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Zellweger syndrome or cerebrohepatorenal syndrome is a rare, multisystem disorder occurring due to defect in metabolic pathway within the peroxisomes. Cirrhosis with portal hypertension is an important presentation of these patients. Given its progressive, multisystem nature, the role of liver transplantation (LT) in Zellweger syndrome remains undefined and controversial. An 11-y-old boy diagnosed with Zellweger syndrome presented to the authors with decompensated cirrhosis along with bilateral proptosis. After a meticulous evaluation, he was offered an ABO incompatible liver transplantation with his mother being the donor. He had an uneventful post operative period. After a follow up of 24 mo, he has normal graft function, normal cognition along with resolution of proptosis. Therefore, in a group of carefully selected patients with Zellweger syndrome, a liver transplantation can be offered successfully with an excellent prognosis. [ABSTRACT FROM AUTHOR]

Liver tumors in children are uncommon and show remarkable morphologic heterogeneity. Pediatric tumors may arise from either the epithelial or mesenchymal component of the liver and rarely may also show both lines of differentiation. Both benign and malignant liver tumors have been reported in children. The most common pediatric liver tumors by age are benign hepatic infantile hemangiomas in neonates and infants, malignant hepatoblastoma in infants and toddlers, and malignant hepatocellular carcinoma in teenagers. Here, we provide an up-to-date review of pediatric liver tumors. We discuss the clinical presentation, imaging findings, pathology, and relevant molecular features that can help in the correct identification of these tumors, which is important in managing these children. [ABSTRACT FROM AUTHOR]

An aggressive Epstein–Barr virus (EBV)-associated inflammatory pseudotumor-like follicular dendritic cell (IPT-like FDC) sarcoma is reported in an adult female. The patient developed multifocal recurrence and passed away 13 months after the initial surgical resection. A bright field microscopic examination of the tumor demonstrated a classical growth pattern and the diffuse expression of Programmed death ligand 1 (PD-L1) and somatostatin receptor 2a (SSTR2a). [ABSTRACT FROM AUTHOR]

Intermediate cell carcinoma is one of the rarest forms of primary liver cancer comprising relatively monomorphic populations of neoplastic epithelial cells demonstrating simultaneous positivity of both hepatocyte and cholangiocyte immunohistochemical markers. Here in, we describe an adult male patient who underwent left hepatectomy for a large liver tumor. The pathological and immunohistochemical analysis revealed the malignant primary liver cancer with intermediate cell morphology and mixed immunophenotypic features consistent with intermediate cell carcinoma. Furthermore, the genomic profiling using the Next-generation sequencing (NGS) platform demonstrated that there is a novel amplification with copy number gain 12 (12 gene copies) in the Neurotrophic Receptor Tyrosine Kinase 1 (NTRK1) gene, being an oncogenic driver of intermediate cell carcinoma. This is the first case report with the amplification in NTRK1 and emphasizes the importance of molecular oncology. [ABSTRACT FROM AUTHOR]

Hepatocellular carcinoma (HCC) in pediatrics has a uniformly poor prognosis. Complete surgical resection or liver transplantation remain the only curative options. In contrast to adult HCC, literature on pediatric HCC is sparse and a majority of the distinct subtypes are undefined with regards to their histology, immunohistochemistry and prognosis. Two infants, one with biliary atresia and another with transaldolase deficiency, underwent living donor liver transplants. Explant-liver histopathology revealed tumor with diffuse neoplastic syncytial giant cell pattern. Immunophenotypic characterization highlighted expression of epithelial cell adhesion molecule, alpha fetoprotein and metallothionein. HCC with syncytial giant cells variant can occur in infants with underlying liver disease, specifically in our experience, with biliary atresia and another with transaldolase deficiency. [ABSTRACT FROM AUTHOR]

Emerging evidence suggests that enhanced ribosome biogenesis, increased size, and quantitative distribution of nucleoli are associated with dysregulated transcription, which in turn drives a cell into aberrant cellular proliferation and malignancy. Nucleolar alterations have been considered a prognostic histological marker for aggressive tumors. More recently, advancements in the understanding of chromatin network (nucleoplasm viscosity) regulated liquid–liquid phase separation mechanism of nucleolus formation and their multifunctional role shed light on other regulatory processes, apart from ribosomal biogenesis of the nucleolus. Using hepatocellular carcinoma as a model to study the role of nucleoli in tumor progression, we review the potential of nucleolus coalescence in the onset and development of tumors through non-ribosomal biogenesis pathways, thereby providing new avenues for early diagnosis and cancer therapy. Molecular-based classifications have failed to identify the nucleolar-based molecular targets that facilitate cell-cycle progression. However, the algorithm-based tumor risk identification with high-resolution medical images suggests prominent nucleoli, karyotheca, and increased nucleus/cytoplasm ratio as largely associated with tumor recurrence. Nonetheless, the role of the non-ribosomal functions of nucleoli in tumorigenesis remains elusive. This clearly indicates the lacunae in the study of the nucleolar proteins pertaining to cancer. [ABSTRACT FROM AUTHOR]

