Neuroradiological alterations in patients with Prader-Willi syndrome -

Prader-Labhart-Willi syndrome (PWS) is a genetic disorder caused by an alteration of the long arm of paternal chromosome 15 (by deletion, micro deletion, maternal uniparental disomy, mutation of imprinting centre, chromosomal rearrangement). PWS is characterized by hypotonia, short stature, uncontrollable hyperphagia and obesity, hypogenitalism, temperature instability, and cognitive impairment). Although no specific lesion of the hypothalamus has been demonstrated in PWS necropsy reports, hyperphagia, hypogonadism, and deficit of growth hormone suggest a possible central hypothalamic/pituitary dysfunction in these subjects.In this study we retrospectively analyse the cerebral magnetic resonance images (MRI)of a group of patients with PWS to evaluate the size of the anterior pituitary gland and the presence of neuroradiological alterations.In conclusion we believe that a neuradiological evaluation seems to be indicate in all PWS patients.