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Purpose The aim of this study was to evaluate diagnostic accuracy and to establish computed tomography (CT) and Doppler ultrasonography (US) criteria for hepatic outflow obstruction after pediatric liver transplantation (LT) using left lobe (LL) or left lateral section (LLS) grafts. Methods Pediatric patients who underwent LT using LL or LLS grafts between January 1999 and December 2021 were retrospectively included. The diagnostic performance of Doppler US and CT parameters for hepatic outflow obstruction was calculated using receiver operating characteristic (ROC) curve analysis. A diagnostic decision tree model combining the imaging parameters was developed. Results In total, 288 patients (150 girls; median age at LT, 1.8 years [interquartile range, 0.9 to 3.6 years]) were included. Among the Doppler US parameters, venous pulsatility index (VPI) showed excellent diagnostic performance (area under the ROC curve [AUROC], 0.90; 95% confidence interval [CI], 0.86 to 0.93; Youden cut-off value, 0.40). Among the CT parameters, anastomotic site diameter (AUROC, 0.92; 95% CI, 0.88 to 0.95; Youden cut-off, 4.2 mm) and percentage of anastomotic site stenosis (AUROC, 0.88; 95% CI, 0.84 to 0.92; Youden cut-off, 35%) showed excellent and good diagnostic performance, respectively. A decision tree model combining the VPI, peak systolic velocity, and percentage of anastomotic site stenosis stratified patients according to the risk of hepatic outflow obstruction. Conclusion VPI, anastomotic site diameter, and percentage of anastomotic site stenosis were reliable imaging parameters for diagnosing hepatic outflow obstruction after pediatric LT using LL or LLS grafts.

Abstract Proper placental development in early pregnancy ensures a positive outcome later on. The developmental relationship between the placenta and embryonic organs, such as the heart, is crucial for a normal pregnancy. However, the mechanism through which the placenta influences the development of embryonic organs remains unclear. Trophoblasts fuse to form multinucleated syncytiotrophoblasts (SynT), which primarily make up the placental materno-fetal interface. We discovered that endogenous progesterone immunomodulatory binding factor 1 (PIBF1) is vital for trophoblast differentiation and fusion into SynT in humans and mice. PIBF1 facilitates communication between SynT and adjacent vascular cells, promoting vascular network development in the primary placenta. This process affected the early development of the embryonic cardiovascular system in mice. Moreover, in vitro experiments showed that PIBF1 promotes the development of cardiovascular characteristics in heart organoids. Our findings show how SynTs organize the barrier and imply their possible roles in supporting embryogenesis, including cardiovascular development. SynT-derived factors and SynT within the placenta may play critical roles in ensuring proper organogenesis of other organs in the embryo.

Abstract X-linked inhibitor of apoptosis protein (XIAP) deficiency causes refractory inflammatory bowel disease. The XIAP protein plays a pivotal role in the pro-inflammatory response through the nucleotide-binding oligomerization domain-containing signaling pathway that is important in mucosal homeostasis. We analyzed the molecular mechanism of non-synonymous pathogenic variants (PVs) of XIAP BIR2 domain. We generated N-terminally green fluorescent protein-tagged XIAP constructs of representative non-synonymous PVs. Co-immunoprecipitation and fluorescence cross-correlation spectroscopy showed that wild-type XIAP and RIP2 preferentially interacted in live cells, whereas all non-synonymous PV XIAPs failed to interact properly with RIP2. Structural analysis showed that various structural changes by mutations, such as hydrophobic core collapse, Zn-finger loss, and spatial rearrangement, destabilized the two loop structures (174–182 and 205–215) that critically interact with RIP2. Subsequently, it caused a failure of RIP2 ubiquitination and loss of protein deficiency by the auto-ubiquitination of all XIAP mutants. These findings could enhance our understanding of the role of XIAP mutations in XIAP-deficient inflammatory bowel disease and may benefit future therapeutic strategies.

