先天性嗅覚障害の2例

抄録

Congenital anosmia is a rare condition, and some individuals may not even consider consulting an otolaryngologist.

We encountered two cases of congenital anosmia, with both individuals reportedly lacked the sense of smell since birth. Both were referred to our clinic by a local otolaryngologist for further evaluation of the anosmia. The mother of one was curious about the lack of a sence of smell in her child, which led her to seek an otolaryngologist consultation. Neither patient had any significant past medical history. Standard olfactory tests revealed no significant findings in either case. There were no abnormal nasal findings either of the patients. Head MRI revealed aplasia in the olfactory bulb and olfactory sulcus, leading to a diagnosis of congenital olfactory dysfunction in both patients. Blood test results confirmed the absence of gonadal insufficiency.

Herein, we summarize the clinical and imaging characteristics of reported cases, to date, in Japan of congenital anosmia. It is important for otolaryngologists to be aware that this condition could be associated with hypogonadism and such diseases as Kallmann syndrome, which require prompt treatment.