Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

BACKGROUND@#Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma. The aim of this study was to analyze the risk factors for hepatic adenoma and its malignant change, and the hepatocellular carcinoma-free survival rate in patients with GSD who developed adenoma.@*METHODS@#A total of 72 patients with GSD who were enrolled from March 1982 to September 2013 at Seoul National University Children's Hospital were retrospectively analyzed, and the median follow-up period was 19.2 years.@*RESULTS@#Thirty-two patients (44.4%) developed hepatic adenoma at an age range of 7.9–26.3 years (median, 14.3 years). Among the 32 patients with hepatic adenoma, 4 patients (12.5%) developed hepatocellular carcinoma on an average interval of 6.7 years between the diagnosis of adenoma and the development of hepatocellular carcinoma. GSD type I and portacaval shunt operation were found to be the risk factors for hepatic adenoma development. The hepatocellular carcinoma-free survival rate at 10 years from adenoma development was 82%.@*CONCLUSION@#The present study found that portacaval shunt operation increases the risk of development of hepatic adenoma in GSD patients, especially in GSD type I. The hepatic adenoma in GSD patients has a potential of malignant transformation, which should be keep in mind in follow-up process of the disease.

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

BACKGROUND@#Glycogen storage disease (GSD) is an inherited disorder leading to abnormal glucose metabolism and glycogen accumulation, and is associated with various complications including hepatic adenoma and hepatocellular carcinoma. The aim of this study was to analyze the risk factors for hepatic adenoma and its malignant change, and the hepatocellular carcinoma-free survival rate in patients with GSD who developed adenoma.@*METHODS@#A total of 72 patients with GSD who were enrolled from March 1982 to September 2013 at Seoul National University Children's Hospital were retrospectively analyzed, and the median follow-up period was 19.2 years.@*RESULTS@#Thirty-two patients (44.4%) developed hepatic adenoma at an age range of 7.9–26.3 years (median, 14.3 years). Among the 32 patients with hepatic adenoma, 4 patients (12.5%) developed hepatocellular carcinoma on an average interval of 6.7 years between the diagnosis of adenoma and the development of hepatocellular carcinoma. GSD type I and portacaval shunt operation were found to be the risk factors for hepatic adenoma development. The hepatocellular carcinoma-free survival rate at 10 years from adenoma development was 82%.@*CONCLUSION@#The present study found that portacaval shunt operation increases the risk of development of hepatic adenoma in GSD patients, especially in GSD type I. The hepatic adenoma in GSD patients has a potential of malignant transformation, which should be keep in mind in follow-up process of the disease.

Development of Hepatocellular Carcinoma in Patients with Glycogen Storage Disease: a Single Center Retrospective Study

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

BACKGROUND: Mutations in ATP7B cause Wilson disease (WD). However, direct DNA full sequencing cannot detect all mutations in patients with WD. Multiplex ligation-dependent probe amplification (MLPA) analysis is reportedly useful in increasing the diagnostic yield in other genetic disorders with large deletions or insertions. The aim of this study was to evaluate whether the detection rate of ATP7B mutations can be increased by using MLPA. METHODS: We enrolled 114 children with WD from 104 unrelated families based on biochemical tests and direct DNA full sequencing. The patients with one or zero mutant allele were investigated using MLPA. We analyzed phenotypic correlations. RESULTS: Total allele frequency by full sequencing was 87.5%. Full sequencing revealed two mutant alleles in 80 of 104 unrelated children. One mutant allele was detected in 22 children, and no mutations were found in two children. Novel mutations including small deletions with frameshift mutations were identified by DNA sequencing. MLPA revealed no gross deletion or duplication in 24 children with one or zero mutant alleles. The number of detected mutations was not associated with hepatic manifestation, age of onset, Kayser-Fleischer ring, ceruloplasmin, and urinary Cu concentrations. CONCLUSION: MLPA showed a limited role to increase the mutation detection rate in children who do not receive a definite genetic diagnosis of WD through DNA full sequencing. This finding suggests that large deletions or duplications might be extremely rare in WD. Further development is needed to improve the genetic diagnosis of WD.

