Wilson's disease is an autosomal recessive disorder marked by disruptions in copper metabolism which leads to accumulation of copper in the liver, brain, cornea, and other tissues. Manifestations of this disease are more likely to be hepatic during early childhood and neurologic in adolescent. In addition, abnormalities that develop during disease progression may result in other manifestations such as hematologic, endocrine, or renal findings. Here we report a 13-year-old girl who presented with hypocalcemic tetany shortly after being diagnosed with Wilson's disease. Despite aggressive calcium, magnesium, and vitamin D replacement therapy, the hypocalcemia and hypomagnesemia did not promptly respond. Mineral levels in the blood took longer than 3 weeks to normalize. We speculate that a parathyroid insufficiency and disrupted vitamin D metabolism caused by copper accumulation and hepatic dysfunction resulted in hypocalcemic tetany.
Adolescent ; Brain ; Calcium ; Copper ; Cornea ; Disease Progression ; Hepatolenticular Degeneration ; Humans ; Hypocalcemia ; Hypoparathyroidism ; Liver ; Magnesium ; Tetany ; Vitamin D ; Vitamin D Deficiency

Acute intermittent porphyria (AIP) is a rare disorder characterized biochemically by the increased excretion of porphyrins and porphyrin precursors, including delta-aminolevulinic acid (ALA) and porphobilinogen (PBG). AIP has variable clinical manifestations, such as acute abdominal pain, vomiting, nausea, constipation, peripheral neuropathy, seizures, tachycardia, and hypertension. A 16-year-old girl presented with recurrent abdominal pain, vomiting, hypertension, seizures, hypercholesterolemia, and red urine. AIP was confirmed by clinical features and increased 24-hour urine ALA and PBG. AIP should be considered in the differential diagnosis of patients who have abdominal pain, hypertension, and seizures when the results of all other tests are normal.
Abdominal Pain ; Adolescent ; Aminolevulinic Acid ; Constipation ; Diagnosis, Differential ; Humans ; Hypercholesterolemia ; Hypertension ; Nausea ; Peripheral Nervous System Diseases ; Porphobilinogen ; Porphyria, Acute Intermittent ; Porphyrins ; Seizures ; Tachycardia ; Vomiting

PURPOSE: Based on previous research findings, it is well-known that the timing of surgery is generally considered the most important prognostic factor for a Kasai portoenterostomy, the primary treatment for biliary atresia. This research aimed to identify the optimal timing of a Kasai portoenterostomy and to verify if the proposed optimal timing corresponds to previous studies. All patients were classified by the timing of surgery, and pre- and post-operative fibrotic changes of the liver were measured with the elasticity value from fibroscans. METHODS: The stiffness scores of the pre- and post-operative fibroscans in 34 patients who were treated by Kasai portoenterostomy from October 2007 to September 2010 in Severance children's hospital were reviewed. RESULTS: The earlier the patients were treated by Kasai portoenterostomy, the lower the fibroscan scores. When the patients were treated prior to the 8th week, the post-operative scores of the fibroscans were significantly better than those patients who were treated after the 8th week, and some even recovered partially. Moreover, when operated before the 8th week, the differences between each pre- and post-operative fibroscan score also showed statistical relevance (p=0.0002). CONCLUSION: The earlier the patient was treated by Kasai portoenterostomy, the less liver fibrosis that developed, the lower the level of post-operative fibrosis, and the less the degree of fibrotic progress before and after the operation. Thus, this research proposal reconfirms once more that the 8th week is the optimal timing for a Kasai portoenterostomy.
Biliary Atresia ; Elasticity ; Fibrosis ; Humans ; Liver ; Liver Cirrhosis ; Research Design

