title: [Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome].
abstract: The authors report a case of a young patient with the clinic triad of cerebellar ataxia, retinal dystrophy and hypogonadotropic hypogonadism (Boucher Neuhauser Syndrome), of probable autosomal recessive inheritance, in which the brain MRI has a major role to the diagnosis.
authors.affiliation: Serviços de Neurorradiologia e Neurologia, Hospital Garcia de Orta, Almada.
authors.forename: Angelina V
authors.initials: AV
authors.lastname: Santos
authors.forename: Paulo F
authors.initials: PF
authors.lastname: Saraiva
authors.forename: Paula N
authors.initials: PN
authors.lastname: Breia
mesh_terms: D000328:Adult; D002524:Cerebellar Ataxia / Q000473:pathology*; D006801:Humans; D007006:Hypogonadism / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D008297:Male; D012160:Retina / Q000473:pathology*; D013577:Syndrome