A Case of Citrullinemia Presenting with Status Epilepticus / 대한소아신경학회지
Journal of the Korean Child Neurology Society
;
(4): 252-256, 2005.
Article
in Korean
| WPRIM
| ID: wpr-96610
ABSTRACT
Status epilepticus and seizure in childhood have various etiologies. Metabolic disorders may be an important cause of seizure and status epilepticus in childhood. Citrullinemia is a form of urea cycle defects and usually presents as an overwhelming neonatal illness. But in mild forms of citrullinemia, patients shows a gradual onset with frequent vomiting and developmental delay. We experienced a case of a 14-year-old boy presenting status epilepticus and hyperammonemia. The diagnosis of citrullinemia was made based on the elevated serum citrulline(about 20 times of the normal), and blood ammonia(over 500 micromol/L) as well as mutation of argininosuccinate synthetase gene. Although hemodialysis was done to remove elevated ammonia, he was expired due to hyperammonemic encephalopathy and brain death. So we suggest that metabolic disorders should be considered as one of the etiologies of status epilepticus in childhood.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Argininosuccinate Synthase
/
Seizures
/
Status Epilepticus
/
Urea
/
Vomiting
/
Brain Death
/
Renal Dialysis
/
Citrullinemia
/
Hyperammonemia
/
Diagnosis
Type of study:
Diagnostic study
Limits:
Adolescent
/
Humans
/
Male
Language:
Korean
Journal:
Journal of the Korean Child Neurology Society
Year:
2005
Type:
Article
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