A two-month-old baby had acholic stool, neonatal hyperbilirubinemia and congenital heart disease. Atresia of the hepatic duct was confirmed by open cholangiography, which showed a non-opacified intrahepatic bile duct. Liver biopsy and the Kasai operation were performed. Because the liver biopsy pathology revealed a paucity of intrahepatic bile ducts, the patient was diagnosed with the Alagille syndrome. We report the case of an infant diagnosed with the Alagille syndrome with atresia of the hepatic duct.
Alagille Syndrome ; Bile Ducts, Intrahepatic ; Biopsy ; Cholangiography ; Heart Diseases ; Hepatic Duct, Common ; Humans ; Hyperbilirubinemia, Neonatal ; Infant ; Liver

Kabuki syndrome is characterized by peculiar facial features, developmental delay, and mental retardation. Congenital hepatic abnormalities in Kabuki syndrome patients have been sporadically reported in the literature and consist of extrahepatic biliary atresia, neonatal sclerosing cholangitis, and transient neonatal cholestasis. We report here a case of congenital hepatic fibrosis in a patient with Kabuki syndrome. To our knowledge, only one case of congenital hepatic fibrosis has been reported in the setting of Kabuki syndrome.
Abnormalities, Multiple ; Biliary Atresia ; Cholangitis, Sclerosing ; Cholestasis ; Face ; Fibrosis ; Hematologic Diseases ; Humans ; Intellectual Disability ; Vestibular Diseases

Extrahepatic portosystemic shunts, known as Abernethy malformations, were first reported by John Abernethy in 1793. They are classified into two types: Type I refers to a congenital absence of the portal vein and Type II refers to a shunt involving a side-to-side anastomosis with reduced portal blood flow into the liver parenchyma. This malformation is so rare that less than 100 cases have been reported in the medical literature. We report the case of a 13-month-old boy who had a congenital extrahepatic portocaval shunt with a hypoplastic portal vein. This case was complicated with an atrial septal defect and a large hyperplastic nodule in the liver. The patient was diagnosed with a Type II Abernethy malformation. We planned on surgical occlusion of the extrahepatic portocaval shunt. However, six months later, the patient had a sudden onset of a fever of unknown origin and developed hepatic encephalopathy. Although he underwent a liver transplantation, he died of acute hepatic failure.
Fever of Unknown Origin ; Focal Nodular Hyperplasia ; Heart Septal Defects, Atrial ; Hepatic Encephalopathy ; Humans ; Infant ; Liver ; Liver Failure, Acute ; Liver Transplantation ; Portal Vein ; Portasystemic Shunt, Surgical

PURPOSE: A new health policy, referred to as the National Health Screening Program for Infants and Children, was launched in November 2007 by the Ministry of Health and Welfare and National Health Insurance Corporation in Korea. We have developed a nutrition-counseling program that was incorporated into this project. METHODS: We reviewed the nutritional guidelines published by The Korean Pediatric Society and internationally well-known screening programs such as Bright Future in the United States. We also reviewed the recent Korean national surveys on nutritional issues, including the Korea National Health and Nutrition Examination Survey (KNHANES) and the 2005 National Survey of Physical Body and Blood Pressure in Children and Adolescents. The development of questions, pamphlets, computer programs, and manuals for doctors was carried out after several meetings of researchers and governmental officers. RESULTS: We summarized the key nutritional issues according to age, including breastfeeding in infants, healthier complementary feeding, and prevention of iron deficiency anemia, establishment of healthier diets, as well as dietary prevention of overweight children with an emphasis on physical exercise. We have constructed a new Korean nutrition questionnaire and an anticipatory guidance program based on the primary care schedule of visits at 4, 9, 18, 30, and 60 months of age. Five to eight questions were asked at each visit and age-matched pamphlets for parents and guidelines for doctors were provided. CONCLUSION: We developed a nutrition-counseling program based on recent scientific evidence for Korean infants and children. Further research on this national program for screening the nutritional problems in detail and setting the therapeutic approaches may help identify areas of success as well as those that need further attention.
Adolescent ; Anemia, Iron-Deficiency ; Appointments and Schedules ; Blood Pressure ; Breast Feeding ; Child ; Counseling ; Diet ; Exercise ; Health Policy ; Humans ; Infant ; Infant Nutritional Physiological Phenomena ; Korea ; Mass Screening ; National Health Programs ; Nutrition Surveys ; Obesity ; Overweight ; Pamphlets ; Parents ; Primary Health Care ; Surveys and Questionnaires ; Software ; United States

