A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
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چکیده
منابع مشابه
A novel association between cerebral sinovenous thrombosis and nonketotic hyperglycinemia in a neonate
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 progre...
متن کاملNonketotic hyperglycinemia in a neonate.
Hyperglycinemia represents a group of disorders characterized by elevated concentrations of glycine in body fluids. Two types exist, the ketotic and non ketotic. In the ketotic type, the most striking feature is ketoacidosis, which begins early in life and in which hyperglycinemia is secondarily associated with organic acidemias. Nonketotic hyperglycinemia (NKH) is a disorder of glycine metabol...
متن کاملcerebral sinovenous thrombosis (csvt) in a neonate with different manifestations
cerebral sinovenous thrombosis (csvt) is increasingly diagnosed in neonates. despite many studies which have addressed diagnosis and management of pediatric csvt, diagnosis of cvsd in neonates is difficult. a female neonate born by natural vaginal delivery was diagnosed with csvt after initiation of seizure. the seizure was stabilized and after performing diagnostic tests, the diagnosis of csvt...
متن کاملCerebral Sinovenous Thrombosis
Cerebral sinovenous thrombosis (CSVT) is a rare but serious cerebrovascular disorder affecting children from the newborn period through childhood and adolescence. The incidence is estimated at 0.6/100,000/year, with 30-50% occurring in newborns. Causes are diverse and are highly age dependent. Acute systemic illness is the dominant risk factor among newborns. In childhood CSVT, acute infections...
متن کاملNonketotic hyperglycinemia: Pathophysiological studies
Recent study on nonketotic hyperglycinemia, an inborn error of glycine metabolism, is reviewed from clinical, metabolic, molecular, and neuropathological points of view. This disorder is caused by an inherited deficiency of the mitochondrial glycine cleavage system (GCS), which causes accumulation of glycine in such body fluids as plasma, cerebrospinal fluid, and urine. There are four disease t...
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ژورنال
عنوان ژورنال: Korean Journal of Pediatrics
سال: 2015
ISSN: 1738-1061,2092-7258
DOI: 10.3345/kjp.2015.58.6.230