RESUMEN
PURPOSE: This study was performed to analyse urine gamma-hydroxybutyric acid(GHB) in children with seizures, and to investigate the pattern of seizures and neurologic abnormalities in children related with gamma-hydroxybutyric aciduria. METHODS: We reviewed retrospectively medical records of children who admitted to our hospital with seizures between August 1. 2001 and February 28. 2003. We compared urine GHB levels with controls, and also analyzed the clinical features of patients who showed increased urine GHB. RESULTS: The mean urine GHB was 1.7+/-1.6 mmol/mol cr in febrile seizures, 1.8+/-2.5 mmol/mol cr in non-febrile seizures, and 1.8+/-2.0 mmol/mol cr in controls. Compared with control group, there was no significant difference in urine GHB levels(P>0.05). In 8 of 64 children with seizures, GHB levels increased above 2 standard deviation of normal controls. The types of seizure in children who showed increased urine GHB were generalized tonic clonic seizure in 3 patients, complex partial seizure in 2 patients, febrile seizure in 2 patients, and benign Rolandic epilepsy in 1 patient. 3 patients showed neurologic abnormalities, 4 patients showed electroencephalographic abnormalities, and 2 patients of 6 patients who performed brain imaging study showed brain imaging abnormalities. CONCLUSION: Children with gamma-hydroxybutyric aciduria should be suspected succinic semialdehyde dehydrogenase deficiency as a cause of underlying disease.