Living Donor Liver Transplantation in a Korean Child with Glycogen Storage Disease Type IV and a GBE1 Mutation

Glycogen storage disease type IV (GSD-IV) is an autosomal recessive disease caused by a deficient glycogen branching enzyme (GBE), encoded by the GBE1 gene, resulting in the accumulation of abnormal glycogen deposits in the liver and other tissues. We treated a 20-month-old girl who presented with progressive liver cirrhosis and was diagnosed with GSD-IV, as confirmed by GBE1 gene mutation analysis, and underwent living related heterozygous donor liver transplantation. Direct sequencing of the GBE1 gene revealed that the patient was compound heterozygous for a known c.1571G>A (p.Gly264Glu) mutation a novel c.791G> A (Arg524Gln) mutation. This is the first report of a Korean patient with GSD-IV confirmed by mutation analysis, who was treated successfully by liver transplantation.

A Case of Perilla Allergy in a 2-Year-old Boy / 소아알레르기및호흡기학회지

Even though perilla is one of the most commonly consumed grain in Asia including Korea, perilla allergy is rare. A 2 year-old boy had erythematous popular urticaria on his whole body, as well as vomiting and diarrhea after ingestion of boiled perilla. On the second day of admission, old blood clots in the vomitus and blood tinged stool were shown. He underwent an esophago gastro duodenoscopy which showed a large duonenal ulcer. After treatment, his general condition improved. We report a case of perilla allergy with brief review of related literature.

Coinfection of Viral Agents in Korean Children with Acute Watery Diarrhea

Currently, there are a few reports on viral coinfection that causes an acute watery diarrhea in Korean children. So, to evaluate the features of coinfectious viral agents in children with acute watery diarrhea, we enrolled 155 children with acute watery diarrhea from July 2005 to June 2006. Fecal samples were collected and evaluated for various viral infections such as rotavirus, norovirus, adenovirus and astrovirus. The mean (+/-standard deviation) age of the children was 2.71+/-2.37 yr. The detection rate of viral agents was most common in children between the ages of 1 and 3 yr. Rotavirus was detected in 63 children (41.3%), norovirus in 56 (36.2%), adenovirus in 11 (7.1%), and astrovirus in 1 (0.6%). Regarding rotavirus, there were 38 (60.3%) cases with monoinfection and 25 (39.7%) with coinfection. For norovirus, there were 33 (58.9%) cases with monoinfection and 23 (41.1%) with coinfection. Coinfection with rotavirus and norovirus was most common, and occurred in 20/155 cases (12.9%) including coinfection with adenovirus. So, rotavirus and norovirus were the most common coinfectious viral agents in our study population with acute watery diarrhea.

A Case of Alagille Syndrome with Atresia of the Hepatic Duct / 대한소아소화기영양학회지

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.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

A Case of Crigler-Najjar Syndrome Type 2 Diagnosed Using Genetic Mutation Analysis / 대한소아소화기영양학회지

Crigler-Najjar syndrome is a rare inherited disease associated with unconjugated hyperbilirubinemia. It is inherited via an autosomal recessive pattern and is caused by mutation in one of the five exons of the bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (UGT1A1) gene. The synthesis of inactive isoforms of bilirubin uridine-diphosphoglucuronate glucuronosyltransferase (B-UGT) results in unconjugated hyperbilirubinemia. A 13-year-old boy with jaundice for 4 months was admitted to our hospital. He had unconjugated hyperbilirubinemia with no evidence of infection, hemolysis, or structural abnormalities on abdominal ultrasonography or 99mTc-DISIDA scan. The authors identified a missense mutation of Tyr486Asp in the fifth exon of the UGT1A1 gene and diagnosed the patient with Crigler-Najjar syndrome type II. This is the first reported case of Crigler-Najjar syndrome in a Korean child, and it is also the first reported case of a genetic mutation leading to Crigler-Najjar syndrome in Korea.

