title: Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome.
abstract: Prader-Willi syndrome (PWS), a genetic disorder due to an alteration in the paternally derived long arm of chromosome 15, is characterized by a complex clinical picture (short stature, obesity, hypogonadism) that seems to be referable to as a central hypothalamic/pituitary dysfunction. To determine whether there is any diminution in the anterior pituitary gland or other neuroradiological alterations, we retrospectively analysed 91 patients with PWS (42 females, 49 males; age range: 0.7-16.8 years) by cerebral magnetic resonance imaging (MRI). Of these 91 patients, MRI analysis showed a reduction in pituitary height in 45 patients (49.4%), a complete absence of the posterior pituitary bright spot in six patients (6.6%) and other neuroradiological alterations in ten patients (11%). Altogether, neuroradiological alterations were present in 61 of the 91 (67%) patients. Our results indicate that neuroradiological alterations are more frequent in PWS patients than has been reported to date.
authors.affiliation: Department of Pediatrics, University of Modena and Reggio Emilia, Via del Pozzo, 71-41.100 Modena, Italy. iughetti.lorenzo@unimore.it
authors.forename: L
authors.initials: L
authors.lastname: Iughetti
authors.forename: L
authors.initials: L
authors.lastname: Bosio
authors.forename: A
authors.initials: A
authors.lastname: Corrias
authors.forename: L
authors.initials: L
authors.lastname: Gargantini
authors.forename: L
authors.initials: L
authors.lastname: Ragusa
authors.forename: C
authors.initials: C
authors.lastname: Livieri
authors.forename: B
authors.initials: B
authors.lastname: Predieri
authors.forename: P
authors.initials: P
authors.lastname: Bruzzi
authors.forename: G
authors.initials: G
authors.lastname: Caselli
authors.forename: G
authors.initials: G
authors.lastname: Grugni
mesh_terms: D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D005260:Female; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009485:Neuroradiography; D010903:Pituitary Gland, Anterior / Q000000981:diagnostic imaging / Q000473:pathology*; D011218:Prader-Willi Syndrome / Q000235:genetics / Q000473:pathology*; D012189:Retrospective Studies