J Korean Child Neurol Soc.  2005 Nov;13(2):252-256.

A Case of Citrullinemia Presenting with Status Epilepticus

• Jang JY
• You SJ
• Yoo HW
• Ko TS

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.

Keyword

Status epilepticus; Citrullinemia; Hyperammoninemia

MeSH Terms

Adolescent
Ammonia
Argininosuccinate Synthase
Brain Death
Citrullinemia*
Diagnosis
Humans
Hyperammonemia
Male
Renal Dialysis
Seizures
Status Epilepticus*
Urea
Vomiting
Ammonia
Argininosuccinate Synthase
Urea