Jafek B W, Gordon A S, Moran D T, Eller P M
Department of Otolaryngology, Head and Neck Surgery, University of Colorado School of Medicine, Denver.
Ear Nose Throat J. 1990 May;69(5):331-7.
Seven patients with congenital anosmia underwent detailed chemosensory evaluation, followed by the performance of biopsies of the olfactory region. Olfactory epithelium was not found in any of the biopsy specimens. It appears therefore that patients with congenital anosmia lack any olfactory epithelium. Several possible explanations for this finding are discussed. The most attractive hypothesis is that the olfactory placode forms either normally or abnormally during development but later degenerates and is replaced with respiratory epithelium. Only one patient in our series had congenital anosmia in association with a syndrome (Kallmann's syndrome), indicating that congenital anosmia is found more often as an isolated symptom.
七名先天性嗅觉丧失患者接受了详细的化学感觉评估，随后对嗅觉区域进行了活检。在任何活检标本中均未发现嗅觉上皮。因此，先天性嗅觉丧失患者似乎缺乏任何嗅觉上皮。文中讨论了这一发现的几种可能解释。最有吸引力的假设是，嗅觉基板在发育过程中正常或异常形成，但随后退化并被呼吸道上皮取代。在我们的系列病例中，只有一名患者的先天性嗅觉丧失与一种综合征（卡尔曼综合征）相关，这表明先天性嗅觉丧失更常作为一种孤立症状出现。
