title: Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.
abstract: Olfactory bulb (OB) volume evaluation by magnetic resonance imaging (MRI) has been demonstrated to be related to olfactory dysfunction in many different diseases. Olfactory dysfunction is often overlooked in Bardet-Biedl syndrome (BBS) patients and is rarely objectively evaluated by MRI. We present a series of 20 BBS patients with olfactory dysfunction. The OB was evaluated separately and blindly by two radiologists (SR and SM) with 3 Tesla MRI imaging comparatively to 12 normal control subjects by global visual evaluation and by quantitative measurement of OB volume. In the 12 control cases OB visual evaluation was considered as normal in all cases for radiologist (SR) and in 10 cases for radiologist (SM). In the 20 BBS patients, OB visual evaluation was considered as abnormal in 18 cases for SR and in all cases for SM. OB volumetric evaluation for SR and SM in BBS patients was able to provide significant correlation between BBS and olfactory dysfunction. This study indicates that OB volume evaluation by MRI imaging like structural MRI scan for gray matter modifications demonstrates that olfactory dysfunction in BBS patients is a constant and cardinal symptom integrated in a genetical syndrome with peripheral and central olfactory structure alterations.
authors.affiliation: Service ORL-CCF, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: J J
authors.initials: JJ
authors.lastname: Braun
authors.affiliation: Laboratoire ICUBE, UMR CNRS 7357, Strasbourg, France.
authors.forename: V
authors.initials: V
authors.lastname: Noblet
authors.affiliation: Laboratoire ICUBE, UMR CNRS 7357, Strasbourg, France.|Service de Radiologie 2, Hôpitaux Universitaires de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: S
authors.initials: S
authors.lastname: Kremer
authors.affiliation: Service de Radiologie 2, Hôpitaux Universitaires de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: S
authors.initials: S
authors.lastname: Molière
authors.affiliation: Service de Génétique Médicale, centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.|Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: H
authors.initials: H
authors.lastname: Dollfus
authors.affiliation: Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: V
authors.initials: V
authors.lastname: Marion
authors.affiliation: Service de Génétique Médicale, centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: N
authors.initials: N
authors.lastname: Goetz
authors.affiliation: Laboratoire de Génétique Médicale, INSERM U1112, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.|Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: J
authors.initials: J
authors.lastname: Muller
authors.affiliation: Service de Radiologie 1, Hôpitaux Universitaires de Strasbourg, Fédération de Médecine Translationnelle de Strasbourg (FMTS), Université de Strasbourg, Strasbourg, France.
authors.forename: S
authors.initials: S
authors.lastname: Riehm
mesh_terms: D000293:Adolescent; D000328:Adult; D020788:Bardet-Biedl Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D015870:Gene Expression; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D005810:Multigene Family; D009154:Mutation; D000857:Olfaction Disorders / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D009830:Olfactory Bulb / Q000000981:diagnostic imaging* / Q000378:metabolism / Q000473:pathology; D009929:Organ Size / Q000235:genetics; D020033:Protein Isoforms / Q000235:genetics / Q000378:metabolism; D012903:Smell / Q000502:physiology
chemical_list: C464790:Bbs1 protein, human; D008869:Microtubule-Associated Proteins; D020033:Protein Isoforms
keywords: Bardet-Biedl syndrome; MRI; anosmia; dysosmia; olfaction; olfactory bulb