Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome.

Angelina V Santos, Paulo F Saraiva, Paula N Breia


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.

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