Diencephalic syndrome: a frequently neglected cause of failure to thrive in infants / 소아과

PURPOSE: Diencephalic syndrome is an uncommon cause of failure to thrive in early childhood that is associated with central nervous system neoplasms in the hypothalamic-optic chiasmatic region. It is characterized by complex signs and symptoms related to hypothalamic dysfunction; such nonspecific clinical features may delay diagnosis of the brain tumor. In this study, we analyzed a series of cases in order to define characteristic features of diencephalic syndrome. METHODS: We performed a retrospective study of 8 patients with diencephalic syndrome (age, 5-38 months). All cases had presented to Seoul National University Children's Hospital between 1995 and 2013, with the chief complaint of poor weight gain. RESULTS: Diencephalic syndrome with central nervous system (CNS) neoplasm was identified in 8 patients. The mean age at which symptoms were noted was 18+/-10.5 months, and diagnosis after symptom onset was made at the mean age of 11+/-9.7 months. The mean z score was -3.15+/-1.14 for weight, -0.12+/-1.05 for height, 1.01+/-1.58 for head circumference, and -1.76+/-1.97 for weight-for-height. Clinical features included failure to thrive (n=8), hydrocephalus (n=5), recurrent vomiting (n=5), strabismus (n=2), developmental delay (n=2), hyperactivity (n=1), nystagmus (n=1), and diarrhea (n=1). On follow-up evaluation, 3 patients showed improvement and remained in stable remission, 2 patients were still receiving chemotherapy, and 3 patients were discharged for palliative care. CONCLUSION: Diencephalic syndrome is a rare cause of failure to thrive, and diagnosis is frequently delayed. Thus, it is important to consider the possibility of a CNS neoplasm as a cause of failure to thrive and to ensure early diagnosis.

Molecular Analysis of the UGT1A1 Gene in Korean Patients with Crigler-Najjar Syndrome Type II / 대한소아소화기영양학회지

PURPOSE: Crigler-Najjar syndrome type II (CN-2) is characterized by moderate non-hemolytic unconjugated hyperbilirubinemia as a result of severe deficiency of bilirubin uridine diphosphate-glucuronosyltransferase (UGT1A1). The study investigated the mutation spectrum of UGT1A1 gene in Korean children with CN-2. METHODS: Five Korean CN-2 patients from five unrelated families and 50 healthy controls were enrolled. All five exons and flanking introns of the UGT1A1 gene were amplified by polymerase chain reaction (PCR) and the PCR products were directly sequenced. RESULTS: All children initially presented with neonatal jaundice and had persistent indirect hyperbilirubinemia. Homozygous p.Y486D was identified in all five patients. Three patients had an associated homozygous p.G71R and two a heterozygous p.G71R. The allele frequency of p.Y486D and p.G71R in healthy controls was 0 and 0.16, respectively. No significant difference in mean serum bilirubin levels was found between homozygous carriers of p.G71R and heterozygous carriers. CONCLUSION: The combination of homozygous p.Y486D and homozygous or heterozygous p.G71R is identified. The p.Y486D and p.G71R can be screened for the mutation analysis of UGT1A1 in Korean CN-2 patients.

Long Term Outcomes of Pediatric Liver Transplantation According to Age

Liver transplantation (LT) has been the key therapy for end stage liver diseases. However, LT in infancy is still understudied. From 1992 to 2010, 152 children had undergone LT in Seoul National University Hospital. Operations were performed on 43 patients aged less than 12 months (Group A) and 109 patients aged over 12 months (Group B). The mean age of the recipients was 7 months in Group A and 74 months in Group B. The patients' survival rates and post-LT complications were analyzed. The mean Pediatric End-stage Liver Disease score was higher in Group A (21.8) than in Group B (13.4) (P = 0.049). Fulminant hepatitis was less common in Group A (4.8%) than in Group B (13.8%) (P = 0.021). The post-transplant lymphoproliferative disorder and portal vein complication were more common in Group A (14.0%, 18.6%) than in Group B (1.8%, 3.7%) (P = 0.005). However, the 1, 5, and 10 yr patient survival rates were 93%, 93%, and 93%, in Group A and 92%, 90%, and 88% in Group B (P = 0.212). The survival outcome of pediatric LT is excellent and similar regardless of age. LTs in infancy are not riskier than those of children.

