Document details

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

Author(s): Santos, Angelina V cv logo 1 ; Saraiva, Paulo F cv logo 2 ; Breia, Paula N cv logo 3

Date: 2003

Origin: Acta Médica Portuguesa


Description
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. 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.
Document Type Article
Language Portuguese
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