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Journal of the Korean Child Neurology Society 2005;13(2):252-256.
Published online November 30, 2005.
A Case of Citrullinemia Presenting with Status Epilepticus.
Joo Young Jang, Su Jeong You, Han Wook Yoo, Tae Sung Ko
Department of Pediatrics, Asan Medical Center, College of Medicine, Ulsan University, Seoul, Korea. tsko@amc.seoul.kr
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.
Key Words: Status epilepticus, Citrullinemia, Hyperammoninemia


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