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Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet-Biedl syndrome.
- Source :
-
Clinical genetics [Clin Genet] 2016 Jul; Vol. 90 (1), pp. 79-83. Date of Electronic Publication: 2016 Jan 08. - Publication Year :
- 2016
-
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.<br /> (© 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
- Subjects :
- Adolescent
Adult
Bardet-Biedl Syndrome genetics
Bardet-Biedl Syndrome pathology
Case-Control Studies
Female
Gene Expression
Humans
Magnetic Resonance Imaging
Male
Microtubule-Associated Proteins metabolism
Middle Aged
Multigene Family
Olfaction Disorders genetics
Olfaction Disorders pathology
Olfactory Bulb metabolism
Olfactory Bulb pathology
Organ Size genetics
Protein Isoforms genetics
Protein Isoforms metabolism
Smell physiology
Bardet-Biedl Syndrome diagnostic imaging
Microtubule-Associated Proteins genetics
Mutation
Olfaction Disorders diagnostic imaging
Olfactory Bulb diagnostic imaging
Subjects
Details
- Language :
- English
- ISSN :
- 1399-0004
- Volume :
- 90
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Clinical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 26586152
- Full Text :
- https://doi.org/10.1111/cge.12697