Background : Portal vein (PV) interposition can induce various PV-related complications, making more reliable techniques necessary. The present study describes the development of a modified patch venoplasty technique, combining the native PV wall and a vein homograft conduit, called modified patch-conduit venoplasty (MPCV). Methods : The surgical technique for MPCV was optimized by simulation and applied to seven pediatric patients undergoing liver transplantation (LT) for biliary atresia combined with PV hypoplasia. Results : The simulation study revealed that inserting the whole-length native PV wall as a longitudinal rectangular patch was more effective in preventing PV conduit stenosis than the conventional technique using triangular partial insertion. These findings were used to develop the MPCV technique, in which the native PV wall was converted into a long rectangular patch, acting as a backbone for PV reconstruction. A longitudinal incision on the vein conduit converted the cylindrical vein into a large vein patch. The wall of the native PV was fully preserved as the posterior wall of the PV conduit, thus preventing longitudinal redundancy and unwanted rotation of the reconstructed PV. This technique was applied to seven patients with biliary atresia undergoing living-donor and deceased-donor split LT. None of these patients has experienced PV complications for up to 12 months after transplantation. Conclusions: This newly devised MCPV technique can replace conventional PV interposition. MCPV may be a surgical option for reliable PV reconstruction using fresh or cryopreserved vein homografts during pediatric LT.

Background and Aims: Biliary atresia is a rare and devastating bile duct disease that occurs during the neonatal period. Timely identification and prompt surgical intervention is critical for improving the outcome. The aim of the study was to develop a new machine learning–based prediction model for the detection of biliary atresia. Methods: Neonates aged

Purpose This study evaluated the accuracy of attenuation imaging (ATI) for the assessment of hepatic steatosis in pediatric patients, in comparison with the FibroScan vibration-controlled transient elastography controlled attenuation parameter (CAP). Methods Consecutive pediatric patients referred for evaluation of obesity who underwent both ATI and FibroScan between February 2020 and September 2021 were included. The correlation between attenuation coefficient (AC) and CAP values was assessed using the Spearman test. The AC cutoff value for discriminating hepatic steatosis corresponding to a CAP value of 241 dB/m was calculated. Multivariable linear regression analysis was performed to estimate the strength of the association between AC and CAP. The diagnostic accuracy of AC cutoffs was estimated using the imperfect gold-standard methodology based on a two-level Bayesian latent class model. Results Seventy patients (median age, 12.5 years; interquartile range, 11.0 to 14.0 years; male:female, 58:12) were included. AC and CAP showed a moderate-to-good correlation (ρ =0.646, P

The Kasai portoenterostomy is the first-line treatment for the restoration of the flow of bile to the small intestine in patients with biliary atresia. Various complications can occur after Kasai portoenterostomy, including ascending cholangitis, biliary cirrhosis, and portal hypertension. Of these potential complications, ascending cholangitis in the most common. In cases of patients having uncontrolled complications due to progressive liver cirrhosis, portal hypertension, or progressive hyperbilirubinemia, liver transplantation is the indicated as treatment plan. Lifelong follow-up, particularly involving imaging studies, is important for the identification of various complications arising from biliary atresia after Kasai portoenterostomy. Additionally, imaging studies play a crucial role in the evaluation of potential liver donors and recipients. US is a key imaging modality utilized in the management of patients who undergo Kasai portoenterostomy, while CT and MRI are imperative to obtaining an accurate diagnosis.

Biliary rhabdomyosarcoma is a rare tumor, but it is still the most common tumor of the biliary tract in children. We report a case of a 6-year-old boy with biliary embryonal rhabdomyosarcoma and liver metastasis, which were treated with neoadjuvant and adjuvant chemotherapy combined with living donor liver transplantation (LDLT). Initial imaging studies showed a low-attenuation intraductal mass from the left hepatic duct to the intrapancreatic common bile duct with diffuse upstream dilatation of the intrahepatic duct and liver metastasis. Endoscopic biopsy revealed embryonal rhabdomyosarcoma. After tumor size reduction through neoadjuvant chemotherapy, LDLT was planned to remove the tumor completely. A left lateral section graft weighing 330 g was harvested from his 38-year-old mother and the graft-to-recipient weight ratio was 1.94%. Routine pediatric LDLT operation was performed with deep excavation of intrapancreatic distal bile duct. The explant liver showed minimal residual embryonal rhabdomyosarcoma with no lymph node metastasis. The patient recovered uneventfully from LDLT operation. Scheduled adjuvant chemotherapy was performed for 6 months. The patient is doing well without any evidence of tumor recurrence for 26 months after LDLT. In conclusion, liver transplantation could be an effective treatment for unresectable biliary rhabdomyosarcoma in children according to the location of tumor.