PURPOSE: Recently, the incidence of acute hepatitis A has increased nationwide and is related to a low rate of IgG anti-HAV production. To establish effective measures for preventing hepatitis A virus infection, an epidemiologic study on the seroprevalence of anti-HAV is needed. Thus, we investigated the seroprevalence of IgG anti-HAV in children living in Gwangju and Jeonnam. METHODS: IgG anti-HAV levels were measured in a total of 1,435 patients who visited Chosun University Hospital between January 2009 and December 2009. RESULTS: The overall seropositve rate was 40.8% (586/1,435). The seropositive rates were 41% among children under the age of 1 year, 49.9% for children 1~5 years old, 51.1% among individuals 5~10 years old, 12.9% for individuals 10~15 years old, and 8.2% for subjects over 15 years old. There was no significant difference between genders in any group. The seropositive rates in Gwangju and Jeonnam were 57.3% and 32.9% for children under the age of 1 year, 52.5% and 44.3% for children 1~5 years old, 60.2% and 33.9% among children 5~10 years old, 14.1% and 9.7% for children 10~15 years old, and 10.8% and 4.2% for individuals over 15 years old. CONCLUSION: The results demonstrated the low rates of IgG anti-HAV, particularly among subjects over 10 years old, which suggests the possibility of increasing clinical HAV infection rates among adults in the near future. We should actively prevent the spread of hepatitis A virus. Vaccination is the most effective means of preventing hepatitis A virus transmission among persons at risk for infection. Hepatitis A vaccination is recommended for children who have low IgG anti-HAV seropositive rates.
Adult ; Child ; Epidemiologic Studies ; Hepatitis ; Hepatitis A ; Hepatitis A Antibodies ; Hepatitis A virus ; Humans ; Immunoglobulin G ; Incidence ; Seroepidemiologic Studies ; Vaccination

PURPOSE: We previously reported that concurrent reactivation of latent Epstein-Barr virus (EBV) in children with hepatitis A virus (HAV) infection is common and EBV reactivation with HAV infection adversely affects the clinical features of hepatitis. However, the incidence of concurrent reactivation was not accurate because the detection of EBV reactivation was based on serologic methods. Therefore, we studied the effects of polymerase chain reaction (PCR)-proven EBV reactivation, thus a more precise concurrence, on acute HAV infection in children. METHODS: PCR were conducted in 34 patients, who had enrolled previous study and diagnosed with acute HAV infection between January 2008 and June 2010. Their medical records were reviewed. RESULTS: Among 34 patients with acute HAV infection, 12 patients (35.3%) had EBV reactivation which was proven using serologic and molecular biologic techniques. There were significant differences in the peak levels of AST and ALT between the reactivated and non-reactivated groups (p=0.001 and p<0.001, respectively). The duration of full recovery from hepatitis was more prolonged in the reactivated group (p<0.001). Clinical parameters, such as serum protein (p<0.001) and albumin concentrations (p<0.001), atypical lymphocyte count (p=0.001), prothrombin time-international normalized ratio (PT-INR, p<0.001), and splenomegaly (p<0.001), showed significant differences. The clinical features in the reactivated sub-group >10 years of age revealed more liver dysfunction compared to the non-reactivated sub-group. A comparison with a previous study was performed. CONCLUSION: PCR-proven reactivation of latent EBV in children with HAV infection is common and EBV reactivation with HAV infection adversely affects the clinical features of hepatitis, especially in older children.
Child ; Hepatitis ; Hepatitis A ; Hepatitis A virus ; Herpesvirus 4, Human ; Humans ; Incidence ; Liver Diseases ; Lymphocyte Count ; Medical Records ; Polymerase Chain Reaction ; Prothrombin ; Splenomegaly