Background: Primary immunodeficiency (PID) having defects related to lymphocyte cytotoxic pathway or T-cell dysfunction are well known for developing opportunistic infections and Epstein-Barr virus (EBV)-associated diseases. CARMIL2 deficiency is a recently described combined immunodeficiency (CID) disorder characterized by defective CD28-mediated T cell co-stimulation, altered cytoskeletal dynamics, susceptibility to various infections and Epstein Barr Virus smooth muscle tumor (EBV-SMT). Case report: We report a homozygous CARMIL2 pathogenic variant presenting with recurrent infections and EBV associated smooth muscle tumor (SMT) in a child. Conclusion: The present study reports that EBV SMT may occur in a child with CARMIL2 deficiency. [ABSTRACT FROM AUTHOR]

Background: Exome sequencing studies have recently identified novel genes implicated in normal or low GGT pediatric cholestasis including myosin 5B (MYO5B). Case report: We identified novel compound heterozygote mutations in exon 14 and exon 19 of the MYO5B gene in an 18-month-old Indian child with history of fluctuating jaundice and severe pruritus. His liver biopsy showed portal and perivenular fibrosis with focal bridging septa and mild activity. He is currently on UDCA, cholestyramine and vitamin supplements. There is no history of diarrhea. His asymptomatic mother showed heterozygous mutation in exon 19 of the MYO5B gene and his asymptomatic father showed heterozygous mutation in exon 14 of the MYO5B gene. Conclusion: Our report confirms that patients with compound heterozygote mutations in MYO5B develop progressive cholestasis with no intestinal disease. [ABSTRACT FROM AUTHOR]

Congenital bile acid synthesis defect type 3 is a rare metabolic liver disease with only eight patients reported in literature. We describe clinical, pathological and molecular features for a ninth patient. A 4-month-old infant presented to us with conjugated hyperbilirubinemia. His liver biopsy revealed giant cell change, steatosis, and activity with diffuse fibrosis. Immunostaining with bile salt export pump showed preserved canalicular pattern and γ-glutamyl transferase 1 staining showed unusual complete membranous pattern. Genetic workup revealed homozygous single base pair duplication in exon 3 of the CYP7B1 gene. He succumbed to liver disease at 7 months of age. [ABSTRACT FROM AUTHOR]

Objectives: To report the experience of liver transplantation (LT) for tyrosinemia type 1 (TT-1). Methods: Clinical data of children with TT-1 who underwent living donor LT between July 2009 and May 2020 were retrospectively analyzed. Data included pre-LT nitisinone therapy, graft type, post-LT complications, HCC incidence, and graft/patient survival. Results: Nine children were diagnosed with TT-1 at a median age of 12 mo (6–54 mo). Nitisinone was started in 6 patients at a median age of 15 mo (6–42 mo), but all had frequent interruption of therapy due to logistics with drug procurement including its cost. Median age at transplantation was 5 y (2–11 y). Explant liver showed HCC in 5 patients (55% of total cohort). The graft and patient survival are 100% with median follow-up of 58 mo (24–84 mo). Conclusion: LT is curative for TT-1 and excellent results can be obtained in experienced centers. This is especially favorable in countries with limited resources where the cost of medical therapy is highly prohibitive, with lifelong diet restrictions and unclear long-term risk of HCC. [ABSTRACT FROM AUTHOR]

Whole-exome sequencing studies have recently identified novel genes implicated in normal- or low-GGT pediatric cholestasis including ubiquitin-specific peptidase 53 (USP53). We identified novel biallelic mutations in the USP53 gene in a 7-month-old infant with pruritus and progressive intrahepatic cholestasis. His liver biopsy showed portal and perivenular fibrosis with bland bilirubinostasis. His parents were asymptomatic heterozygous for the same mutation. He is currently on vitamin supplements and cholestyramine and his family has also been counseled for liver transplantation. Our report confirms that patients with biallelic mutation in USP53 develop cholestatic liver disease. [ABSTRACT FROM AUTHOR]