Background/Aims: Although pediatric ulcerative colitis (UC) has a different phenotype and clinical course than adult UC, its clinical features and outcomes are poorly defined, especially in Asian populations. This study investigated the clinical features and long-term outcomes of pediatric UC in a Korean population. Methods: We retrospectively analyzed 208 patients aged

Progressive familial intrahepatic cholestasis (PFIC) is an autosomal recessive inherited disease requiring liver transplantation (LT). Hepatocellular carcinoma (HCC) is very rare in infants. We present a case of living donor LT using a left lateral section graft performed in a 7-month-old female infant diagnosed with PFIC type II and HCC. No mutation on ABCB11 gene was identified. Because of progressive deterioration of liver function, living donor LT with her mother’s left lateral section graft was performed. Pretransplant serum alpha-fetoprotein (AFP) level was increased to 2,740 ng/mL, but HCC was not taken into account because of its rarity. The explant liver showed micronodular liver cirrhosis, multiple infantile hemangiomas and two HCCs of 0.7 cm and 0.3 cm in size. The patient recovered uneventfully from the LT operation. This patient has been regularly followed up with abdomen ultrasonography and AFP measurement every 6 months. The patient has been continually doing well for 8 years after the LT. In conclusion, LT is currently the only effective treatment for PFIC-associated end-stage liver diseases. HCC can develop at the cirrhotic liver of any cause, thus elevation of HCC tumor markers in pediatric patients is an important clue to perform further investigation before LT.

Button battery ingestion requires emergency endoscopic removal since severe complications, such as esophageal perforation, can develop within 4 hours of the ingestion. Given that guardians do not witness the children’s foreign body ingestion 40% of the time, physicians can only guess what was swallowed based on plain radiography. We report a case of a 45-month-old-boy who visited the emergency department after swallowing an unknown foreign body and whose radiographs showed “circle-within-a-circle appearance” on the anteroposterior view and “step-off appearance” on the lateral view, suggesting button battery ingestion. We conducted emergency endoscopic removal, and found stacked coins mimicking a button battery on the radiographs. The coins were pushed into the stomach and came out through defecation 3 weeks later without further complications. Distinguishing between stacked coins and a button battery through radiography may help avoid unnecessary emergency endoscopy.

Background/Aims: Recently, the treatment of Crohn’s disease (CD) has changed to a treat-to-target strategy, in which disease progression is prevented with early intervention. We analyzed the long-term evolution of nonstricturing, nonpenetrating (B1) disease at diagnosis and factors related to disease evolution in pediatric CD. Methods: We retrospectively analyzed 402 patients between 2000 and 2013 who were younger than 18 years and had B1 disease at CD diagnosis. The median follow-up was 6.1 years (range, 1 to 13 years). The cumulative probabilities of developing stricturing (B2) or penetrating (B3) disease and associations between risk factors and disease behavior evolution were evaluated. Results: Among the 402 patients, 75 (18.7%) had B2 or B3 disease by the final follow-up. The cumulative probabilities of disease behavior evolution were 18.3%, 34.3%, and 50.9% at 5, 10, and 13 years, respectively. Patients whose disease progressed had an increased risk of intestinal resection (hazard ratio [HR], 3.61; 95% confidence interval [CI], 2.25 to 6.03; p

Abstract Background Prognostic factors in hepatoblastoma need to be reevaluated considering the advances in treatment modalities. The study aimed to evaluate current outcomes of hepatoblastoma and reappraise the association of prognostic factors, including pre‐treatment extent of tumor (PRETEXT) stage with annotation factors and Children's Hepatic tumors International Collaboration‐Hepatoblastoma Stratification (CHIC‐HS) system, with survival outcomes. Methods We evaluated 103 consecutive patients with hepatoblastoma retrospectively according to the treatment period based on the introduction of a liver transplantation program. Results The 5‐year overall survival (OS), event‐free survival (EFS), and transplant‐free survival rates were 80.2%, 74.2%, and 61.8%, respectively. EFS and OS were improved significantly from 58.6% to 81.6% (P = 0.024) and from 58.6% to 90.8% (P

