Pituitary height and neuroradiological alterations in patients with Prader-Labhart-Willi syndrome.
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.
Iughetti
L
L
Department of Pediatrics, University of Modena and Reggio Emilia, Via del Pozzo, 71-41.100 Modena, Italy. iughetti.lorenzo@unimore.it
Bosio
L
L
Corrias
A
A
Gargantini
L
L
Ragusa
L
L
Livieri
C
C
Predieri
B
B
Bruzzi
P
P
Caselli
G
G
Grugni
G
G
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