Alagille syndrome (ALGS) is an autosomal dominant disorder characterized by involvement of various organ systems. It predominantly affects the liver, skeleton, heart, kidneys, eyes and major blood vessels. With myriads of presentations across different age groups, ALGS is usually suspected in infants presenting with high gamma glutamyl transpeptidase cholestasis and/or congenital heart disease. In children it may present with decompensated cirrhosis, intellectual disability or short stature, and in adults vascular events like stroke or ruptured berry aneurysm are more commonly noted. Liver transplantation (LT) is indicated in children with cholestasis progressing to cirrhosis with decompensation. Other indications for LT include intractable pruritus, recurrent fractures, hepatocellular carcinoma and disfiguring xanthomas. Due to an increased risk of renal impairment noted in ALGS, these patients would require optimized renal sparing immunosuppression in the post-transplant period. As the systemic manifestations of ALGS are protean and a wider spectrum is being increasingly elucidated, a multidisciplinary team needs to be involved in managing these patients. Moreover, many basic-science and clinical questions especially with regard to its presentation and management remain unanswered. The aim of this review is to provide updated insights into the management of the multi-system involvement of ALGS. [ABSTRACT FROM AUTHOR]

Posttransplant lymphoproliferative disease (PTLD) is the most common malignant complication after solid organ transplantation. Gastrointestinal involvement as the presentation in early PTLD can occur in 25–30% of pediatric liver transplant recipients and can be the only system involved in 20%. Recurrent gastrointestinal perforation due to resolution of PTLD is an extremely rare complication. We report a 13-month-old male child diagnosed with PTLD, treatment of which lead to recurrent intestinal perforations. The child presented with gastrointestinal bleed 5 months after living donor liver transplantation for biliary atresia. Evaluation was suggestive of PTLD and biopsy confirmed diffuse large B-cell lymphoma. Positron emission tomography scan showed diffuse involvement of small intestine and ileum. Tacrolimus was withdrawn abruptly following diagnosis of PTLD as there was associated renal impairment. Child developed six episodes of small intestinal perforations over 3 weeks which required multiple laparotomies with closure of perforation and/or small bowel resection. Complete remission was achieved six months after diagnosis with cessation of immunosuppression alone and child is alive at 48 months follow-up without any recurrence. To avoid bowel perforation and complications related to tumor necrosis, immunosuppression reduction in PTLD should be gradual while carefully monitoring Epstein–Barr virus levels, tumor response, graft function, and general health status of the patient. [ABSTRACT FROM AUTHOR]

Background: The impact of incidentally detected hepatocellular carcinoma (iHCC) in explanted liver on the prognosis of the patients undergoing orthotopic liver transplantation remains controversial with several studies reporting survival worse than true non-hepatocellular carcinoma (non-HCC) recipients. Patients undergoing living donor liver transplantation (LDLT) have the benefit of a shorter waiting time to transplant which in principle should reduce the frequency of new tumors developing while waiting for transplant. We aimed to evaluate the incidence, histopathological features, and impact of iHCC on short- and long-term outcomes in adult LDLT recipients. Methods: The present study retrospectively analyzed the patients' demographics, tumor characteristics, and outcomes of iHCC in adult patients undergoing LDLT for non-HCC indications at our center between August 2009 and March 2018. Results: Five hundred and forty-five adults underwent LDLT in our center during the study period. iHCC was detected in the explanted livers in 28 patients (5.1%) out of 545 LDLTs. Only one patient had iHCC beyond Milan criteria. No tumor recurrence was observed in the iHCC cohort after a median follow-up of 28 months. Five-year overall and recurrence-free survival was 96.4%. Conclusions: Incidence of iHCC in explanted livers after LDLT is low and most patients have very early-stage tumors with excellent recurrence-free survival. Hence, no specific post-transplant surveillance or treatment is necessary. [ABSTRACT FROM AUTHOR]