Long-term Outcomes of Endoscopic Variceal Ligation to Prevent Rebleeding in Children with Esophageal Varices

After an episode of acute bleeding from esophageal varices, patients are at a high risk for recurrent bleeding and death. However, there are few reports regarding the long-term results of secondary prophylaxis using endoscopic variceal ligation (EVL) against variceal rebleeding in pediatrics. Thirty-seven, who were followed for over 3 yr post-eradication, were included in the study. The mean duration of follow up after esophageal variceal eradication was 6.4+/-1.9 yr. The mean time required to achieve the eradication of varices was 3.25 months. The mean number of sessions and O-bands needed to eradicate varices was 1.9+/-1.2 and 3.8+/-1.5, respectively. During the period before the first EVL treatment, 145 episodes of bleedings developed in 37 children. Over the 3 yr of follow-up after variceal eradication, only 4 episodes of rebleeding developed in 4 of 37 patients. The four rebleeding episodes consisted of an esophageal variceal bleed, a gastric variceal bleed, a duodenal ulcer bleed, and a bleed caused by hemorrhagic gastritis. There was no mortality during long-term follow up after variceal eradication. During long-term follow up after esophageal variceal eradication using solely EVL in children with esophageal variceal bleeds, rebleeding episodes and recurrence of esophageal varices were rare. EVL is a safe and highly effective method for the long-term prophylaxis of variceal rebleeding in children with portal hypertension.

Monitoring of Clostridium difficile Colonization in Preterm Infants in Neonatal Intensive Care Units / 대한소아소화기영양학회지

PURPOSE: To examine the prevalence of Clostridium difficile (C. difficile) colonization (CDC) and potential neonatal determinants of CDC in hospitalized preterm infants. METHODS: Fecal samples were serially collected within 72 h after birth and at 1, 2, and 4-6 weeks of age from preterm infants in the neonatal intensive care units (NICUs) of two different university hospitals. Total bacterial DNA was extracted from each fecal sample from 49 infants, and polymerase chain reaction (PCR) was performed with primers for the 16S gene of C. difficile and the toxin A and toxin B genes. The correlation between the results of C. difficile PCR assays and the clinical characteristics of the infants was analyzed. RESULTS: The prevalence rates of CDC were 34.7, 37.2, 41.3, and 53.1% within 72 h after birth and at 1, 2, and 4-6 weeks of age, respectively. The toxin positivity rate was significantly higher in the infants with persistent CDC than in those with transient CDC (8/12 [66.7%] vs. 6/25 [24.5%] (p=0.001). Among the various neonatal factors, only the feeding method during the first week after birth was significantly associated with persistent CDC. Exclusive breast-milk feeding (EBMF) significantly decreased the risk of persistent CDC compared to formula or mixed feeding (adjusted odds ratio: 0.133, 95% confidence interval: 0.02-0.898, p=0.038). CONCLUSION: The prevalence of CDC increased with the duration of hospitalization in preterm infants in the NICU. EBMF during the first week after birth in hospitalized preterm infants may protect against persistent CDC.

Role of Tumor Necrosis Factor-alpha Promoter Polymorphism and Insulin Resistance in the Development of Non-alcoholic Fatty Liver Disease in Obese Children / 대한소아소화기영양학회지

PURPOSE: Tumor necrosis factor-alpha (TNF-alpha) polymorphism has been suggested to play an important role in the pathogenesis of non-alcoholic fatty liver disease (NAFLD) in obese adults, and known to be a mediator of insulin resistance. In this study, we evaluated the role of TNF-alpha promoter polymorphisms and insulin resistance in the development of NAFLD in obese children. METHODS: A total of 111 obese children (M:F=74:37; mean age, 11.1+/-2.0 yrs) were included. The children were divided into 3 groups: controls (group I, n=61), children with simple steatosis (group II, n=17), and children with non-alcoholic steatohepatitis (group III, n=33). Serum TNF-alpha levels, homeostasis model assessment of insulin resistance (HOMA-IR), and TNF-alpha -308 and -238 polymorphisms were evaluated. RESULTS: There were no differences in TNF-alpha polymorphism at the -308 or the -238 loci between group I and group II + III (p=0.134 and p=0.133). The medians of HOMA-IR were significantly different between group I and group II + III (p=0.001), with significant difference between group II and group III (p=0.007). No difference was observed in the HOMA-IR among the genotypes at the -308 locus (p=0.061) or the -238 locus (p=0.207) in obese children. CONCLUSION: TNF-alpha promoter polymorphisms at the -308 and -238 loci were not significantly associated with the development of NAFLD in children; nevertheless, insulin resistance remains a likely essential factor in the pathogenesis of NAFLD in obese children, especially in the progression to NASH.