PURPOSE: The aim of this study was to determine the clinical significance of food-specific IgE antibody tests in detecting triggering antigens in food protein-induced proctocolitis (FPIPC). METHODS: Between February 2006 and May 2007, data from 16 consecutive FPIPC patients that underwent MAST and Uni-CAP tests on initial visits, were reviewed. The endoscopic criterion used for establishing a diagnosis of FPIPC was an increase in the number of eosinophils in the lamina propria (> or =60 per 10 high power fields). Offending foods were suspected clinically based on elimination and challenge testing to mother or patient diets with the following five highly allergenic foods: dairy products, eggs, nuts and soybean, fish and shellfish, and wheat and buckwheat. We compared the results of initial MAST or Uni-CAP tests with clinically suspected offending foods. RESULTS: For the 16 FPIPC patients, MAST tests showed positive results in 2 patients (12.5%), and Uni-CAP tests showed positive results in 3 patients (18.8%). Through clinical elimination and challenge, the 33 offending foods were identified: 7 fish and shellfish (21.2%), 6 eggs (18.2%), 6 wheat and buckwheat (18.2%), 4 dairy products (12.1%), 3 soybean (9.1%), 3 pork (9.1%), 2 nuts (6.1%), 1 beef (3.0%), and 1 mushroom (3.0%). Clinically suspected offending foods and MAST and Uni-CAP test results were found to be correlated in 1 patient (6.7%) each. CONCLUSION: Food specific IgE antibody tests are inappropriate for predicting offending foods in FPIPC. Clinical food elimination and challenge testing provide useful means of detecting offending foods.
Agaricales ; Dairy Products ; Diet ; Eggs ; Eosinophils ; Fagopyrum ; Humans ; Immunoglobulin E ; Mothers ; Mucous Membrane ; Nuts ; Ovum ; Proctocolitis ; Shellfish ; Soybeans ; Triticum

PURPOSE: The aim of this study is to report the efficacy of infliximab, a monoclonal antibody directed against tumor necrosis factor alpha which is used for both treatment of refractory pediatric Crohn disease (CD) and induction of remission. METHODS: Among pediatric patients who were diagnosed with CD at Samsung Medical Center between March 2001 and August 2007, a total of 16 patients were given infliximab to treat conventional therapy- resistant refractory CD and severe active CD for induction of remission. Patients needing maintenance therapy were treated with an infliximab infusion every 8 weeks, and fistulizing CD patients occasionally received the infusion upon the condition that a fistula developed. The efficacy of treatment was assessed by comparing the Pediatric Crohn Disease Activity Index (PCDAI), Hct, ESR, CRP, and serum albumin levels using paired t-test. RESULTS: The male/female ratio was 13:3, and the median age was 13 years (range, 21 months~15 years). The patients included 7 cases of therapy-resistant refractory CD, 7 cases of severe active CD, and 2 cases of fistulizing CD. Mean PCDAI before infliximab therapy was 34.19+/-14.96, and mean follow-up PCDAI within 2 to 4 weeks after the last infusion was significantly lower, at 6.88+/-10.31 (p= 0.000). Hematological markers such as ESR (p=0.000), serum albumin (p=0.016), and CRP (p=0.009) also improved significantly after infusion. Remission was achieved in 2 of 4 patients refractory to conventional therapy. Among 3 steroid-dependent patients, 2 were able to discontinue steroid therapy, and dose reduction was possible in 1 patient. Remission after top-down therapy without prior use of other immunomodulators was achieved in 6 weeks in all 7 of the patients who had severe CD. Nine of ten refractory fistulizing CD patients also showed improvement after infliximab therapy. CONCLUSION: Infliximab was effective in pediatric refractory CD for induction of remission and maintenance therapy, as well as in severe CD for top-down induction therapy. Furthermore, infliximab has contributed to steroid cessation and dose reduction. Long-term follow-up evaluation is needed to determine safety and efficacy of infliximab in the future.
Antibodies, Monoclonal ; Child ; Crohn Disease ; Fistula ; Follow-Up Studies ; Humans ; Immunologic Factors ; Remission Induction ; Serum Albumin ; Tumor Necrosis Factor-alpha ; Infliximab