Congenital factor X (FX) deficiency is a rare autosomal-recessive disease that induces bleeding disorder. Herein, we present the 10-year posttransplant course of a pediatric patient who underwent liver transplantation (LT) with portal vein (PV) stenting for correction of severe congenital FX deficiency, with focus on long-term maintenance of coagulation function and patency of PV stenting. A 17-month-old infant with recurrent hemorrhagic episodes due to FX deficiency underwent split LT using a left lateral section graft. The graft-recipient weight ratio was 2.2%. The graft implantation procedures were performed by following the standard pediatric split LT procedure. Nevertheless, a wall stent was inserted due to PV anastomotic stenosis on posttransplant day 1. Graft function recovered slowly because of partial parenchyma infarct, and the patient was discharged at 46 days after LT operation. The FX activity started to increase soon after LT and gradually normalized; the coagulation profiles have been maintained well for the past 10 years. The patient has been doing well for the past 10 years after LT without any episodes of abnormal bleeding. Due to the risk of vascular complications owed to PV stenting, life-long follow-up is mandatory with special attention until attainment of complete physical growth to adolescent and adulthood.

Congenital absence of the portal vein (CAPV) is a rare venous malformation in which mesenteric venous blood drains directly into systemic circulation. Herein, we report a case of pediatric deceased donor liver transplantation (DDLT) for symptomatic CAPV with whole liver graft from a hepatitis B surface antigen (HBsAg)-positive donor. A 4-year-old boy suffered from CAPV and secondary portal hypertension. He was also diagnosed with DiGeorge syndrome and heart anomalies. After waiting for 4 months, a 5-year-old donor weighing 19 kg with positive HBsAg was allocated to this 4-year-old patient weighing 15 kg. Recipient operation was performed according to the standard procedures of pediatric DDLT. Portal vein reconstruction was performed using interposition of a vascular homograft conduit to the superior mesenteric vein-splenic vein confluence. The patient recovered uneventfully from DDLT. He has been administered with lamivudine to prevent hepatitis B virus infection. This patient has been doing well for 5 years after DDLT without growth retardation. In conclusion, CAPV patients can have various vascular anomalies, thus combined vascular anomalies should be thoroughly assessed before and during liver transplantation operation. The most effective reconstruction techniques should be used to achieve satisfactory results following liver transplantation.

Background : We investigated the incidence and outcomes of pediatric deceased donor liver transplantation (DDLT) using whole liver grafts in a high-volume liver transplantation (LT) center. Methods : The study was a retrospective single-center analysis of whole LT in pediatric recipients. The study period was set as 20 years between January 2000 and December 2019. We defined pediatric recipients and donors to be aged ≤18 years. Results : During the study period, there were 98 cases of pediatric DDLT, and 34 patients (34.7%) received whole liver grafts. The age range of the deceased donors was 3 months to 56 years and that of pediatric recipients was 7 months to 17 years. Common primary diseases for LT were biliary atresia in 13, acute liver failure in four, Wilson disease in four, congenital portal vein agenesis in three, and genetic metabolic diseases in three. Pediatric-to-pediatric and adult-to-pediatric whole LTs were 22 (64.7%) and 12 (35.3%), respectively. A good correlation was noted between the donor and the recipient’s body weight, and the recipient’s body weight and allograft’s weight. Graft and overall patient survival rates were 91.2% and 91.2% at 1 year, 88.0% and 88.0% at 3 years, and 88.0% and 88.0% at 5 years, respectively. Conclusions: The results of this study revealed that Korean Network for Organ Sharing (KONOS) regulations with donor-recipient body weight matching exhibited good performance. Considering the reciprocal trades of liver organs among pediatric and adult donors and recipients, it is necessary to establish a policy for pediatric donor liver grafts to pediatric recipients on a priority basis.

Biliary atresia (BA)-polysplenia syndrome (PS) is diagnosed in a small proportion of BA patients. We present a case of split liver transplantation (LT) successfully performed in a pediatric recipient with BA-PS. The recipient was 29-month-old boy who underwent Kasai procedure. The coexisting malformations included agenesis of the inferior vena cava with azygos vein continuation, polysplenia, intestinal malrotation, truncated pancreas, and preduodenal portal vein and annular pancreas. With pediatric end-stage liver disease score of 33, the patient was allocated for split LT. Under this condition, the left lateral section graft was equivalent to a graft-recipient weight ratio of 2.6%. The recipient surgery was performed according to the standard procedures of pediatric LT. The graft hepatic vein was directly anastomosed with the suprahepatic confluence of the recipient hepatic veins. An external iliac vein homograft was interposed for portal vein reconstruction. Portal collateral veins were embolized intraoperatively to secure portal vein inflow. No surgical complications were developed. Currently, the patient has been doing well for 4 years after transplantation. Our pediatric patient with BA-PS had various anatomical malformations. Thorough preoperative and intraoperative assessment of these anomalies, adoption of customized reconstruction techniques of LT, and careful posttransplant monitoring are necessary for successful LT.

