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KMID : 1130320150580060230
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Korean Journal of Pediatrics
2015 Volume.58 No. 6 p.230 ~ p.233
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A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
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Yurttutan Sadık
Oncel Mehmet Yekta
Yurttutan Nursel
Degirmencioglu Halil
Uras Nurdan
Dilmen Ugur
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Abstract
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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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KEYWORD
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Newborn, Nonketotic hyperglycinemia, Cranial venous sinus thrombosis
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