Braun J J, Noblet V, Kremer S, Molière S, Dollfus H, Marion V, Goetz N, Muller J, Riehm S
Service ORL-CCF, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Laboratoire ICUBE, UMR CNRS 7357, Strasbourg, France.
Clin Genet. 2016 Jul;90(1):79-83. doi: 10.1111/cge.12697. Epub 2016 Jan 8.
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.
通过磁共振成像（MRI）评估嗅球（OB）体积已被证明与多种不同疾病中的嗅觉功能障碍有关。在巴德-比德尔综合征（BBS）患者中，嗅觉功能障碍常常被忽视，并且很少通过MRI进行客观评估。我们报告了一系列20例患有嗅觉功能障碍的BBS患者。由两名放射科医生（SR和SM）分别独立且盲法地使用3特斯拉MRI成像对OB进行评估，并与12名正常对照受试者进行比较，通过整体视觉评估和OB体积的定量测量。在12例对照病例中，放射科医生（SR）认为所有病例的OB视觉评估均正常，放射科医生（SM）认为10例正常。在20例BBS患者中，SR认为18例的OB视觉评估异常，SM认为所有病例均异常。BBS患者中SR和SM的OB体积评估能够显示BBS与嗅觉功能障碍之间存在显著相关性。这项研究表明，通过MRI成像评估OB体积，如对灰质改变进行的结构MRI扫描，表明BBS患者的嗅觉功能障碍是一种持续且主要的症状，存在于伴有外周和中枢嗅觉结构改变的遗传综合征中。