Laparoscopically harvested left liver (LL) grafts have drawbacks with respect to the size and shape of graft hepatic vein orifices. We present two cases of pediatric living donor liver transplantation (LDLT) using laparoscopically harvested LL grafts and describe refined surgical techniques for graft hepatic vein venoplasty. The first case was a boy aged 4 years and 5 months, with hepatoblastoma. The donor was his 35-year-old mother, and LL graft weighed 315 g. Two separate openings of the graft at the left hepatic vein (LHV) and middle hepatic vein (MHV) were unified through septotomy and septoplasty, and cryopreserved vein homograft patch was attached. Standard procedures of LDLT were performed. This patient recovered uneventfully and has been doing well for 4 years without tumor recurrence. The second case was a 6-year-old girl with ornithine transcarbamylase deficiency. The donor was her 35-year-old mother, and the LL graft weighed 310 g. Two separate openings of graft MHV, with segment III and segment II veins, were unified through septoplasty, and vein patch was attached. Standard procedures of LDLT were performed. This patient has been doing well for 4 years. In conclusion, separate graft hepatic vein openings are a drawback of laparoscopically harvested LL grafts, which thus require unification venoplasty of customized design individually tailored for LL graft and pediatric recipient.

Summary: Background: Few studies have described the aetiologies of neonatal cholestasis, and the overall neonatal cholestasis-related mortality (NCM) rate is unclear. We investigated the aetiology and outcome of neonatal cholestasis in a tertiary hospital and developed an NCM prediction model for these patients. Methods: Patients aged 1.0 mg/dL were retrospectively screened. Diagnostic and laboratory data during the 8-week follow-up period after enrolment between 2005 and 2020 were extracted digitally, and medical charts were reviewed manually by clinicians. Logistic regression was used to derive a prediction model for the 1-year mortality outcome of neonatal cholestasis, and performance evaluation and external validation were conducted for the NCM prediction model. Findings: We enrolled 4028 neonates with DB of >1.0 mg/dL at least once. Prematurity and birth injury (35.4%), complex heart anomalies (18.6%), liver diseases (11.4%), and gastrointestinal anomalies (9.2%) were the most common aetiologies; 398 (9.9%) patients died before one year of age. The peak value of DB was positively correlated to the 1-year mortality rate. In the multivariate analysis, simple laboratory indices, including platelet, prothrombin time, aspartate aminotransferase, albumin, direct bilirubin, creatinine, and C-reactive protein, were independent predictors of 1-year mortality outcome of complete-case subjects. Using these laboratory indices, a logistic regression-based NCM prediction model was constructed. It showed acceptable performances on discrimination (area under the curve, 0.916), calibration (slope, 1.04) and Brier scoring (0.072). The external validation of the sample (n = 920) from two other centres also revealed similar performance profiles of the NCM model. Interpretation: Various aetiologies of neonatal cholestasis were identified in a tertiary hospital, resulting in unfavourable outcomes of a large proportion. The NCM prediction model may have the potential to help clinicians to be aware of high-risk neonatal cholestasis.

We present a case of successful split liver transplantation (LT) using a hyperreduced left lateral segment (LLS) graft in a 106-day-old female infant patient weighing 4 kg. The patient was diagnosed with progressive familial intrahepatic cholestasis. Her general condition and liver function deteriorated progressively and she was finally allocated for a split LT under status 1. The deceased donor was a 20-year-old female weighing 63.7 kg. We performed in situ liver splitting and in situ size reduction sequentially. The weight of the hyperreduced LLS graft was 225 g, with a graft-recipient weight ratio of 5.5%. We performed recipient hepatectomy and graft implantation according to the standard procedures for pediatric living-donor LT. Since the graft was too large for primary abdomen closure, the abdominal wall was closed in three stages to make a prosthetic silo, temporary closure with a xenograft sheet, and final primary repair over 2 weeks. The patient has been doing well for more than 6 years after transplantation. In conclusion, split LT using a hyperreduced LLS graft can be a useful option for treating small infants. However, large-for-size graft-related problems, particularly in terms of graft thickness, still remain to be solved.

