Magnetic Resonance Imaging for Diagnosis of Congenital Anosmia

Abstract

Magnetic Resonance Imaging (MRI) was performed on 9 patients who lacked a sense of smell since birth. Seven of them, including two patients with Kallmann syndrome, exhibited abnormality of the olfactory bulb, olfactory tract, olfactory sulcus, or rectus gyrus, with some variation among patients in type and degree of abnormality. The other two patients exhibited normal olfactory pathway morphology, and for them the possibility of acquired sensorineural anosmia could not be ruled out. MRI is useful for determining whether patients with congenital anosmia have olfactory pathway anomalies. Many patients with congenital anosmia and hypoplasty or aplasty of the olfactory pathway nevertheless had no gonadal or endocrinological disorders.

Isolated and syndromic forms of congenital anosmia

“…Abolmaali et al analysed 16 patients with ICA, and found aplasia or hypoplasia of the OB as well as diminished depth of the olfactory sulcus in all patients (16). Similar results have been obtained in other studies of ICA patients (13, 18, 33, 39, 40). However, only two patients had a family history of anosmia (13, 39).…”

“…Similar results have been obtained in other studies of ICA patients (13,18,33,39,40). However, only two patients had a family history of anosmia (13,39). Also, there may be clinical support for the existence of genetic heterogeneity in ICA, as there were no anatomical abnormalities detected by MRI in two Iranian families with ICA (24) or in a Danish women with ICA and self-reported family history (12).…”

Expanding the clinical and neuroradiological phenotype of 6q27 microdeletion: Olfactory bulb aplasia and anosmia

“…Of the patients described with isolated congenital anosmia [Abolmaali et al, 2002] some might have an undiagnosed genetic disorder, such as a terminal 6q deletion as seen in Patient 2. The majority of patients with congenital anosmia do not present with gonadal, endocrinological, or other disorders [Aiba et al, 2004].…”

Les hypogonadismes hypogonadotrophiques congénitaux masculins, quelles données récentes ?

“…De nombreuses autres études ont été réalisées depuis, avec des résultats similaires consistant en une atrophie ou une absence des bulbes olfactifs alors que l'aspect des sillons olfactifs est variable [12,13].…”