title: [Clinical observation of isolated congenital anosmia].
abstract: 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 event-related 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 anosmia 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.
authors: Department of Otorhinolaryngology Head and Neck Surgery, Beijing Chaoyang Hospital, Beijing 100020, China.
authors: Li
authors: L
authors: Li
authors: Department of Otorhinolaryngology Head and Neck Surgery, Beijing Anzhen Hospital, Beijing 100029, China. Email: weiyongxiang@vip.sina.com.
authors: Yong-xiang
authors: YX
authors: Wei
authors: Ning-yu
authors: NY
authors: Wang
authors: Xu-tao
authors: XT
authors: Miao
authors: Ling
authors: L
authors: Yang
authors: Xiao-hui
authors: XH
authors: Ge
authors: Ying
authors: Y
authors: Wu
authors: Jia
authors: J
authors: Liu
authors: Jun
authors: J
authors: Tian
authors: Kun-yan
authors: KY
authors: Li
authors: Chun-li
authors: CL
authors: Liu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D000857:Olfaction Disorders / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D009833:Olfactory Pathways; D012189:Retrospective Studies; D055815:Young Adult