A importância da neuroimagem no diagnóstico da Síndrome de Boucher-Neuhauser.

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.