Background : The present study intended to investigate the allocation status of pediatric deceased donor liver allografts. We analyzed the incidence of pediatric deceased donors in the Korean Network for Organ Sharing (KONOS) database and single-institutional status of liver transplantation (LT) using pediatric donors. Methods : We assessed the nationwide incidence of pediatric donors aged ≤15 years and conducted single-center analysis of LT using pediatric donors. Results : Between 2010 and 2019, pediatric donors aged ≤15 years accounted for 171 out of 4,395 donors (3.9%) in the KONOS database and 31 out of 640 liver donors (4.8%) in Asan Medical Center (AMC) database. In AMC, 11 (35.5%) and 20 (64.5%) grafts were allocated to pediatric recipients aged ≤15 years and adult recipients aged ≥19 years, respectively. All nine livers from donors aged ≤5 years were implanted in pediatric recipients aged ≤5 years. From 21 donors aged ≥9 years, 16 whole liver grafts and four split extended right liver grafts were implanted in 20 adult recipients and two split left lateral section grafts were implanted in two pediatric recipients. Four split liver grafts were implanted in other institutions. The overall patient survival rates at 1, 3, and 5 years were 90.9%, 80.8%, and 80.8%, respectively in pediatric-to-pediatric LT group and 69.6%, 58.4%, and 58.4%, respectively in pediatric-to-adult LT group (P=0.21). Conclusions: More than half of the pediatric donor livers were allocated to adult patients. Recipient criteria for allocation of liver allografts from pediatric donors need revision for children on pediatric LT waitlist.

Laparoscopically harvested left lateral section (LLS) grafts have drawbacks regarding the size of the graft left hepatic vein (LHV) orifice although they have the merit of cosmetics concerning the donor’s wound. We present a case of pediatric living donor liver transplantation (LDLT) using a laparoscopically harvested LLS graft and describe the refined surgical techniques for graft LHV venoplasty with a circumferential vein patch. The patient was a 46-month-old boy with marked growth retardation who was diagnosed with progressive familial intrahepatic cholestasis type 2. The donor was his 25-year-old mother. The LLS graft weighed 285 g. A circumferential patch of external iliac vein homograft was attached to the graft LHV orifice after incisions were made at the medial wall of the LHV trunk and superficial LHV branch, which made the graft LHV orifice much larger. The recipient’s hepatic vein orifice was also enlarged by unifying the three hepatic vein orifices. Other surgical procedures followed the standard LDLT operation. This patient recovered uneventfully and has been doing well for 1 year. In conclusion, our incision-and-patch venoplasty to enlarge the graft outflow vein orifice was beneficial for reducing the risk of hepatic vein outflow obstruction in LDLT using a laparoscopically harvested LLS graft.

Background Progressive familial intrahepatic cholestasis (PFIC) is a heterogeneous group of autosomal recessive liver diseases that present as neonatal cholestasis. Little is known of this disease in Korea. Methods The records of five patients histologically diagnosed with PFIC, one with PFIC1 and four with PFIC2, by liver biopsy or transplant were reviewed, and ATP8B1 and ABCB11 mutation status was analyzed by direct DNA sequencing. Clinicopathological characteristics were correlated with genetic mutations. Results The first symptom in all patients was jaundice. Histologically, lobular cholestasis with bile plugs was the main finding in all patients, whereas diffuse or periportal cholestasis was identified only in patients with PFIC2. Giant cells and ballooning of hepatocytes were observed in three and three patients with PFIC2, respectively, but not in the patient with PFIC1. Immunostaining showed total loss of bile salt export pump in two patients with PFIC2 and focal loss in two. Lobular and portal based fibrosis were more advanced in PFIC2 than in PFIC1. ATP8B1 and ABCB11 mutations were identified in one PFIC1 and two PFIC2 patients, respectively. One PFIC1 and three PFIC2 patients underwent liver transplantation (LT). At age 7 months, one PFIC2 patient was diagnosed with concurrent hepatocellular carcinoma and infantile hemangioma in an explanted liver. The patient with PFIC1 developed steatohepatitis after LT. One patient showed recurrence of PFIC2 after 10 years and underwent LT. Conclusions PFIC is not rare in patients with neonatal cholestasis of unknown origin. Proper clinicopathologic correlation and genetic testing can enable early detection and management.

