Korean J Pediatr.  2015 Jun;58(6):230-233. 10.3345/kjp.2015.58.6.230.

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

• Yurttutan
• Oncel MY
• Yurttutan
• Degirmencioglu H
• Uras N
• Dilmen U

• KMID: 1795120
• DOI: http://doi.org/10.3345/kjp.2015.58.6.230

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.

Keyword

Newborn; Nonketotic hyperglycinemia; Cranial venous sinus thrombosis

MeSH Terms

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*
Glycine