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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Published in:Korean journal of pediatrics 2015, Vol.58 (6), p.230-233
Main Authors: Yurttutan, Sadik, Oncel, Mehmet Yekta, Yurttutan, Nursel, Degirmencioglu, Halil, Uras, Nurdan, Dilmen, Ugur
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container_end_page 233
container_issue 6
container_start_page 230
container_title Korean journal of pediatrics
container_volume 58
creator Yurttutan, Sadik
Oncel, Mehmet Yekta
Yurttutan, Nursel
Degirmencioglu, Halil
Uras, Nurdan
Dilmen, Ugur
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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title A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
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