Pediatric esophagogastroduodenoscopy (EGD) has become an established diagnostic and therapeutic modality in pediatric gastroenterology. Effective sedation strategies have been adopted to improve patient tolerance during pediatric EGD. For children, safety is a fundamental consideration during this procedure as they are at a higher risk of severe adverse events from procedural sedation compared to adults. Therefore, a detailed risk evaluation is required prior to the procedure, and practitioners should be aware of the benefits and risks associated with sedation regimens during pediatric EGD. In addition, pediatric advanced life support by endoscopists or immediate intervention by anesthesiologists should be available in the event that severe adverse events occur during pediatric EGD.

Inflammatory bowel disease (IBD) is a chronic relapsing disorder of unknown etiology, which is believed to be multifactorial. Recently, the incidence of pediatric IBD has steeply increased in Korea since 2000. Poorly controlled disease activity can result in complications such as intestinal fistulae, abscess, and stricture, as well as growth retardation and delayed puberty in children. Because of a lack of confirmative tests, various diagnostic modalities must be used to diagnose IBD. Onset age, location, behavior, and activity are important in selecting treatments. Monogenic IBD must be excluded among infantile and refractory very-early-onset IBD. Early aggressive therapy using biologics has recently been proposed for peripubertal children to prevent growth failure and malnutrition.

Chronic granulomatous disease (CGD) is an uncommon inherited disorder caused by mutations in any of the genes encoding subunits of the superoxide-generating phagocyte NADPH oxidase system, which is essential for killing catalase producing bacteria and fungi, such as Aspergillus species, Staphylococcus aureus, Serratia marcescens, Nocardia species and Burkholderia cepacia. In case of a history of recurrent or persistent infections, immune deficiency should be investigated. Particularly, in the case of uncommon infections such as aspergillosis in early life, CGD should be considered. We describe here a case of CGD that presented with invasive pulmonary aspergillosis in a 2-month-old girl. We confirmed pulmonary aspergillosis noninvasively through a positive result from the culture of bronchial alveolar lavage fluid, positive serological test for Aspergillus antigen and radiology results. She was successfully treated with Amphotericin B and recombinant IFN-γ initially. Six weeks later after discharge, she was readmitted for pneumonia. Since there were infiltrates on the right lower lung, which were considered as residual lesions, voriconazole therapy was initiated. She showed a favorable response to the treatment and follow-up CT showed regression of the pulmonary infiltrates.

Purpose : The aims of this study were to investigate the long-term outcomes in children with infantile spasms (IS) and to identify the prognostic factors influencing their neurodevelopment. Methods : We retrospectively evaluated seventy two children over five years old who were treated for IS at Asan Medical Center, Seoul, Korea, between 1994 and 2007. Forty-three children were contacted by telephone or medical follow-up to assess their current neurodevelopmental status. Multiple logistic regression was used to calculate odds ratios (ORs) and 95% confidence interval (95% CIs) of risk factors for unfavorable outcomes. Results : The mean follow-up duration for these 43 children was 7.2¡?#?.5 ;years (range, 4.5 to 13.0 years). Of these, 13 (30.2%) had cryptogenic and 30 (69.8%) had symptomatic IS. Eleven (25.6%) children were initially treated with adrenocorticotrophic hormone (ACTH) therapy, with a mean treatment lag of 1.3¡?#?.9 ;months (range; 0.1 to 7.0 months). Eighteen (41.8%) children clinically responded to initial treatment, as shown by EEG response. Overall, 22 (51.2%) children had at least moderate neurodevelopmental disorders and 2 (4.8%) died. In univariate analysis, etiology (symptomatic) and poor electroclinical response to initial treatment were related to long-term unfavorable outcomes. In multivariate analysis, response to primary treatment was the sole significant independent risk factor with a high OR. Conclusion : Overall prognosis of children with IS was poor. Electroclinical non-responsiveness to initial treatment was related to unfavorable long-term outcomes, indicating that initial control of seizures may be important in reducing the likelihood of poor neurodevelopment.

