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.

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

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.

A Case of Congenital Hepatic Fibrosis with Variceal Bleeding / 대한소아소화기영양학회지

Congenital hepatic fibrosis is an inherited, congenital disorder of the liver characterized by portal hypertension and hepatic fibrosis. We experienced a case of congenital hepatic fibrosis with esophageal varix in a 9-year-old male. He complained hematemesis, hematochezia, dizziness. In laboratory examination, AST/ALT was slightly increased. Esophageal varix was noted by an endoscopic examination. Hepatosplenomegaly and hypoechoic lesion of periportal area were seen by abdominal CT scanning. Histologic finding of liver biopsy showed fibrous tracts containing dilated bile ductules connecting adjacent portal spaces that were widened by mature fibrosis. Endocopic sclerotherpy and ligation was done. We summarized a case with review of literatures.