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Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet–Biedl syndrome
Author(s) -
Braun J.J.,
Noblet V.,
Kremer S.,
Molière S.,
Dollfus H.,
Marion V.,
Goetz N.,
Muller J.,
Riehm S.
Publication year - 2016
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12697
Subject(s) - olfactory bulb , magnetic resonance imaging , olfactory system , medicine , pathology , bardet–biedl syndrome , neuroscience , radiology , psychology , biology , central nervous system , phenotype , biochemistry , gene
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.

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