Drug rash with eosinophilia and systemic symptoms (DRESS) syndrome is characterized by a severe idiosyncratic reaction including rash and fever, often with associated hepatitis, arthralgias, lymph node enlargement, or hematologic abnormalities. The mortality rate is approximately 10%, primarily owing to liver failure with massive or multiple disseminated focal necrosis. Here, we report a case of a 14-year-old girl treated with vancomycin because of a wound infection by methicillin-resistant Staphylococcus aureus, who presented with non-specific symptoms, which progressed to acute liver failure, displaying the hallmarks of DRESS syndrome. With the presence of aggravated hepatic encephalopathy and azotemia, the patient was refractory to medical treatments, she received a living-donor liver transplantation, and a cure was achieved without any sign of recurrence. Vancomycin can be a cause of DRESS syndrome. A high index of suspicion and rapid diagnosis are necessary not to miss this potentially lethal disease.

Purpose: Few studies have reported the prevalence of inflammatory bowel disease unclassified (IBDU) among Korean pediatric IBD (PIBD) population. To address this gap, we used two tertiary centers and nationwide population-based healthcare administrative data to estimate the prevalence of Korean pediatric IBDU at the time of diagnosis. Methods: We identified 136 patients aged 2-17 years with newly diagnosed IBD (94 Crohn's disease [CD] and 42 ulcerative colitis [UC]) from two tertiary centers in Korea between 2005 and 2017. We reclassified these 136 patients using the revised Porto criteria. To estimate the population-based prevalence, we analyzed Korean administrative healthcare data between 2005 and 2016, which revealed 3,650 IBD patients, including 2,538 CD and 1,112 UC. By extrapolating the reclassified results to a population-based dataset, we estimated the prevalence of PIBD subtypes. Results: Among the 94 CD, the original diagnosis remained unchanged in 93 (98.9%), while the diagnosis of one (1.1%) patient was changed to IBDU. Among the 42 UC, the original diagnosis remained unchanged in 13 (31.0%), while the diagnoses in 11 (26.2%), 17 (40.5%), and one (2.4%) patient changed to atypical UC, IBDU, and CD, respectively. The estimated prevalences of CD, UC, atypical UC, and IBDU in the Korean population were 69.5%, 9.4%, 8.0%, and 13.1%, respectively. Conclusion: This study is the first in Korea to estimate the prevalence of pediatric IBDU. This prevalence (13.1%) aligns with findings from Western studies. Large-scale prospective multicenter studies on PIBDU are required to examine the clinical features and outcomes of this condition. [ABSTRACT FROM AUTHOR]

Recurrence of progressive familial intrahepatic cholestasis (PFIC) type II poses challenges during postoperative liver transplant care. Posttransplant patients with PFIC type II risk developing recurrent cholestasis with normal gamma-glutamyl transferase activity, which mimics the original bile salt export pump (BSEP) protein deficiency and is related to a form of immunoglobulin G antibody (anti-BSEP)-mediated rejection. Bortezomib effectively induces apoptosis of actively antibody-producing plasma cells that may have a role in antibodymediated rejection. In this case, we used bortezomib to treat PFIC type II recurrence after liver transplantation in a child. [ABSTRACT FROM AUTHOR]

Purpose: The impact of coronavirus 2019 (COVID-19) on gastrointestinal (GI) endoscopy procedures in adults has been reported, with a drastic reduction in the number of procedures. However, there are no sufficient data regarding the impact on pediatric GI endoscopy. Here, we aimed to report that impact in the Asia-Pacific region. Methods: A questionnaire-based internet survey was conducted from June to November 2021 among pediatric endoscopy institutions in the Asia-Pacific region, with each institution providing a single response. Overall, 25 questions focused on the impact of the number of procedures conducted, the usage of personal protective equipment (PPE), and endoscopy training programs during the pandemic. Results: A total of 162 institutions across 13 countries in the Asia-Pacific region participated in the study, and 133 (82.1%) institutions underwent procedure changes since the emergence of COVID-19. The number of esophagogastroduodenoscopy and ileocolonoscopy procedures decreased in 118/133 (88.7%) and 112/133 (84.2%) institutions, respectively. Endoscopy for patient with positive COVID-19 in an emergency or urgent cases still carried out in 102/162 (62.9%) institutions. Screening of COVID-19 for all patients before endoscopy was done across 110/162 (67.9%) institutions. PPE recommendations varied among institutions. Pediatric gastrointestinal endoscopy training programs were discontinued in 127/162 (78.4%) institutions. Conclusion: This study reports the impact of the COVID-19 pandemic on pediatric gastrointestinal endoscopy in the Asia-Pacific region. There has been a significant reduction in the number of endoscopic procedures and relevant training programs. [ABSTRACT FROM AUTHOR]