Multiple Intestinal Perforations in a Child with Behcet's Disease / 대한소아소화기영양학회지

Behcet's disease (BD) is a multisystem inflammatory disorder dominated clinically by recurrent oral and genital ulceration, uveitis and erythema nodosum. BD is very rare in children, especially those less than 10 years of age, who account for only an estimated 5% of all cases. Gastrointestinal ulcers, in patients with Behcet's disease with intestinal involvement are rare and have been reported in only 1-2% of all cases. The intestinal ulcers of Behcet's disease are usually multiple and scattered and tend to cause perforations associated with significant morbidity. Patients with BD and abdominal symptoms must be evaluated thoroughly for potential perforation of the gastrointestinal tract. Here we report the case of a 4 year 9 month old child with multiple perforations of the gastrointestinal tract associated with BD.

Lamivudine Therapy for Korean Children with Chronic Hepatitis B

PURPOSE: Lamivudine is known to be very effective in suppressing hepatitis B virus replication and virus induced necroinflammation. The aim of this study was to evaluate lamivudine therapy efficacy, predictive factors, breakthrough, prevalence of YMDD mutation, and relapse rate in Korean children with chronic hepatitis B. MATERIALS AND METHODS: Between August 1999 and February 2005, 60 children on lamivudine therapy for chronic hepatitis B were enrolled. Treatment response was defined as alanine aminotransferase (ALT) normalization, and HBeAg and HBV-DNA disappearance. RESULTS: Seroconversion rates of HBeAg and HBV-DNA were 42% and 53%, respectively, and ALT normalization rate was 88%. Seroconversion rates of HBeAg (60.0%) and anti-HBe (60.0%) were higher in patients younger than 6 years. Seroconversion rate of HBV-DNA (68.4%) and normalization rate of serum ALT (94.7%) were highest in patients between 6 and 12 years. Seroconversion rates of all HBV markers were lowest in patients older than 12 years. Predicted 3 year cumulative seroconversion rates, were 70%, 68% for HBeAg, HBV-DNA, respectively. These were calculated by Kaplan-Meier method. Cox proportional hazard regression model showed that pre-treatment ALT was a positive predictive factor for seroconversion of HBeAg and HBV-DNA. Breakthrough phenomenon was noted in 6 patients, and 3 had a YMDD mutation. CONCLUSION: Lamivudine therapy had a significant effect on HBeAg seroconversion and HBV-DNA disappearance, and ALT normalization for Korean children with chronic hepatitis B.

A Case of Idiopathic Portal Hypertension in a 3-year-old Girl / 대한소아소화기영양학회지

A previously healthy 3-year-old girl was admitted to the Department of Pediatrics in Severance Hospital with sudden symptoms of melena. The vital signs were stable, and splenomegaly was found in a physical examination. The patient had moderate thrombocytopenia. There was no evidence of autoimmune disease. A upper gastrointestinal endoscopy and esophagogram showed a varix on the lower esophagus. Coarse liver parenchymal echoes and increased periportal echogenicity were seen on a Doppler sonogram. The velocity of the portal vein mildly increased. Magnetic-resonance-cholangiopancreatogram (MRCP) demonstrated normal portal structures. A sono-guided liver biopsy was performed, but the pathological findings were unremarkable. Based on these findings, we diagnosed the patient with idiopathic portal hypertension. The patient was discharged and was treated with oral beta blocker. We report a case of idiopathic portal hypertension with a brief review of the literature.

Nodular Gastritis and Pathologic Findings in Children and Young Adults with Helicobacter pylori Infection

PURPOSE: The aim of this study was to investigate the pathologic characteristics of nodular gastritis in children and young adults infected with Helicobacter pylori (H. pylori). MATERIALS AND METHODS: A total of 328 patients were enrolled in this study, and the diagnosis of H. pylori infection was done with gastroduodenal endoscopy concomitant with a CLO

Kasai Operation for Extrahepatic Biliary Atresia - Survival and Prognostic Factors