Background and Aim: To determine the concordance of liver explants with the pretransplant diagnosis. Methods: This was a retrospective analysis of 251 liver explants. Patient information included demography, comorbidity, and etiological diagnosis. Final diagnosis was based on morphological and histological findings. For non‐alcoholic steatohepatitis (NASH) and cryptogenic cirrhosis, we investigated comorbid states such as obesity, hypertension, and diabetes. Chi square test and Cohen's Kappa value were used. A P value of <0.05 was considered significant. Results: A total of 192 patients (76.5%) were males. A significant concordance of explant diagnosis with pretransplant diagnosis was present in 225 (89.6%) patients. It was 100% for alcohol‐related disease, hepatitis B, hepatitis C, autoimmune (AI) liver disease, biliary cirrhosis, and Budd–Chiari syndrome. Of 37 patients with a pretransplant diagnosis of cryptogenic cirrhosis, major discordance was observed in 23 (62.1%). On explant, seven patients each had hemochromatosis 5 (13.5%), AI hepatitis, and NASH (18.9%); two had noncirrhotic fibrosis (5.4%); and one each had Wilson's disease and congenital hepatic fibrosis (2.7%). Of the 20 explants, 3 with pretransplant diagnosis of NASH had a diagnosis of cryptogenic cirrhosis on explant specimens. Cohen's Kappa for the concordance of pretransplant diagnosis and explant diagnosis in NASH and cryptogenic cirrhosis patients was 0.75 and 0.47, respectively. An incidental hepatocellular carcinoma was picked up in 16 explants, and 18 had granulomas. Conclusion: Concordance between pretransplant and explant diagnosis is lower for NASH and cryptogenic cirrhosis. The true prevalence of cryptogenic cirrhosis in our study was 5.6%. [ABSTRACT FROM AUTHOR]

Aims: The aim of our study was to compare the outcome of Kasai portoenterostomy (KPE) in children with biliary atresia (BA) older than 90 days to children less than 90 days and to study its safety and efficacy in children older than 90 days. Subjects and Methods: Relevant data were collected from our prospectively maintained database of all children with BA who underwent KPE over a 5-year period. Children were divided into two groups: Group 1 -90 days and Group 2 >90 days. Data analyzed and compared included total and direct bilirubin, aspartate aminotransferase-to-platelet ratio index (APRI), and the outcome of procedure which was defined as a serum direct bilirubin <2 mg/dl within 6 months after surgery. Standard statistical tests were used for analysis. Results: Out of 62 children, 45 children were in Group 1 and 17 children were in Group 2. Children in Group 2 had similar total and direct bilirubin compared to children in Group 1. APRI, an indicator of fibrosis, was significantly increased in Group 2 (P = 0.08). About 47% of children in Group 2 had Stage III fibrosis on liver histology compared to 22% of children in Group 1. None of the children in Group 2 had synthetic liver failure (refractory ascites, hypoalbuminemia, or coagulopathy unresponsive to Vitamin K) or portal hypertension. KPE was successful in 29.4% of children in Group 2 and 44% in children in Group 1. There was no perioperative mortality in our group. Conclusions: KPE was successful in a third of children over 90 days of age and can be safely performed in this group. In the absence of synthetic liver failure, age should not be a disqualification for performing KPE. [ABSTRACT FROM AUTHOR]

The disease phenotype in biliary atresia (BA) is caused by a fibro-inflammatory process leading to destruction of cholangiocytes, obstruction of ductular pathways and eventual progression to liver cirrhosis. The first line of management is a Kasai portoenterostomy (KPE) followed by liver transplantation (LT) in some children. Several factors have been postulated to affect the outcome of KPE and/or the subsequent progression of liver disease. However, no biomarkers have been identified in the liver for BA. We aimed to address this deficit. Whole transcriptome mRNA sequencing was performed for 29 samples (25 BA and 4 Controls) to identify the candidate genes predicting the prognosis of KPE. These results were further confirmed with quantitative Realtime PCR (qPCR). Analysis from RNA-sequencing data identified matrix metalloproteinase7 (MMP7) and phosphoenolpyruvate carboxykinase (PCK1) as potential determinants of the outcome of KPE. MMP7 expression was significantly elevated in patients who failed to clear jaundice after KPE as well as in patients with End Stage Liver Disease (ESLD). In contrast, PCK1 level was upregulated in patients who had successful KPE, while there was a significant down regulation in patients who failed KPE. MMP7 and PCK1 expression patterns had an inverse relation to the outcome of KPE and hence could potentially be used as biomarkers to predict KPE outcome and disease progression, enabling clinicians to design new treatment strategies for BA. [ABSTRACT FROM AUTHOR]

Intracranial myoepithelial tumors are extremely rare with <10 cases reported outside the sellar region. The authors describe a case of a 43-year-old male patient who presented with headache, numbness in the face, and a dumbbell-shaped lesion in the Meckel's cave clinically and radiologically suggestive of a Schwannoma. The histopathological and immunohistochemical evaluation led to a diagnosis of myoepithelioma. A review of literature reveals that this is only the ninth case of intracranial myoepithelial tumor reported, fifth benign case, and the first to be reported in the Meckel's cave region. [ABSTRACT FROM AUTHOR]

