[Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome].
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.
Santos
Angelina V
AV
Serviços de Neurorradiologia e Neurologia, Hospital Garcia de Orta, Almada.
Saraiva
Paulo F
PF
Breia
Paula N
PN
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