Three Cases of Factor XI Deficiency / 대한소아혈액종양학회지

Factor XI deficiency is a very rare autosomal recessive coagulation factor deficiency, comprising 1/million in ethnic groups other than Ashkenazi Jews. The clinical manifestations are extremely variable, and generally milder than those of hemophilia A and B. We describe herewith 3 children with factor XI deficiency, who were found to have prolonged aPTT in routine laboratory studies, or in evaluation of intermittent epistaxis.

Endocrinopathy in Hemochromatosis Patients Multi-Transfused for Aplastic Anemia / 대한소아혈액종양학회지

PURPOSE: Chronic blood transfusions result in excessive iron deposition leading to eventual tissue damage and impaired function of organs, such as the liver, spleen, pancreas, skin, thyroid, and heart. We evaluated the body iron status and endocrinopathy in repeatedly transfused patients with aplastic anemia (AA). METHODS: Fourteen patients with AA who were transfused with more than 10 Units of packed RBC since 1996 were evaluated. We evaluated the correlation of amount of blood transfused with status of iron stores (determined by serum iron, TIBC, ferritin and transferrin saturation) and organ damage. RESULTS: Patients received a median of 61 units (range 11~168 units) of PRC. Twelve patients (85.7%) had elevated serum ferritin levels, and 11 (78.6%) had elevated transferrin saturation. Serum ferritin (P<0.01; r=0.868), and transferrin saturation (P<0.05; r=0.569) were significantly correlated with the amount of PRC transfused, respectively. Five patients had clinically significant iron overload despite the use of deferoxamine. Organ damage caused by transfusion iron overload were skin pigmentation (N=3), hepatic (N=1) and endocrinologic abnormalities. Diabetes (N=3), hypothyroidism (N=3), and hyogonadotropic hypogonadism (N=1) were observed. No patient developed clinically significant arthropathy or cardiac disease. CONCLUSION: AA patients who received chronic blood transfusions develop iron overload which may lead to endocrinopathy. Iron status and organ dysfunction should be monitored and effective measures to prevent iron overload should be applied in patients who need chronic transfusions.

A Study on the Prediction of Neurodevelopmental Outcome by Cranial Ultrasound in Preterm and Low Birth Weight Infants

PURPOSE: Recent progress in neonatal medicine increased the survival of preterm low birth weight infants. However, neurodevelopmental sequelae are ever increasing. We carried out this study to determine whether serial cranial ultrasonographic findings could predict neurodevelopmental outcome. METHODS: Four hundred and forty-one preterm low birth weight infants, who were admitted to the Neonatal Intensive Care Unit of Chonnam University Hospital from Jan. 1996 to Dec. 1998, were enrolled in this study. Infants were allocated to one of four groups, according to their ultrasonographic findings. Cases were included in group I when they showed normal ultrasound scans or their periventricular echogenicity was equal to choroid plexus(n=232); in group II, subependymal hemorrhage, intraventricular hemorrhage without ventricular dilatation(n=146); in Group III, intraventricular hemorrhage with ventricular dilatation or perivemtricular echogenicity-3 (n=48); in Group IV, bilateral cystic Periventricular leukomalacia(PVL)(n=15). In these four groups, correlation among the incidence of cerebral palsy and neurodevelopmental abnormalities, cranial ultrasonographic findings, and other perinatal parameters were evaluated by ANOVA test, chi- square test, and logistic regression analysis. RESULTS: The incidence of cerebral palsy was remarkably high in group IV(86.6%) and half of them showed a combination of other developmental abnormalities. The significant predictors of cerebral palsy were cystic PVL and duration of oxygen therapy. CONCLUSION: Cranial ultrasonographic findings could predict the development of cerebral palsy and other neurodevelopmental outcome in preterm low birth weight infants.