Adams-Oliver Syndrome with Unusual Central Nervous System Findings and an Extrahepatic Portosystemic Shunt

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...

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Bibliographic Details
Published in:Pediatric reports 2017-06, Vol.9 (2), p.7211-7211
Main Authors: Pérez-García, Carlos, Martín, Yolanda Ruíz, Del Hoyo, Alejandra Aguado, Rodríguez, Carlos Marín, Domínguez, Minia Campos
Format: Article
Language:English
Subjects:
Abnormalities
Adams-Oliver Syndrome
Brachydactyly
Case Report
Case reports
Central nervous system
Corpus callosum
Fetuses
Hemorrhage
Lesions
Nervous system
Pathogenesis
Pediatric Neuroradiology
Pediatrics
Perfusion
Periventricular calcifications
Portosystemic-shunt
Scalp
Skull
Substantia alba
Thromboembolism
Thrombosis
Trauma
Ventricle
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Summary: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.
ISSN:2036-749X
2036-7503
2036-7503
DOI:10.4081/pr.2017.7211