Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt

• Main Authors: Carlos Pérez-García (Author), Yolanda Ruíz Martín (Author), Alejandra Aguado del Hoyo (Author), Carlos Marín Rodríguez (Author), Minia Campos Domínguez (Author)
• Format: Book
• Published: MDPI AG, 2017-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.
• Notes: 2036-749X; 2036-7503; 10.4081/pr.2017.7211
• Keywords: Adams-Oliver Syndrome; Periventricular calcifications; Portosystemic-shunt; Pediatric Neuroradiology; Medicine; R; Pediatrics; RJ1-570
• Source: Pediatric Reports, Vol 9, Iss 2 (2017)

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.