The prognostic factors for extrahepatic biliary atresia (EHBA) after Kasai portoenterostomy include the patient's age at portoenterostomy (age), size of bile duct in theporta hepatis (size), clearance of jaundice after operation (clearance) and the surgeon's experience. The aim of this study is to examine the most significant prognostic factor of EHBA after Kasai portoenterostomy. This retrospective study was done in 51 cases of EHBA that received Kasai portoenterostomy by one pediatric surgeon. For the statistical analysis, Kaplan-Meier method, Logrank test and Cox regression test were used. A p value of less than 0.05 was considered to be significant. Fifteen patients were regarded as dead in this study, including nine cases of liver transplantation. There was no significant difference of survival to age. The age is also not a significant risk factor for survival in this study (Cox Regression test; p = 0.63). There was no significant difference in survival in relation to the size of bile duct. However, bile duct size was a significant risk factor for survival (Cox Regression test; p = 0.002). There was a significant difference in relation to survival and clearance (Kaplan-Meier method; p = 0.02). The clearing was also a significant risk factor for survival (Cox Regression test; p = 0.001). The clearance of jaundice is the most significant prognostic factor of EHBA after Kasai portoenterostomy.

A Case Report of Acute Pancreatitis Caused by Mycoplasma Pneumoniae Infection / 대한소아소화기영양학회지

Acute pancreatitis is associated with a wide variety of infectious agents including mumps, hepatitis B virus, Coxsackie virus, Mycoplasma, Legionella, Aspergillus and Toxoplasma. There are a few reports of acute pancreatitis caused by Mycoplasma pneumoniae infection abroad, but rare in Korea. We treated a case of acute pancreatitis in a 13-year-old girl who presented with nausea, vomiting, diarrhea and severe abdominal pain. The clinical and laboratory findings led to the diagnosis of acute pancreatitis; the cause was confirmed by serological evidence of mycoplasma pneumoniae infection. We report acute pancreatitis caused by mycoplasma pneumoniae infection and review the literature.

A Case of Gall Bladder Polyp in Children / 대한소아소화기영양학회지

Polypoid tumors of the gallbladder are diagnosed very rarely in children; there are only 13 cases of childhood gallbladder polyps reported in the medical literature worldwide. Unlike those found in adults that consist mostly of cholesterol, polypoid tumors in children tend to have variable pathologic features. For pediatric patients, cholecystectomy is recommended either when the polyp is larger than 1 cm or when it causes significant symptoms. But close observation with serial abdominal sonography is sufficient in most asymptomatic pediatric patient. Recently, we experienced a 15-year-old boy with gallbladder polyps who presented with recent onset abdominal pain and nausea. A cholecystectomy using peritoneoscope was performed. The pathologic examination of the polyp revealed a tubular adenoma.

Vital Sign and Sedative Effect of Midazolam for Conscious Sedation during Upper Gastrointestinal Endoscopy / 대한소아소화기영양학회지

PURPOSE: Esophagogastroduodenoscopy (EGD) is a very useful procedure in diagnosing gastrointestinal diseases. However, there can be some difficulty in performing this procedure in children due to the associated discomfort. Recently, sedative agents such as midazolam have been introduced to alleviate this problem quite successfully. In our study, we attempted to confirm the safety and efficacy of midazolam use by monitoring the vital signs of children undergoing endoscopy. METHODS: We analyzed data on 244 children who received EGD in the department of pediatrics at Severance Hospital, Yonsei University between August 2003 and July 2005. We evaluated O2 saturation, heart rate and change of mental status before and during the procedure and analyzed the results using the SPSS 12.0 package (Chi-square test, cross table method, etc.). RESULTS: There was no significant difference in vital signs measured before and during EGD between midazolam treated and non treated children. There was no significant relationship between the amount of midazolam given and O2 saturation or a change of mental status. Regarding the O2 saturation, it was decreased during EGD in both groups with p<0.01 though no difference was noted between the groups; the O2 level was maintained above 95% in all patients. The heart rate was also increased during EGD in both groups with a p<0.01; however, no significant difference was noted between the groups. CONCLUSION: We confirmed the safety of low dose midazolam by evaluating the vital signs of children during endoscopies. However, the doses used were not sufficient for sedation or to obtain an amnestic effect.