Multidrug-resistant P-glycoprotein 3 (MDR3) is a phospholipid translocator encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine across the canalicular membrane of the hepatocyte into bile. Severe MDR3 deficiency typically occurs during childhood with progressive cholestasis evolving to cirrhosis and liver failure, requiring liver transplantation. In this article, we report 2 pediatric cases of severe MDR3 deficiency with paucity of interlobular bile ducts. Both underwent living donor liver transplantation at our center for decompensated liver disease and portal hypertension. We diagnosed severe MDR3 deficiency in both the cases with negative MDR3 immunostaining in the explanted liver. Genetic studies revealed homozygous deletion single base pair deletion in exon 24 of the ABCB4 gene in the second child. The patients are on regular follow-up after liver transplant and are doing well. Our report highlights that cholangiopathy in MDR3 deficiency can lead to ductopenia in pediatric livers. [ABSTRACT FROM AUTHOR]

Childhood polyarteritis nodosa (c-PAN) is one of the rare causes of childhood central nervous system (CNS) vasculitis. Nervous system involvement is less common, with peripheral nervous system frequently involved than the CNS. To the best of our knowledge, a very few cases of c-PAN presenting as CNS vasculitis involving both the anterior and posterior circulation have been reported in the literature. Hence, we report a 14-year-old female presenting with extensive CNS vasculitis with severe neurological deficits. She also had systemic symptoms, myalgia, leg ulcers, weight loss, axonal neuropathy, and proteinuria. She was treated with pulse methylprednisolone, monthly intravenous pulse cyclophosphamide, and intravenous immunoglobulin. At the end of 3 months, her proteinuria came down significantly with no major improvement in her neurological status. Hence, c-PAN has to be considered in the differential diagnosis of childhood CNS vasculitis and if not picked up early can lead to severe neurological deficits. [ABSTRACT FROM AUTHOR]

Background/Aims: Biliary atresia (BA) is a cholangio-destructive disease of the infant liver presenting with features of obstructive cholangiopathy. The Kasai portoenterostomy (KPE) is the first line of management. The aim of our study was to identify the characteristic features of liver histology in BA that impact the outcome of KPE. Patients and Methods: Data from 30 consecutive children was retrieved from our prospectively maintained database of children undergoing KPE. This included basic demographics, laboratory values and histopathological data from liver biopsy. The stages of fibrosis, presence of ductal plate malformation (DPM), giant cell transformation, extramedullary hematopoiesis and area percentage of α-SMA (α-smooth muscle actin) expression was correlated with jaundice clearance after KPE using standard statistical tests. Native liver survival was computed. Results: Overall, 13 (43%) children cleared jaundice in this series and 10 (33%) are alive with native liver. Lower area percent expression of α-SMA correlated with increased probability of jaundice clearance after KPE (P < 0.001). There was no correlation between stage of fibrosis and jaundice clearance (P = 0.52). DPM, giant cell transformation and extramedullary hematopoiesis did not correlate with outcome. All children who are alive with native liver had lower expression of α-SMA. Conclusion: α-SMA expression may be a potential predictor of jaundice clearance and native liver survival after KPE. [ABSTRACT FROM AUTHOR]

Primary tuberculosis (TB) of the graft presenting as multiple liver abscesses is previously unreported. A 14‐month‐old male child in the early post liver transplant (LT) period presented with high‐grade fever spikes and on evaluation was found to have multiple pyogenic liver abscesses (PLA) in the CT abdomen. His fever was not responding to intravenous antibiotics and liver biopsy was done which showed numerous acid fast bacilli. Genetic analysis confirmed the bacilli as Mycobacterium tuberculosis (MTB). Timely diagnosis and prompt introduction of antituberculosis therapy were lifesaving. [ABSTRACT FROM AUTHOR]

Intracranial epidermoids are generally seen as hypodense nonenhancing lesions on computed tomography scans; and, as T1 hypointense and T2 hyperintense lesions on magnetic resonance imaging (MRI). Unusual radiological findings have been reported earlier. The authors present the case of a 54-year old male patient who had prior intracranial surgery. On MRI, there was a thick peripheral mantle of diffusion restriction with a central core of brilliant T1 hyperintensity and very black T2 hypointensity. The peripheral mantle showing diffusion restriction was heterogeneously T1 hypointense and T2 hyperintense. At surgery, there was a typical pearly white epidermoid peripherally with a greenish-brown centre. Pathology showed abundant extracellular melanin which was also found in the basal layer. The authors present the first case of a melanin pigmented intracranial epidermoid in literature, describing a new histological subtype. [ABSTRACT FROM AUTHOR]

