Neurorradiologia da síndroma de Kallmann

Melo Freitas, P; Carvalho, S; Ribeiro, F; Marnoto, D; Martins, F

http://hdl.handle.net/10400.4/1090

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Abstract(s)

The present study refers to the magnetic resonance characteristics observed in a group of three patients with clinical and laboratory evidence of Kallmann's Syndrome. This disease, also named olfactogenital dysplasia, affects the normal gonadal and olfactory development and is clinically characterized by the association of hypogonadotrophic hypogonadism and anosmia/hyposmia. The study protocol, which included the attainment of sagittal and coronal T1-weighted MPRAGE (Multiplanar Rapid Acquisition Gradient Echo) volumetric sequences, showed defective rhinocephalon development in all patients, expressed by the aplasia/hypoplasia of the olfactory bulbs/tracts and/or of the olfactory sulci. The changes observed corroborate the predictable imaging of this genetic disorder and have been mainly visible in the coronal slices obtained. The results shown are more clear evidence that magnetic resonance is an effective method to show the abnormalities in the olfactory region that are invariably found in this syndrome.