摘要
背景：孤立性先天嗅覺全失患者約占總人口約萬分之五，且不易早期診斷，到目前為止相關的研究並不多。此研究主要是報告台北榮總近7年來評估及診斷此類病人的結果。方法：本研究以回溯性方式，經由病歷紀錄，收集2005年5月至2012年1月間，主訴有記憶以來就有嗅覺障礙至本院門診求診的病人。使用問卷調查的方式來詳細的詢問並記錄嗅覺障礙的病史，並排除其他可能造成嗅覺喪失的病因，共計28名。所有患者皆進行鼻內視鏡檢查，嗅覺功能測定。其中18名病人接受磁振照影檢查，主要是用來檢查嗅球，嗅徑及嗅溝。結果：28名病人平均診斷年齡為41.6歲（範圍20到64歲），有2名有家族病史。鼻內視鏡檢查嗅裂皆是暢通的，而嗅覺檢查結果皆是嗅覺全失。共有18名病人接受磁振造影檢查，7名病人為雙側嗅球沒有發育，6名病人為雙側嗅球發育不全，且其中1名病人合併嗅徑沒有發育，2名病人單側嗅球沒有發育，另一側嗅球則為發育不全。在此15名病人中，2名病人合併嗅溝沒有發育，另外有3名病人合併嗅溝較淺。結論：早期診斷出孤立性先天嗅覺全失的病人單靠病史詢問並不容易。還需要配合鼻內視鏡檢查，嗅覺檢查，和影像檢查。磁振造影檢查對於嗅覺系統的評估有很大的幫助，另一方面也可以評估是否有其他顱顏異常來進一步做鑑別診斷。
並列摘要
BACKGROUND: Isolated congenital anosmia (ICA) is extremely rare and tends to present late. We report on a series of patients with isolated congenital anosmia to show how we evaluate these patients and analyze its clinical characteristics. MATERIALS AND METHODS: Patients were required to have had a history of olfactory dysfunction continuously since the patients had memory. At initial presentation, a detailed history of olfactory dysfunction was established with the use of a questionnaire. All patients underwent nasal endoscopic examinations and olfactory function. MRI was arranged to examine the brain, olfactory bulbs and tracts. RESULTS: 28 patients (age range 20-64 years, mean age 41.6 years) with ICA were evaluated. Two patients has family history of ICA. Sinonasal endoscopy revealed all patient with patent olfactory cleft, and all patients are anosmia according to the results of olfactory test. 18 patients received MRI examination of brain. Seven patients with ICA had bilateral aplastic olfactory bulbs. Six patients with ICA had bilaterally hypoplastic olfactory bulbs whereas absence of the olfactory tract was found in one patient. Two patients with ICA had aplastic olfactory bulbs on one side and hypoplastic olfactory bulbs on the other side. In these fifteen patients, absence of the olfactory sulcus was found in two patients, and diminished depth of the olfactory sulcus was found in three patients. CONCLUSIONS: Early diagnosis of ICA on the basis of olfactory symptoms is difficult. Sinonasal endoscopy, olfactory test, and olfactory image facilitate the diagnosis. MRI of the olfactory pathway plays an important role in anatomic location.
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