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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| Format: | Article |
| Language: | English |
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MDPI AG
2017-06-01
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| Series: | Pediatric Reports |
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| Online Access: | http://www.pagepress.org/journals/index.php/pr/article/view/7211 |
| _version_ | 1818426377202827264 |
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| author | Carlos Pérez-García Yolanda Ruíz Martín Alejandra Aguado del Hoyo Carlos Marín Rodríguez Minia Campos Domínguez |
| author_facet | Carlos Pérez-García Yolanda Ruíz Martín Alejandra Aguado del Hoyo Carlos Marín Rodríguez Minia Campos Domínguez |
| author_sort | Carlos Pérez-García |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T14:28:52Z |
| format | Article |
| id | doaj.art-8d6ce0d2baac4c619f1138f232dca348 |
| institution | Directory Open Access Journal |
| issn | 2036-749X 2036-7503 |
| language | English |
| last_indexed | 2024-12-14T14:28:52Z |
| publishDate | 2017-06-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Pediatric Reports |
| spelling | doaj.art-8d6ce0d2baac4c619f1138f232dca3482022-12-21T22:57:51ZengMDPI AGPediatric Reports2036-749X2036-75032017-06-019210.4081/pr.2017.72113755Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shuntCarlos Pérez-García0Yolanda Ruíz Martín1Alejandra Aguado del Hoyo2Carlos Marín Rodríguez3Minia Campos Domínguez4Department of Radiology, General University Hospital Gregorio Marañón, MadridDepartment of Pediatric Radiology, Mother and Child Hospital Gregorio Marañón, MadridDepartment of Pediatric Radiology, Mother and Child Hospital Gregorio Marañón, MadridDepartment of Pediatric Radiology, Mother and Child Hospital Gregorio Marañón, MadridDepartment of Pediatric Dermatology, Mother and Child Hospital Gregorio Marañón, MadridWe 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.http://www.pagepress.org/journals/index.php/pr/article/view/7211Adams-Oliver SyndromePeriventricular calcificationsPortosystemic-shuntPediatric Neuroradiology |
| spellingShingle | Carlos Pérez-García Yolanda Ruíz Martín Alejandra Aguado del Hoyo Carlos Marín Rodríguez Minia Campos Domínguez Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt Pediatric Reports Adams-Oliver Syndrome Periventricular calcifications Portosystemic-shunt Pediatric Neuroradiology |
| title | Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| title_full | Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| title_fullStr | Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| title_full_unstemmed | Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| title_short | Adams-Oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| title_sort | adams oliver syndrome with unusual central nervous system findings and an extrahepatic portosystemic shunt |
| topic | Adams-Oliver Syndrome Periventricular calcifications Portosystemic-shunt Pediatric Neuroradiology |
| url | http://www.pagepress.org/journals/index.php/pr/article/view/7211 |
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