Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review
A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound...
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| Format: | Article |
| Language: | English |
| Published: |
Hygeia Press di Corridori Marinella
2013-03-01
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| Series: | Journal of Pediatric and Neonatal Individualized Medicine |
| Subjects: | |
| Online Access: | https://www.jpnim.com/index.php/jpnim/article/view/49 |
| _version_ | 1818862829088800768 |
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| author | Ilias Chatziioannidis George Mitsiakos Paraskevi Karagianni Ioannis Tsitouridis Maria Kyriakidou Nikolaos Nikolaidis |
| author_facet | Ilias Chatziioannidis George Mitsiakos Paraskevi Karagianni Ioannis Tsitouridis Maria Kyriakidou Nikolaos Nikolaidis |
| author_sort | Ilias Chatziioannidis |
| collection | DOAJ |
| description | A full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound showed a temporal bilateral aspecific alteration of the parenchimal echogenicity, whereas a magnetic resonance imaging/venography revealed an extensive cerebral sinus thrombus. Extensive diagnostic studies for prothrombotic disorders showed negative results, even if there was an alterated haemostatic screening. Persistency of hypotonia led us to investigate Prader-Willi syndrome among others. Methylation analysis confirmed the diagnosis. This is the third report associating cerebral venous thrombosis and Prader-Willi syndrome, confirming sinus thrombosis as a possible presentation of this syndrome. A review of the literature is provided in order to disclose possible similarities and differences in Prader-Willi syndrome patients with cerebral sinovenus thrombosis. |
| first_indexed | 2024-12-19T10:06:05Z |
| format | Article |
| id | doaj.art-26bf5d3de9e247df936358b3e3224dcb |
| institution | Directory Open Access Journal |
| issn | 2281-0692 |
| language | English |
| last_indexed | 2024-12-19T10:06:05Z |
| publishDate | 2013-03-01 |
| publisher | Hygeia Press di Corridori Marinella |
| record_format | Article |
| series | Journal of Pediatric and Neonatal Individualized Medicine |
| spelling | doaj.art-26bf5d3de9e247df936358b3e3224dcb2022-12-21T20:26:30ZengHygeia Press di Corridori MarinellaJournal of Pediatric and Neonatal Individualized Medicine2281-06922013-03-0121858910.7363/02011337Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature reviewIlias Chatziioannidis0George Mitsiakos1Paraskevi Karagianni2Ioannis Tsitouridis3Maria Kyriakidou4Nikolaos Nikolaidis5B’ Neonatal Intensive Care Unit Aristotle University of Thessaloniki, G.P.N. Papageorgiou Hospital, ThessalonikiB’ Neonatal Intensive Care Unit Aristotle University of Thessaloniki, G.P.N. Papageorgiou Hospital, ThessalonikiB’ Neonatal Intensive Care Unit Aristotle University of Thessaloniki, G.P.N. Papageorgiou Hospital, ThessalonikiRadiology Department, G.P.N. Papageorgiou Hospital, ThessalonikiDepartment of Physical Therapy, G.P.N. Papageorgiou Hospital, ThessalonikiB’ Neonatal Intensive Care Unit Aristotle University of Thessaloniki, G.P.N. Papageorgiou Hospital, ThessalonikiA full-term male neonate from a first pregnancy of two clinical non-consanguineous parents was born at 40 weeks of gestation with cesarean section. He was admitted at 2 hours of life to our III level Neonatal Intensive Care Unit due to generalized hypotonia, presenting at birth. Cerebral ultrasound showed a temporal bilateral aspecific alteration of the parenchimal echogenicity, whereas a magnetic resonance imaging/venography revealed an extensive cerebral sinus thrombus. Extensive diagnostic studies for prothrombotic disorders showed negative results, even if there was an alterated haemostatic screening. Persistency of hypotonia led us to investigate Prader-Willi syndrome among others. Methylation analysis confirmed the diagnosis. This is the third report associating cerebral venous thrombosis and Prader-Willi syndrome, confirming sinus thrombosis as a possible presentation of this syndrome. A review of the literature is provided in order to disclose possible similarities and differences in Prader-Willi syndrome patients with cerebral sinovenus thrombosis.https://www.jpnim.com/index.php/jpnim/article/view/49cerebral sinus thrombosisprader-willi syndromehypotonia |
| spellingShingle | Ilias Chatziioannidis George Mitsiakos Paraskevi Karagianni Ioannis Tsitouridis Maria Kyriakidou Nikolaos Nikolaidis Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review Journal of Pediatric and Neonatal Individualized Medicine cerebral sinus thrombosis prader-willi syndrome hypotonia |
| title | Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review |
| title_full | Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review |
| title_fullStr | Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review |
| title_full_unstemmed | Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review |
| title_short | Cerebral sinus thrombosis in an infant with Prader-Willi syndrome and literature review |
| title_sort | cerebral sinus thrombosis in an infant with prader willi syndrome and literature review |
| topic | cerebral sinus thrombosis prader-willi syndrome hypotonia |
| url | https://www.jpnim.com/index.php/jpnim/article/view/49 |
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