Santos Angelina V, Saraiva Paulo F, Breia Paula N
Serviços de Neurorradiologia e Neurologia, Hospital Garcia de Orta, Almada.
Acta Med Port. 2003 May-Jun;16(3):193-5.
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.
作者报告了一例年轻患者，具有小脑性共济失调、视网膜营养不良和低促性腺激素性腺功能减退三联征（布歇-诺伊豪泽综合征），可能为常染色体隐性遗传，其中脑部磁共振成像对诊断起主要作用。
