간질중첩증으로 발현한 시트룰린혈증 1례

A Case of Citrullinemia Presenting with Status Epilepticus

저자들은 14세 남아에서 고암모니아혈중과 이로인한 뇌증과 간질중첩증으로 발현한 시트룰린혈증을 경험하였기에 문헌고찰과 함께 보고하는 바이다.

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.