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A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate

Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, char...

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Autores principales: Yurttutan, Sadık, Oncel, Mehmet Yekta, Yurttutan, Nursel, Degirmencioglu, Halil, Uras, Nurdan, Dilmen, Ugur
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Pediatric Society 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510357/
https://www.ncbi.nlm.nih.gov/pubmed/26213552
http://dx.doi.org/10.3345/kjp.2015.58.6.230
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author Yurttutan, Sadık
Oncel, Mehmet Yekta
Yurttutan, Nursel
Degirmencioglu, Halil
Uras, Nurdan
Dilmen, Ugur
author_facet Yurttutan, Sadık
Oncel, Mehmet Yekta
Yurttutan, Nursel
Degirmencioglu, Halil
Uras, Nurdan
Dilmen, Ugur
author_sort Yurttutan, Sadık
collection PubMed
description Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia.
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spelling pubmed-45103572015-07-24 A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate Yurttutan, Sadık Oncel, Mehmet Yekta Yurttutan, Nursel Degirmencioglu, Halil Uras, Nurdan Dilmen, Ugur Korean J Pediatr Case Report Lethargy in newborns usually indicates central nervous system dysfunction, and many conditions such as cerebrovascular events, infections, and metabolic diseases should be considered in the differential diagnosis. Nonketotic hyperglycinemia is an autosomal recessive error of glycine metabolism, characterized by myoclonic jerks, hypotonia, hiccups, apnea, and progressive lethargy that may progress to encephalopathy or even death. Cerebral sinovenous thrombosis is a rare condition with various clinical presentations such as seizures, cerebral edema, lethargy, and encephalopathy. Here, we report the case of a newborn infant who presented with progressive lethargy. An initial diagnosis of cerebral venous sinus thrombosis was followed by confirmation of the presence of nonketotic hyperglycinemia. The Korean Pediatric Society 2015-06 2015-06-22 /pmc/articles/PMC4510357/ /pubmed/26213552 http://dx.doi.org/10.3345/kjp.2015.58.6.230 Text en Copyright © 2015 by The Korean Pediatric Society http://creativecommons.org/licenses/by-nc/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Yurttutan, Sadık
Oncel, Mehmet Yekta
Yurttutan, Nursel
Degirmencioglu, Halil
Uras, Nurdan
Dilmen, Ugur
A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title_full A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title_fullStr A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title_full_unstemmed A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title_short A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
title_sort novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4510357/
https://www.ncbi.nlm.nih.gov/pubmed/26213552
http://dx.doi.org/10.3345/kjp.2015.58.6.230
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