Diagnosis of Wilson Disease in Young Children: Molecular Genetic Testing and a Paradigm Shift from the Laboratory Diagnosis / 대한소아소화기영양학회지

Wilson disease (WD) is an autosomal recessive disorder of copper metabolism that results in accumulation of copper primarily in the liver, brain and cornea. Mutations in the WD gene, ATP7B, cause failure of copper excretion from hepatocyte into bile and a defective synthesis of ceruloplasmin. More than 500 mutations are now recognized, scattered throughout the ATP7B gene. Since WD has protean clinical presentations, awareness of WD in clinical practice is important for the early diagnosis and prevention of accumulated copper toxicity. Molecular genetic testing is playing an increasingly important role in the diagnosis of WD in uncertain cases and family screening. Siblings should be screened for WD once an index case has been diagnosed. Discrimination of heterozygotes from asymptomatic patients is essential to avoid inappropriate lifelong therapy for heterozygotes. Genetic testing, either by haplotype analysis or by mutation analysis, is the only definite solution for differentiating heterozygote carriers from affected asymptomatic patients. Routine genetic testing, because of the multitude of documented mutations, has been thought to be impractical until recently. However, genetic testing is now being more actively applied to the diagnosis of WD, particularly in young children in whom conventional biochemical diagnosis has much limitation and only genetic testing is able to confirm WD. Because advancement of modern biochemical technology now allows more rapid, easier, and less expensive mutation detection, direct DNA sequencing could be actively considered as the primary mode of diagnostic investigation rather than a supplementary test to the conventional biochemical tests. This review will focus on the recent advancement of molecular genetics and genetic diagnosis of WD in very young children on the basis of research data of the Seoul National University Children's Hospital and recent literature.

Pediatric Inflammatory Bowel Disease (IBD): Phenotypic, Genetic and Therapeutic Differences between Early-Onset and Adult-Onset IBD / 대한소아소화기영양학회지

Inflammatory bowel disease (IBD) develops during childhood or adolescence in approximately 25% of patients with IBD. Recent studies on pediatric IBD have revealed that early-onset IBD has distinct phenotype differences compared to adult onset IBD. Pediatric early-onset IBD differs in many aspects including disease type, location of the lesions, disease behavior, gender preponderance and genetically attributable risks. This review examines the currently published data on the clinical, epidemiological and genetic differences between early-onset and adult-onset IBD. And finally, therapeutic considerations in the management of pediatric-onset IBD are also discussed.

Acute Intermittent Porphyria Presented with Recurrent Abdominal Pain and Hypertension / 대한소아소화기영양학회지

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.

Mutations in Hepatitis B Virus Precore, Core Promoter, and "a" Determinant in Children with Chronic Hepatitis B Virus Infection / 대한소아소화기영양학회지

PURPOSE: The aim of this study was to determine the prevalence, types of variants, and clinical significance of mutations in precore, core promoter, and "a" determinant mutations in children with chronic hepatitis B virus infection. METHODS: Thirty-one patients with chronic hepatitis B virus infection who visited Seoul National University Children's Hospital in Korea between 2004 and 2005 were enrolled in this study. Serum HBV DNA was amplified by polymerase chain reaction (PCR) and the precore/core promoter and "a" determinant sequences were determined. RESULTS: Precore mutations were found in 11 of 27 patients (40.7%), and appeared more frequently in the HBeAg-negative group (p<0.05) compared to the HBeAg-positive group. G1896A was detected most frequently (81.8%). BCP mutations were found in 15 of 27 patients (55.6%) and the TA mutation (A1762T/G1764A) was the most common (86.7%). Mutations in the "a" determinant region were detected in 8 of 28 patients (28.6%), and amino acid changes were detected in 6 of 28 patients (21.4%). Of these mutations, substitutions at amino acid position 126 were found most frequently. CONCLUSION: In children with chronic hepatitis B virus infection, the most common mutations were G1896A in the precore region and TA mutation(A1762T/G1764A) in the core promoter region. Substitutions at amino acid position 126 was the most common mutation in the "a" determinant. Precore mutants were found to be significantly higher in HBeAg-negative patients. The high prevalence of mutations in the "a" determinant and low frequency of G145R were characteristic features. These mutations were not significantly associated with other clinical features except for high aminotransferase concentration in the core promoter variant group.

