A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate / 소아과
Korean Journal of Pediatrics
;
: 230-233, 2015.
Article
in English
| WPRIM
| ID: wpr-83628
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Apnea
/
Seizures
/
Sinus Thrombosis, Intracranial
/
Thrombosis
/
Brain Edema
/
Central Nervous System
/
Hyperglycinemia, Nonketotic
/
Diagnosis
/
Diagnosis, Differential
/
Lethargy
Type of study:
Diagnostic study
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Korean Journal of Pediatrics
Year:
2015
Type:
Article
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