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http://dx.doi.org/10.3345/kjp.2015.58.6.230

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

Yurttutan, Sadik (Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital)
Oncel, Mehmet Yekta (Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital)
Yurttutan, Nursel (Elmadag State Hospital)
Degirmencioglu, Halil (Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital)
Uras, Nurdan (Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital)
Dilmen, Ugur (Department of Pediatrics, Yildirim Beyazit University Hospital)
Publication Information
Clinical and Experimental Pediatrics / v.58, no.6, 2015 , pp. 230-233 More about this Journal
Abstract
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.
Keywords
Newborn; Nonketotic hyperglycinemia; Cranial venous sinus thrombosis;
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