孤立性先天失嗅患者临床观察

摘要

Objective To introduce 8 patients with isolated congenital anosmia and to discuss the clinical manifestations,imaging characteristics and family characteristics of this rarely seen disorder.Methods Eight patients with isolated congenital anosmia treated between April 2007 and April 2012 were reviewed retrospectively.There were 4 males and 4 females.A detailed medical history collection,physical examination,nasal endoscopy,T&T and Sniffin' Sticks subjective olfactory function tests,olfactory eventrelated potentials sinonasal computed tomography scan and sex hormones level monitoring were performed in all patients.Seven cases underwent magnetic resonance image of olfactory pathway examination.Results All patients were anosmias without evidence of other defects.ENT physical examination,nasal endoscopy and computed tomography scan were normal except 4 cases with obvious nasal septum deviation,2 cases with concha bullosa.Subjective olfactory test indicated all of them were anosmia.Olfactory event-related potentials were obtained in only 1 patient.Magnetic resonance imaging revealed the smaller or atrophy olfactory bulb and olfactory tract in five cases,the absence of olfactory bulbs and tracts in two case.A female patient did not have MRI examination because of wearing IUDs.Detection of 8 patients of sex hormones were normal.Family characteristics:3 patients showed family inheritance pattern.Conclusions The diagnosis of isolated congenital anosmia should be based on chief complaint,medical history,physical examination,olfactory test,nasal endoscopy,olfactory testing,olfactory imaging and olfactory event-related potentials.Magnetic resonance image of olfactory pathway and olfactory event-related potentials have important value for the diagnosis.More attention should be paid to the genetic susceptibility of the family.%目的 探讨孤立性先天失嗅患者的临床表现、影像学特点及家系特征.方法 回顾分析2007年4月至2012年4月收治的8例孤立性先天失嗅患者的临床资料.其中男性、女性各4例.患者自幼未闻到过任何气味,全部患者均进行了详细的病史采集、全面体检、T&T和Sniffin' Sticks主观嗅觉功能检查、嗅觉事件相关电位测试、鼻内镜检查和鼻窦CT检查及性激素检测.7例行嗅觉通路MRI检查,1例因佩戴避孕环未进行MRI检查.经内分泌、泌尿外科会诊排除综合征型先天性失嗅.结果 8例患者鼻内镜检查、鼻窦CT检查除4例鼻中隔明显偏曲,2例泡性中鼻甲外,均未见鼻腔、嗅裂占位,主观嗅觉测试均为完全失嗅.嗅觉事件相关电位7例不能引出,1例可以引出.MRI检查:嗅沟不明显,嗅球嗅束未发育者2例.其余5例均有嗅球变形、呈不规则状、结构不清,其中3例嗅束萎缩变细,1例嗅束正常,1例嗅束细短;7例嗅沟均不同程度变浅.8例患者性激素检测均未见异常.3例患者显示出一定的家系特征.结论 孤立性先天失嗅诊断应依据病史、专科体检、嗅觉测试、鼻窦CT、嗅觉事件相关电位以及嗅觉通路MRI检查结果.嗅觉相关电位和嗅觉通路MRI对诊断有重要价值,嗅沟深度小于8 mm,可以作为先天性失嗅的客观指标,部分病例显示出一定的家系特征.