The Correlation of Verbal Expression of Stool, Bristol Stool Form Scale and Colon Transit Time for Children with Gastrointestinal Symptoms / 대한소아소화기영양학회지

PURPOSE: The aim of this study was to evaluate the correlation among descriptions regarding one's stool, Bristol stool form scale and colon transit time (CTT) in children with gastrointestinal symptoms, along with the clinical significance of Bristol stool form scale. METHODS: 489 patients treated in the pediatric department of Severance hospital with gastrointestinal symptoms between May 2002 to May 2004 were included. We analyzed their age, sex, verbal descriptions of stool, Bristol stool form types, and CTT measured by Metcalf's method. RESULTS: 116 children were under 5 years of age, 202 children between 5.1~10, and 171 children 10 years of age or older. Their mean age was 8.2+/-3.9 years. Stools were described as loose in 65 children (13.3%), normal in 221 (45.2%), hard in 188 (38.4%), and mixed (loose+hard) in 15 (3.1%). According to Bristol stool form scale, 57 children(11.7%) were classified as type 1, 66 (13.5%) as type 2, 203 (41.5%) as type 3, 109 (22.3%) as type 4, 36 (7.4%) as type 5, 18 (3.7%) as type 6, and 1 (0.2%) as type 7. Their mean CTT was checked 35.9+/-19.5 hours. Though no significant relationship was observed between age and CTT (p=0.4), a significant relationship was noted among patient's stool description, Bristol stool form scale and CTT (p<0.001). However, concordance between stool description and Bristol stool form was relatively low in the loose stool group (29%) and normal stool group (37%) while high in the hard stool group (87%). CONCLUSION: Bristol stool form scale could be used in the estimation of CTT in clinical practice.

A Clinical Study for Gall Bladder Stones in Children / 대한소아소화기영양학회지

PURPOSE: Gall bladder (GB) stones in children are rarely observed, and so reports of them have been quite limited in Korea. Therefore, we tried to assess the epidemiology and clinical features of children with GB stone diagnosed at Severance Hospital. METHODS: A clinical study was performed on 18 patients below 15 years of age diagnosed with GB stone by abdominal ultrasonography or CT scan at Severance hospital from January 1999 to May 2005. RESULTS: Concerning patients' profile, their sex ratio of male to female in total 18 cases was 2:1 with the mean age of 6+/-4.3 years. 15 patients (83.3%) were asymptomatic. Inducing factors were found in 14 children (77.8%) including ceftriaxone therapy in 6 cases (33.3%), infection in 4 cases (22.2%), spherocytosis in 3 cases (16.7%), Down syndrome and abdominal operation in 1 case (5.6%) respectively. Single stone was found in 13 cases (76.5%) and multiple in 4 cases (23.5%). 15 cases (88.2%) had the stones less than 5 mm in size, and 2 cases (11.8%) between 5 and 10 mm. 17 patients received conservative treatment, and one patient had cholecystectomy due to Meckel diverticulum. CONCLUSION: In this report, Pediatric GB stones are predominant in male children, without typical symptoms, having inducing factors, single and small. Recently the diagnosis of them has been increased because of the development of imaging study. But the reports for them were still rare in Korea. Therefore the study for them is more necessary to find it's clinical characteristics.

A Case of Erythropoietic Protoporphyria with Severe Liver Dysfunction and Neurological Symptoms / 대한소아소화기영양학회지

Erythropoietic protoporphyria is a genetic disorder due to a deficiency of ferrochelatase resulting in excessive accumulation and excretion of protoporphyrin. The predominant clinical feature is photosensitivity. Severe hepatic failure occurs in a small percentage of patients, and neurological symptoms are very rare. We report a case of erythropoietic protoporphyria associated with severe hepatic dysfunction and neurological symptoms. A 9-year-old girl presented with severe abdominal pain, nausea, weakness and pain of extremities, and urinary retention. Ultrasonogram and abdominal CT scanning revealed a diffuse infiltrated and enlarged liver. Liver biopsy showed deposition of dense dark brown pigment within the bile, hepatocytes and Kupffer cells. Plus, dense dark brown deposits gave a red birefringent under polarize light. Porphyrin studies demonstrated markedly elevated serum free erythrocyte protoporphyrin. This girl was diagnosed as erythropoietic protoporphyria with severe liver dysfunction and neurological symptoms.

