ECE2016 Guided Posters Neuroendocrinology (10 abstracts)
Abnormal hypothalamus and related brain regions in Prader–Willi syndrome evaluated in vivo by diffusion tensor imaging (DTI)
Assumpta Caixàs 1 , Raquel Fenoll 2 , Jesús Pujol 2 , Marta Bueno 3 , Susanna Esteba 4 , Laura Blanco-Hinojo 2 , Dídac Macià 2 , Ramon Novell 4 , Ramon Coronas 5 , Olga Giménez-Palop 1 , Mercedes Rigla 1 & Joan Deus 6
1Endocrinology and Nutrition Department, Corporació Sanitària Parc Taulí, Institut de Recerca I3PT (UAB), Sabadell (Barcelona), Spain; 2MRI Research Unit, Hospital del Mar. CIBERSAM G21, Barcelona, Spain; 3Endocrinology and Nutrition Department, Hospital Arnau de Vilanova, Lleida, Spain; 4Mental Health and Intelectual Discapacity Specialized Department, Parc Hospitalari Martí i Julià, Salt (Girona), Spain; 5Mental Health Department, Corporació Sanitària Parc Taulí, Institut Recerca I3PT (UAB), Sabadell (Barcelona), Spain; 6Department of Clinical and Health Psychology, UAB, Bellaterra (Barcelona), Spain.
Introduction: Prader–Willi syndrome is a genetic disorder characterized by hypotonia, intellectual disabilities, obesity and behavioral disturbance. Patients present with several neuroendocrinological abnormalities, such as growth hormone deficiency, hypogonadotropic hypogonadism, and hyperphagia, as the result of possible involvement of the hypothalamo-hypophyseal system. Diffusion tensor imaging (DTI) is a noninvasive MRI technique capable of providing quantitative indices of brain structure integration. To our knowledge, there is only one study in PWS patients using DTI and it was not focused in the hypothalamo-hypopshyseal region.
Materials and methods: Twenty patients (11 males, 9 females, aged 28.3±7.4 years) with PWS and twenty age- and gender-matched controls (11 males, 9 females, aged 28.1±7.0 years) were recruited. MRI data were acquired from all participants using a 1.5-Tesla system. Diffusion-weighted scans were obtained using spin-echo single-shot echo-planar sequences of 25 directions with a B-factor of 1000 s/mm2. Images were preprocessed and fractional anisotropy (FA) maps were calculated using Functional MRI of the Brain (FMRIB) Software Library 5.0 (FSL).
Results: Based on a voxel-wise approach, we found a significant reduction in FA values in a number of brain regions in PWS compared with controls. Relevantly, FA was significantly reduced in the entire hypothalamus (H) region and in nearby structures including the lenticular nucleus (LN) (bilateral), amygdala (A), the sub-genu part of the anterior cingulate cortex (CC) and the cranial-ventral aspect of the striatum (S). R LN 79.9 ml, (x,y,z) 20, 4, -9, T5.00; L LN -23, 3, -12 T4.65; H 4, -11, -3, T5.25; A -12, -8, -21, T5.61; AnteriorCCsub-genu, -5,17,-12, T4.80; L cranial-ventral S -16, 22, -6, T4.17 and R cranial-ventral S 16, 21,-2, T4.31.
Conclusion: DTI results confirm the presence of an abnormal hypothalamus that could contribute to explain endocrinological abnormalities and hyperphagia pathophysiology in these patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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