%0 Journal Article
%T Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt
%A Alejandra Aguado del Hoyo
%A Carlos Mar¨ªn Rodr¨ªguez
%A Carlos P¨¦rez-Garc¨ªa
%A Minia Campos Dom¨ªnguez
%A Yolanda Ru¨ªz Mart¨ªn
%J -
%D 2016
%R https://doi.org/10.4081/pr.2017.7211
%X We report a case of a premature neonate girl with scalp and skull defects and brachydactyly of the feet consistent with an Adams-Oliver syndrome (AOS). The patient had central nervous system abnormalities, such as periventricular calcifications, hypoplastic corpus callosum, and bilateral hemispheric corticosubcortical hemorrhagic lesions. A muscular ventricular septal defect and a portosystemic shunt were diagnosed. To our knowledge, this is the first report of congenital supratentorial grey-white matter junction lesions without dural sinus thrombosis in association with AOS. Some of these lesions may be secondary to birth trauma (given the skull defect) whilst others have a watershed location, perhaps as further evidence of vascular disruption and decreased perfusion during critical periods of fetal brain development as the previously proposed pathogenesis of this syndrome.
%U https://www.pagepress.org/journals/index.php/pr/article/view/7211