A Case of Gastric Anisakiasis with Recurrent Abdominal Pain in a Child / 대한소아소화기영양학회지

Anisakiasis is a accidental parasitic infection caused by nematode larvae belonging to the subfamily Anisakinae when a raw or inadequately cooked fish is ingested. The common clinical symptoms are severe colicky abdominal pain or epigastric full sensation, nausea, vomiting and fever, but hematemesis or melena is very rare. We report a case of a 11-year-old female child who developed severe epigastric pain recurrently for 2 months, and recalled that she had eaten the raw flesh of an Astroconger myriaster. Endoscopic examination showed the whitish worm invading the stomach wall. Clinical symptoms disappeared after endoscopic removal. This study may be the first pediatric case of gastric anisakiasis in korea.

Natural History of Chronic Hepatitis B in Children / 소아과

PURPOSE: We investigated the spontaneous seroconversion rate of hepatitis B viral markers and predictive factors affecting seroconversion in children with chronic hepatitis B. METHODS: The study population included 214 children diagnosed as chronic hepatitis B, with positive HBsAg, HBeAg and HBVDNA over six months, and all patients had a family history of chronic Hepatitis B. They were followed between May 1982 and Febrary 2003 in the Department of Pediatrics, Yonsei University College of Medicine. Serum HBsAg, HBeAg, anti-HBs, HBVDNA, and AST/ALT were measured every six months. RESULTS: The mean age of patients was 7.4+/-4.5 years. The loss of HBeAg, HBVDNA and HBsAg were observed in 44(19.2%), 34(15.9%) and 3(1.4%) children respectively. The patients with serum ALT levels over three times normal and with HBVDNA less than 1,000 pg/dL showed significantly higher seroconversion rates of HBeAg and HBVDNA(P<0.001). By analyzing with the life table method, the cumulative seroconversion rate of HBeAg was 11% at 10 and 35% at 19 years of age, while HBVDNA was 9% at 10 and 32% at 19 years of age. In cases of HBsAg, the cumulative seroconversion rate was only 1.5% at 19 years of age. The age of patients, serum ALT and HBVDNA levels were proven as signifincant factors influencing the seroconversion of HBeAg and HBVDNA(P<0.001). CONCLUSION: In children with chronic hepatitis B, the seroconversion rate of HBeAg and HBVDNA are expected to be 35% and 32%, respectively, by the age of 19 years. The age of patients, serum ALT and HBVDNA levels seem to have significant influence on HBeAg and HBVDNA seroconversion.

Therapeutic Effect of Helicobacter pylori Eradication in Children with Recurrent Abdominal Pain Associated with H. pylori / 소아과

PURPOSE: In order to clarify the role of Helicobacter pylori(H. pylori) in recurrent abdominal pain, we investigated prospectively the effect of eradication of H. pylori based on symptom improvement in children with recurrent abdominal pain. METHODS: Children with recurrent abdominal pain were evaluated with diagnostic upper gastrointestinal endoscopy to rule out peptic ulcer disease, etc. During endoscopy, biopsies were taken and sent for CLO test and histologic evaluation with H-E stain and Alcian-Yellow stain. Twenty four out of 28 H. pylori infected children didn't have peptic ulcer disease. They underwent triple therapy with bismuth subcitrate, amoxicillin and clarithromycin. Four weeks after the end of the therapy, patients were evaluated with regard to their symptoms. RESULTS: In patients with H. pylori eradication, the mean total symptom score decreased significantly at four weeks' follow-up after the treatment(9.1+/-3.6 vs. 1.4+/-1.5; P<0.001). The frequency of abdominal pain per week also decreased significantly from 26.0+/-21.1 times/week to 1.4+/-1.5 times/ week after eradication of H. pylori(P<0.001). Age, duration of symptom and endoscopic findings did not prove to be positive predictive factors of significant improvement of symptoms after H. pylori eradication. CONCLUSION: We strongly recommend looking for H. pylori infection in children complaining of recurrent abdominal pain. Eradication of this organism will effectively and significantly reduce the extent of symptoms associated with recurrent abdominal pain.