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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Pediatric Society
2015
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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. |
format | Online Article Text |
id | pubmed-4510357 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2015 |
publisher | The Korean Pediatric Society |
record_format | MEDLINE/PubMed |
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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