PURPOSE: The aim of this survey was to analyze the choice of sedative drugs and their side effects during pediatric endoscopic sedation in Korea. We also evaluated doctors, caretakers and patient satisfaction with the procedures. METHODS: Between June 2006 and July 2006, a 16-item survey regarding current sedation practices, during one month, was mailed to 28 hospitals in Korea. The results of the survey responses were then analyzed. RESULTS: Endoscopy performed under conscious sedation was reported in 89.0% of the responders and endoscopy under general anesthesia in 0.9% of 465 endoscopic procedures. Endoscopy under conscious sedation was performed in 89.1% for upper gastrointestinal endoscopy (GFS) and 88.1% for lower GFS. Midazolam was used for conscious sedation during the endoscopy in 84.5% of cases and propofol was used in two cases (0.5%). In addition, a bezodiazepine/opioid combination was used iin 84.6% (44 cases) for lower GFS. Patients were monitored with pulse oxymetry, EKG (91.4%) as well as automatic BP (5.1%). Transient hypoxia was the only side effect noted and was treated with supplemental oxygen (4.6%). Flumazenil was used in 2.71% of cases. The choice of sedation was made by the endoscopist (84%). The satisfaction rate for endoscopists was 68%, and for the patients and caretakers was 84% (as reported by the endoscopists). CONCLUSION: Midazolam was used only for the upper GFS and benzodiazepine/opioid combination was used for the lower GFS in Korea. The rate of satisfaction was relatively high and there were no significant side effects noted during the endoscopy under conscious sedation.
Anesthesia, General ; Anoxia ; Conscious Sedation ; Electrocardiography ; Endoscopy ; Endoscopy, Gastrointestinal ; Flumazenil ; Gastroenterology ; Humans ; Korea ; Midazolam ; Oxygen ; Patient Satisfaction ; Postal Service ; Propofol

PURPOSE: Chronic pulmonary disease may be caused by aspiration of gastric contents secondary to gastroesophageal reflux. At present, there is no gold standard for documenting pulmonary aspiration. The purpose of this study was to investigate the usefulness of radionuclide scintigraphy in the detection of gastroesophageal reflux and pulmonary aspiration. METHODS: Thirty-five patients with suspected aspiration pneumonia, and five normal control subjects, were included in the study. All subjects underwent gastroesophageal reflux scintigraphy after the ingestion of a (99m)Tc-tin colloid mixture. Dynamic images to detect gastroesophageal reflux were obtained for 1 hour. Additional static images of the chest, to detect lung aspiration, were obtained at 6 and 24 hours after oral ingestion of the tin colloid. In addition to visual analysis, pulmonary aspiration was quantitated by counting the number of pixels labeled with radioactive isotope in the region of interest (ROI) of both lung fields. Aspiration index (AI) was obtained by subtracting the pixel counts of the background from the pixel counts of the ROI. RESULTS: Among 35 patients with suspected aspiration pneumonia, 23 proved to have gastroesophageal reflux by scintigraphy. One patient showed definite pulmonary accumulation of activity by visual analysis of the 6-hour image. Thirty of 35 (85.7%) patients showed higher AI beyond the upper limit of AI in the healthy controls. When we compared the reflux group with the non-reflux group, there was a significantly higher AI at 6 hours in the reflux group (p<0.05). CONCLUSION: The results suggest that radionuclide scintigraphy is useful in detecting small pulmonary aspiration in patients with suspected aspiration pneumonia secondary to reflux.
Colloids ; Eating ; Gastroesophageal Reflux ; Humans ; Lung ; Lung Diseases ; Pneumonia, Aspiration ; Thorax ; Tin

Comprehensive understanding of the natural course of chronic hepatitis B virus (HBV) infection is mandatory for the management and treatment of chronic hepatitis B, of which the natural course consists of immune tolerance, immune clearance, inactive carrier state, and reactivation phase. Evidence based medical approach is essential for the management of HBV carriers and treatment of active hepatitis to decrease risks of liver cirrhosis and hepatocellular carcinoma as well as to increase survival. In addition, education of patients or their parents are required to achieve a better therapeutic outcome and to prevent unconfirmed alternative medicine and anecdotal approaches.
Carcinoma, Hepatocellular ; Carrier State ; Complementary Therapies ; Hepatitis ; Hepatitis B virus ; Hepatitis B, Chronic ; Hepatitis, Chronic ; Humans ; Immune Tolerance ; Internet ; Korea ; Liver Cirrhosis ; Parents ; Patient Education as Topic ; Viruses

Galactosemia is a rare autosomal recessive disorder caused by the deficiency of galactose-1-phosphate uridyltransferase (GALT) enzyme activity. Classic galactosemia (G/G) is due to severe GALT deficiency in the presence of a GALT gene mutation, whereas Duarte variant (D/D) has 50% of normal GALT activity and benign clinical course. The D2 allele of Duarte variant is linked to a promoter deletion 5' to the translation start site (-119 to -116 delGTCA) in addition to N314D. So, Duarte variant/classical galactosemia (D/G) compound heterozygotes have relatively mild clinical manifestation than classical galactosemia and can be differentiated from classical galactosemia or Duarte variant by mutational analysis. We report a case of D/G galactosemia compound heterozygote proven by the reduction of GALT enzyme activity in erythrocytes and mutation analysis of GALT gene, which revealed N314D polymorphism and -119 to -116 delGTCA.
Alleles ; Erythrocytes ; Galactosemias* ; Heterozygote* ; UTP-Hexose-1-Phosphate Uridylyltransferase*