A Case of Magnet Ingestion in a Child with Autism: Gastro-Colonoscopic Removal without Surgical Complication / 대한소아소화기영양학회지

With the increasing use of magnets in toys, magnet ingestion is becoming a serious problem in children. Two or more magnets may attract across the gastrointestinal tract leading to pressure necrosis, perforation, fistula, volvulus or obstruction. We report a case of a 12-year-old boy with autism who presented with vomiting during seven days due to ingestion of 14 magnetic rods. Under general anesthesia, 5 of 14 magnets were removed from the second portion of the duodenum using a magnetic probe during endoscopy. The remaining magnets were not visible in the duodenum. A plain radiograph taken the next day revealed that the remaining magnets were impacted in the descending-sigmoid junction. One magnet passed spontaneously. However the other 8 magnets did not pass through the junction for 7 days. Five of 8 impacted magnets were removed by a colonoscopic procedure. After 2 hours of colonoscopy, one by one, the remaining three magnets spontaneously passed.

Heterogeneous Spectrum of CFTR Gene Mutations in Korean Patients with Cystic Fibrosis / 대한진단검사의학회지

BACKGROUND: Cystic fibrosis (CF) is one of the most common hereditary disorders among Caucasians. The most common mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been well established among Caucasian populations. In Koreans, however, there are very few cases of genetically confirmed CF thus far, and the spectrum of mutations seems quite different from that observed in Caucasians. METHODS: In the present study, we describe the cases of 2 Korean CF patients, present sequencing results identifying mutations in their CFTR gene, and summarize the results of CFTR mutational spectrum from previously reported Korean CF patients. The mutations described were identified by performing direct sequencing analysis of the complete coding regions and flanking intronic sequences of the CFTR gene, followed by multiplex ligation-dependent probe amplification (MLPA) analysis in order to detect gene deletions or duplications that could not be identified by a direct sequencing method. RESULTS: Three CFTR mutations were identified in the 2 patients, including p.Q98R, c.2052delA, and c.579+5G>A. In an analysis of 9 Korean CF patients that included the 2 patients presented in this study, p.Q98R mutation was the only recurrently observed mutation with a frequency of 18.8% (3/16 alleles). Furthermore, only one of the mutations (c.3272-26A>G) was found among the 32 common mutations in the screening panel for Caucasians from the Cystic Fibrosis Mutation Database. CONCLUSIONS: Sequencing of the entire CFTR gene followed by MLPA analysis, rather than using the targeted sequencing-based screening panel for mutations commonly found in Caucasian populations, is recommended for genetic analysis of Korean CF patients.

Serongative Acute Hepatic Failure-associated Aplastic Anemia in Pediatric Liver Transplantation / 대한이식학회지

Aplastic anemia (AA) is a rare complication of liver transplantation. The causes of AA have not yet been identified, and optimal treatment for AA after liver transplantation has not been firmly established. We experienced two cases of AA accompanied with fulminant hepatitis among 157 pediatric recipients (1.3%) and among 17 recipients of Korean Network of Organ Sharing (KONOS) status 1 (11.8%). The patients were a 16-year-old girl and a 3-year-old boy who had jaundice and lethargy due to non-A, non-B, non-C fulminant hepatitis. The girl underwent split liver transplantation involving the liver of a 24-year-old man, and the boy underwent an emergency living donor liver transplantation with a liver obtained from his 16-year-old cousin. Each transplantation procedure was uneventful. However, both patients were diagnosed with AA caused by thrombocytopenia and neutropenia at 140 and 26 days, respectively, after liver transplantation. The girl recovered completely after undergoing bone marrow transplantation and was followed up for 70 months. However, the boy was conservatively treated because of the development of hyperbilirubinemia and pyrexia. He died of multi-organ failure 74 days after liver transplantation. AA is not a rare complication of pediatric liver transplantation for fulminant hepatic failure. Therefore, AA must be suspected in pediatric cases of cytopenia even after liver transplantation. Our findings indicate bone marrow transplantation is the treatment of choice for AA even in cases where AA develops after liver transplantation.

