A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate.
10.3345/kjp.2015.58.6.230
- Author:
Sadik YURTTUTAN
1
;
Mehmet Yekta ONCEL
;
Nursel YURTTUTAN
;
Halil DEGIRMENCIOGLU
;
Nurdan URAS
;
Ugur DILMEN
Author Information
1. Neonatal Intensive Care Unit, Zekai Tahir Burak Maternity Teaching Hospital, Ankara, Turkey. sdkyurttutan@gmail.com
- Publication Type:Case Report
- Keywords:
Newborn;
Nonketotic hyperglycinemia;
Cranial venous sinus thrombosis
- MeSH:
Apnea;
Brain Edema;
Central Nervous System;
Diagnosis;
Diagnosis, Differential;
Glycine;
Hiccup;
Humans;
Hyperglycinemia, Nonketotic*;
Infant, Newborn*;
Lethargy;
Metabolic Diseases;
Metabolism;
Muscle Hypotonia;
Myoclonus;
Seizures;
Sinus Thrombosis, Intracranial;
Thrombosis*
- From:Korean Journal of Pediatrics
2015;58(6):230-233
- CountryRepublic of Korea
- Language:English
-
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.
