@article {Manara1700, author = {R. Manara and A. Salvalaggio and A. Favaro and V. Palumbo and V. Citton and A. Elefante and A. Brunetti and F. Di Salle and G. Bonanni and A.A. Sinisi and for the Kallmann Syndrome Neuroradiological Study Group}, title = {Brain Changes in Kallmann Syndrome}, volume = {35}, number = {9}, pages = {1700--1706}, year = {2014}, doi = {10.3174/ajnr.A3946}, publisher = {American Journal of Neuroradiology}, abstract = {BACKGROUND AND PURPOSE: Kallmann syndrome is a rare inherited disorder due to defective intrauterine migration of olfactory axons and gonadotropin-releasing hormone neurons, leading to rhinencephalon hypoplasia and hypogonadotropic hypogonadism. Concomitant brain developmental abnormalities have been described. Our aim was to investigate Kallmann syndrome{\textendash}related brain changes with conventional and novel quantitative MR imaging analyses. MATERIALS AND METHODS: Forty-five male patients with Kallmann syndrome (mean age, 30.7 years; range, 9{\textendash}55 years) and 23 age-matched male controls underwent brain MR imaging. The MR imaging study protocol included 3D-T1, FLAIR, and diffusion tensor imaging (32 noncollinear gradient-encoding directions; b-value = 800 s/mm2). Voxel-based morphometry, sulcation, curvature, and cortical thickness analyses and tract-based spatial statistics were performed by using Statistical Parametric Mapping 8, FreeSurfer, and the fMRI of the Brain Software Library. RESULTS: Corpus callosum partial agenesis, multiple sclerosis{\textendash}like white matter abnormalities, and acoustic schwannoma were found in 1 patient each. The total amount of gray and white matter volume and tract-based spatial statistics measures (fractional anisotropy and mean, radial, and axial diffusivity) did not differ between patients with Kallmann syndrome and controls. By specific analyses, patients with Kallmann syndrome presented with symmetric clusters of gray matter volume increase and decrease and white matter volume decrease close to the olfactory sulci; reduced sulcal depth of the olfactory sulci and deeper medial orbital-frontal sulci; lesser curvature of the olfactory sulcus and sharper curvature close to the medial orbital-frontal sulcus; and increased cortical thickness within the olfactory sulcus. CONCLUSIONS: This large MR imaging study on male patients with Kallmann syndrome featured significant morphologic and structural brain changes, likely driven by olfactory bulb hypo-/aplasia, selectively involving the basal forebrain cortex. KSKallmann syndromeFAfractional anisotropyMNIMontreal Neurological InstituteTBSStract-based spatial statisticsVBMvoxel-based morphometry}, issn = {0195-6108}, URL = {https://www.ajnr.org/content/35/9/1700}, eprint = {https://www.ajnr.org/content/35/9/1700.full.pdf}, journal = {American Journal of Neuroradiology} }