Serongative Acute Hepatic Failure-associated Aplastic Anemia in Pediatric Liver Transplantation / 대한이식학회지

Aplastic anemia (AA) is a rare complication of liver transplantation. The causes of AA have not yet been identified, and optimal treatment for AA after liver transplantation has not been firmly established. We experienced two cases of AA accompanied with fulminant hepatitis among 157 pediatric recipients (1.3%) and among 17 recipients of Korean Network of Organ Sharing (KONOS) status 1 (11.8%). The patients were a 16-year-old girl and a 3-year-old boy who had jaundice and lethargy due to non-A, non-B, non-C fulminant hepatitis. The girl underwent split liver transplantation involving the liver of a 24-year-old man, and the boy underwent an emergency living donor liver transplantation with a liver obtained from his 16-year-old cousin. Each transplantation procedure was uneventful. However, both patients were diagnosed with AA caused by thrombocytopenia and neutropenia at 140 and 26 days, respectively, after liver transplantation. The girl recovered completely after undergoing bone marrow transplantation and was followed up for 70 months. However, the boy was conservatively treated because of the development of hyperbilirubinemia and pyrexia. He died of multi-organ failure 74 days after liver transplantation. AA is not a rare complication of pediatric liver transplantation for fulminant hepatic failure. Therefore, AA must be suspected in pediatric cases of cytopenia even after liver transplantation. Our findings indicate bone marrow transplantation is the treatment of choice for AA even in cases where AA develops after liver transplantation.

Tufting Enteropathy with EpCAM Mutations in Two Siblings

Tufting enteropathy is a rare autosomal recessive disorder presenting with early-onset severe intractable diarrhea. The epithelial cell adhesion molecule gene (EpCAM) has recently been identified as the gene responsible for tufting enteropathy. Based on histology, a diagnosis of tufting enteropathy was made in two Korean siblings. They developed chronic diarrhea and failure to thrive. They had a broad nasal bridge and micrognathia. Duodenal and colonic biopsies showed villous atrophy, disorganization of surface enterocytes, and focal crowding resembling tufts. Protracted diarrhea continued and so cyclic parenteral nutrition was supplied. The sister had juvenile rheumatoid arthritis. Mutation analysis of EpCAM identified two compound heterozygous mutations in these siblings: 1) a donor splicing site mutation in intron 5 (c.491+1G>A) and 2) a novel nonsense mutation in exon 3 (c.316A>T, Lys106X). Analysis of EpCAM will be useful for genetic counseling and prenatal diagnosis of tufting enteropathy.

Clinical Application of Liver MR Imaging in Wilson's Disease

OBJECTIVE: To determine whether there is a correlation between liver MR findings and the clinical manifestations and severity of liver dysfunction in patients with Wilson's disease. MATERIALS AND METHODS: Two radiologists retrospectively evaluated MR images of the liver in 50 patients with Wilson's disease. The Institutional Review Board approved this retrospective study and informed consent was waived. MR images were evaluated with a focus on hepatic contour abnormalities and the presence of intrahepatic nodules. By using Fisher's exact test, MR findings were compared with clinical presentations (neurological and non-neurological) and hepatic dysfunction, which was categorized by the Child-Pugh classification system (A, B and C). Follow-up MR images were available for 17 patients. RESULTS: Contour abnormalities of the liver and intrahepatic nodules were observed in 31 patients (62%) and 25 patients (50%), respectively. Each MR finding showed a statistically significant difference (p < 0.05) among the three groups of Child-Pugh classifications (A, n = 36; B, n = 5; C, n = 9), except for splenomegaly (p = 0.243). The mean age of the patients with positive MR findings was higher than that of patients with negative MR findings. For patients with Child-Pugh class A (n = 36) with neurological presentation, intrahepatic nodules, surface nodularity, and gallbladder fossa widening were more common. Intrahepatic nodules were improved (n = 8, 47%), stationary (n = 5, 29%), or aggravated (n = 4, 24%) on follow-up MR images. CONCLUSION: MR imaging demonstrates the contour abnormalities and parenchymal nodules of the liver in more than half of the patients with Wilson's disease, which correlates with the severity of hepatic dysfunction and clinical manifestations.