PURPOSE: Mecnoium obstruction in very low birth weight infants (VLBWI), which delays enteral feeding and is one of the major causes of bowel obstruction, can be diagnosed and treated with hyperosmolar water-soluble contrast enema. The purpose of this study was to observe the clinical findings of meconium obstruction, the improvement of small bowel obstruction after contrast enema, and the complications related to the enema. METHODS: Hypersolmolar water-soluble contrast enemas were performed in 14 VLBWIs with meconium obstruction. Clinical findings, radiologic findings, feeding intolerance, effectiveness, and complications of enemas were observed. Also, clinical findings related to meconium obstruction were compared with 18 VLBWIs without meconium obstruction. RESULTS: 1) Fourteen VLBWIs with meconium obstruction had significantly lower 5 minutes Apgar scores than 18 VLBWIs without meconium obstruction (p<0.05). Moreover, the day of last meconium passing, and the day of the first trial and full enteral feeding were delayed significantly. 2) A total of 18 enemas were performed in the 14 infants. The contrast medium passed the ileocecal valve and reached the terminal ileus in 12 enemas. Of the 12 enemas, 11 were successful, but 1 infant underwent an ileotomy, even though the contrast medium reached the terminal ileum. 3) Intestinal obstruction was not relieved in three of five infants, in whom the contrast medium failed to pass the ileocecal valve. Obstruction was relieved after repeated enemas in which the contrast medium reached the terminal ileum. 4) No complications associated with water-soluble contrast enemas were observed. CONCLUSION: Hyperosmolar water-soluble contrast enema is considered to be safe and therapeutic for meconium obstruction in VLBWIs.
Contrast Media ; Enema ; Enteral Nutrition ; Humans ; Ileocecal Valve ; Ileum ; Ileus ; Infant ; Infant, Low Birth Weight ; Infant, Newborn ; Infant, Very Low Birth Weight ; Intestinal Obstruction ; Meconium

PURPOSE: The antimicrobial resistance of Helicobacter pylori is one of the critical factors in failure of eradication therapy. The purpose of this study was to evaluate antimicrobial resistance of H. pylori in Korean children. METHODS: Gastric mucosal specimens for H. pylori were obtained from children with dyspepsia who were cared for at Asan Medical Center Children's Hospital in Seoul, Korea between 2003 and 2009. Antimicrobial resistance tests were performed using the disk diffusion method for clarithromycin and amoxicillin and the E-test for metronidazole and tetracycline. Most children with H. pylori infections were treated using triple therapies. RESULTS: Thirty-three children had positive H. pylori cultures, although a resistance test was only performed in 28 patients. Resistant strains were found in 9 children (32.1%). The resistance rates to clarithromycin and metronidazole were 25% and 17.8%, respectively. There was no resistance to amoxicillin or tetracycline. The resistance rates decreased from 44.4% (2003~2006) to 26.3% (2006~2009) during the study period. CONCLUSION: Korean children demonstrated relatively high antimicrobial resistance to H. pylori in this study. However, there was a temporarily decreasing trend during the study period. A larger multi-regional study may be needed to determine the optimal antimicrobial treatment for pediatric patients infected with H. pylori.
Amoxicillin ; Child ; Clarithromycin ; Diffusion ; Dyspepsia ; Helicobacter ; Helicobacter pylori ; Humans ; Korea ; Metronidazole ; Tetracycline

The influence of nutrition during early life on physical growth as well as mental development has been thoroughly discussed in the literature. The physical dimensions of the body are greatly influenced by nutrition, particularly during the period of rapid growth in early childhood. Nutritional status affects every pediatric patient's response toillness. Good nutrition is important for achieving normal growth and development. It is indicated that permanent impairment of the central nervous system may result from dietary restriction of imbalance during certain periods of life. If children under 3 years of age show a good nutritional status, it may be assumed that they are well nourished. Several common diseases of children such as iron deficiency, chronic constipation and atopic dermatitis are known food related diseases. Patients with chronic illness and those at risk of malnutrition should have detailed nutritional assessments done. Components of a complete nutritional assessment include a medical history, nutritional history including dietary intake, physical examination, anthropometrics (weight, length or stature, head circumference, midarm circumference, and triceps skinfold thickness), pubertal staging, skeletal maturity staging, and biochemical tests of nutritional status. The use of age, gender, and disease-specific growth charts is essential in assessing nutritional status and monitoring nutrition interventions. Nutrition assessment and dietary counseling is helpful for the cure of disease, and moreover, the prevention of illness.
Central Nervous System ; Child ; Chronic Disease ; Constipation ; Counseling ; Dermatitis, Atopic ; Growth and Development ; Growth Charts ; Head ; Humans ; Infant ; Iron ; Malnutrition ; Nutrition Assessment ; Nutritional Status ; Physical Examination

