Organic acidemias in Korea: Eight years experience of organic acid analysis / 소아과

PURPOSE: We have done this retrospective study to know the relative incidence and clinical manifestations of organic acidopathies in Korea during 8 years(from Jul. 1997 to May 2005). This results of organic acid analysis of 1,787 patients were compared with the results of organic acid analysis that were published three years ago. METHODS: The results of quantitative organic acid analysis of samples of 1788 patients, referred from Jul. 1997 to May 2005, were analyzed retrospectively according to four age group(-2 mon, 3 mon-2 years, 3-12 years) and major clinical manifestations. Quantification of 83 organic acids was done with gas chromatography and mass spectometry. RESULTS: We diagnosed 470 patients with 27 diseases of organic acid metabolism during this study period. Diseases found more than 10 cases are cytosolic 3-ketothiolase deficiency, mitochondrial respiratory chain disorders, PDHC deficiency, mitochondrial 3-ketothiolase deficiency, glutaric aciduria type II, biotinidase deficiency, methylmalonic aciduria and propionic aciduria. Other diseases were diagnosed in less than 10 cases. CONCLUSION: Though the incidence of individual organic acidemia is low, the overall incidence of organic acidemia as a whole seems to be relatively high in Korea. Compared with the results of organic acid analysis that were reported three years ago, we couldn't find a new disease and the difference of the relative incidences of high incident diseases. We were apprehensive of the errors that was owing to the short study period(3 years), but the relative incidences of our study(8 years) were similar to the results of organic acid analysis that were reported three years ago.

Reye syndrome after acute enteritis during the neonatal period / 소아과

PURPOSE: The prevalence of Reye syndrome has decreased since late 1980's. But we report that recently there were concentrative attacks of Reye syndrome after acute enteritis during the neonatal period. METHODS: Clinical symptoms and laboratory results(quantitative organic acid analysis, routine chemistry, arterial blood gas analysis, serum ammonia) of seven patients admitted at the Samsung Medical Center, Sanggye Paik Hospital, Wonju Christian Hospital and Chuncheon Sacred Heart Hospital, referred from Jan. 2005 to Apr. 2005, were analysed retrospectively. The major clinical symptoms were derived from the patients' clinical records sended with urine samples and quantification of organic acids were done with gas chromatography and mass spectrometry. RESULTS: The mean age of seven cases is 18 days and the major preceding symptoms were gastrointestinal symptoms(vomiting, diarrhea, refusal to feeding). The major clinical symptoms were clouded conciousness, repiratory difficulty, vomiting, seizures, and diarrhea. One patient died; that patient's serum ammonia was twenty times higher than normal. CONCLUSION: The seven patients were neonates. Reye syndrome has been known to be closely related with upper respiratory infections as a preceding disease and to internal use of aspirin, but in our study, the major preceding disease of the seven cases was gastrointestinal infection and none of these used aspirin.

Prognostic Factors after the Withdrawal of Antiepileptic Drugs in Benign Epilepsy of Childhood with Centro-temporal Spikes

PURPOSE: This study was undertaken to recognize the relapse rate and risk factors of relapse after discontinuation of antiepileptic drugs in patients with benign epilepsy of childhood with centro-temporal spikes(BECT). METHODS: The subjects were 57 patients with BECT, who visited our hospital from January 1990 to December 2004. They were followed up for more than 24 months after discontinuation of antiepileptic drugs. And they were analysed on the relapse rate and the factors that were presumed to influence the relapse. RESULTS: Seizures were relapsed in 7 of 57 patients(12.2%) after discontinuation of antiepileptic drugs. Relapses were more frequent in patients who took antiepileptic drugs for seizure control more than 12 months(15.0%) than those who didn't(10.8%). Moreover, more relapses occurred to those who were at higher age at onset and who took antiepileptic drugs less than 36 months(100%). Furthermore, those who had abnormalities in EEG experienced more relapses(33.3%) than others. The relapse rate was not significantly different in the aspect of and sex seizure frequency after discontinuation of medication between relapsed and non-relapsed patients. CONCLUSION: It is concluded that we should consider the risk factors of relapse in patients with BECT in order to avoid relapse when discontinuing antiepileptic drugs. Moreover, further studies are needed to clarify the risk factors of relapse.