[Congenital anosmia : a practical diagnostic approach].

Abstract

Congenital anosmia is a rare disorder defined by the absence of the sense of smell since birth. It can mostly be an isolated condition or more rarely part of a syndromic presentation, such as Kallmann syndrome, which predominantly affects males. Diagnosis relies on a targeted medical history, an ENT examination including nasal endoscopy, validated psychophysical olfactory testing and MRI focused on the olfactory pathways. Endocrine and genetic investigations should be guided by associated clinical features. As there is no validated curative treatment, management relies on patient education, prevention of household and dietary risks, and specialist referral for syndromic forms.