PURPOSE: Glycogen storage disease type Ia (GSD Ia) is an autosomal recessive disorder of glycogen metabolism caused by glucose-6-phosphatase (G6Pase) deficiency. The clinical manifestations of G6Pase deficiency include growth retardation, hepatomegaly, hypoglycemia, lactic acidemia, hyperlipidemia and hyperuricemia. Many mutations of this gene have been found worldwide in various ethnic groups, establishing the molecular basis of GSD Ia. To elucidate a spectrum of the G6Pase gene mutations in Korean, we analyzed mutations in Korean patients with GSD Ia. METHODS: Both alleles of 9 unrelated GSD 1a patients were studied by PCR and direct DNA sequencing methods. In all patients, GSD 1a was diagnosed by the enzyme assay for the liver biopsy specimen. RESULTS: In Korean, the most prevalent mutation was g727t substitution in exon 5, which has been reported to cause abnormal mRNA splicing: Sixteen out of 18 alleles were found to have this mutation. In addition, we identified one novel mutation, a c611g, converting a proline to an alanine at codon 178. CONCLUSION: Our findings suggest that a screening for the g727t mutation by noninvasive molecular method can detect most cases of GSD Ia in Korean patients.
Alanine ; Alleles ; Biopsy ; Codon ; Enzyme Assays ; Ethnic Groups ; Exons ; Glucose-6-Phosphatase ; Glycogen Storage Disease* ; Glycogen* ; Hepatomegaly ; Humans ; Hyperlipidemias ; Hyperuricemia ; Hypoglycemia ; Liver ; Mass Screening ; Metabolism ; Polymerase Chain Reaction ; Proline ; RNA, Messenger ; Sequence Analysis, DNA

PURPOSE: Mycoplasma pneumoniae infection is relatively common in childhood. Its extrapulmonary manifestations have been reported so much, but hepatitis associated with it has not been studied yet until now in Korea. METHODS: We performed the prospective study of 19 cases that had AST and ALT>50 IU/L respectively without evidence of hepatitis A, B, C, cytomegalovirus, and Ebstein-Barr virus infections amongst 143 patients with M. pneumoniae pneumonia who were admitted to the Department of Pediatrics, Seoul Red Cross Hospital from Jan. 1999 to Dec. 2000. RESULTS: 1) Hepatitis occurred in 13.3% of Mycoplasma pneumoniae infection, especially in fall and winter times. The average age was 4.86 years and male to female ratio was 2.2 : 1. 2) Vomiting was developed in 21.1%, diarrhea in 36.8%, and hepatomegaly in 21.1%, respectively. And leukocytosis was noted in 21.1%, eosinophilia in 15.4%, anemia in 10.5%, and thrombocytosis in 5.3%, respectively. The average level of C-reactive protein was 6.34+/-4.82 mg/dl. 3) There was no hyperbilirubinemia, but hypoalbuminemia was detected in 42.1%. The average serum levels of AST and ALT were 214.05+/-183.22 IU/L and 284.16+/-286.84 IU/L, respectively. 4) Chest radiology showed lobar or lobular consolidation in 73.7%, bronchial infiltration in 26.3%, and pleural effusion in 31.6%. 5) The average length of hospitalization was 7.9 days, and the average length of normalization of serum transaminases was 8.8 days. All patients recovered within 2 weeks completely. CONCLUSION: The prognosis of M. pneumoniae hepatitis is good. However, its incidence is not so low that liver function should be considerately checked in case of M. pneumoniae infection.
Anemia ; C-Reactive Protein ; Child ; Cytomegalovirus ; Diarrhea ; Eosinophilia ; Female ; Hepatitis A ; Hepatitis* ; Hepatomegaly ; Hospitalization ; Humans ; Hyperbilirubinemia ; Hypoalbuminemia ; Incidence ; Korea ; Leukocytosis ; Liver ; Male ; Mycoplasma pneumoniae* ; Mycoplasma* ; Pediatrics ; Pleural Effusion ; Pneumonia ; Pneumonia, Mycoplasma* ; Prognosis ; Prospective Studies ; Red Cross ; Seoul ; Thorax ; Thrombocytosis ; Transaminases ; Vomiting