TY - JOUR AU - Santos, Angelina V AU - Saraiva, Paulo F AU - Breia, Paula N PY - 2003/05/31 Y2 - 2024/03/28 TI - Significance of neuroimaging in the diagnosis of Boucher-Neuhauser syndrome. JF - Acta Médica Portuguesa JA - Acta Med Port VL - 16 IS - 3 SE - DO - 10.20344/amp.1164 UR - https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/1164 SP - 193-195 AB - 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. ER -