The differentiation of a cluster of nuclei and multi-nucleation is a critical issue in automated diagnosis systems. Due to the similarities between said clusters and malignant nuclei, misclassification of these regions can affect the automated systems' final decision. In this paper, a method for differentiating clusters from multi nucleated cells in histopathological images is proposed. Hepatocellular Carcinoma(HCC) and Dysplasia are characterized by cellular and nuclear enlargement, nuclear pleomorphism and multinucleation, which possess prominent threat Data was obtained from Global Hospital and Research Center from patients diagnosed with Hepatocellular Carcinoma and Dysplasia. This paper introduces a hybrid diagnosis method that uses texture, layout and context features of nuclei and cytoplastic cells in order to enhance the poor diagnosis of liver tumors in Infra Red (IR) images. We propose a Area based Adaptive Expectation Maximization(EM) that grows the clusters, which avoids the need for initial cluster selection in order to obtain texton maps of nuclei and cytoplasm. A linear regression model of nuclei and cytoplastic changes were built by incorporating the aforementioned features efficiently. The proposed method provides better classification and segmentation accuracy of nuclei and extra nuclear content in HCC and dysplasia, compared to the state-of-the-art methods like convolutional networks and classical methods like Adaptive K means and EM method in constant time. In conclusion, this system detects the malignant cells and the highly eligible precancerous cells which is cost effective and reproducible. [ABSTRACT FROM AUTHOR]

Background: The histological nature of polyps by site prevalence and size is unclear. Aim: To determine the prevalence of polyps in patients undergoing routine lower gastrointestinal (LGI) endoscopy and identify the histological types and their characteristics by age, location and size. Materials and Methods: For this retrospective study, patients undergoing ileocolonoscopy or sigmoidoscopy between 2014 and 2016 were included. Data on age, gender, test indication, site and size of polyps and histology type were collected. Results: Two hundred and ninety (12.7%) of 2303 patients who underwent LGI endoscopy had colonic polyps (n= 317; single in 272 patients). The median age was 61.1 years (range 5-99 years) and 223 (76.4%) were men. Polyps were rare <40 years age (7.3%). By site, the polyp frequency in right colon was 6.9%, 3.9% in left colon and 4.6% in the rectum. Two thirds of polyps (64%) were <1cm size. The 3 common polyp types were adenomatous (48.9%), hyperplastic (23.7%), and inflammatory (22.4%). Adenomatous polyps were common above 60 years (p <0.0002), located often in right (35.5%) or left colon (42.6%), large in size (54.2%) and showed low grade dysplasia (89.7%). Hyperplastic polyps were most common in the middle aged and in the rectum (p <0.00001). Inflammatory polyps were the most common type below 40 years age. Almost all hyperplastic and inflammatory polyps were <1cm size (93.3% and 87.3%). Conclusions: Adenomatous polyps were the commonest type; especially >60 years age. High grade dysplasia and carcinoma were rare (10.3%). While two-thirds of polyps <1cm size were inflammatory or hyperplastic, 86% of large polyps were adenomatous. [ABSTRACT FROM AUTHOR]

MDR3 is a hepatocyte canalicular membrane protein encoded by the ABCB4 gene located on chromosome 7. MDR3 mediates the translocation of phosphatidylcholine into bile. Severe MDR 3 deficiency typically presents during early childhood with chronic cholestasis evolving to cirrhosis and portal hypertension, requiring liver transplantation. Herein, we report a case of severe MDR3 deficiency in a male child diagnosed with negative MDR3 immunostaining in hepatic canaliculi who underwent LDLT at our centre. We also describe single incidentally detected early well-differentiated HCC in the explant liver. The patient is on regular follow-up and is doing well. Our report shows that MDR3 deficiency may be a risk factor for the development of HCC. [ABSTRACT FROM AUTHOR]

HCC is the second most common malignant liver tumor of childhood. It typically affects children with a median age of 10-14 yr on background hepatitis B-related liver disease and is often metastatic or locally advanced at diagnosis. Children below the age of five yr typically constitute <10% of all children with HCC. In these children, it occurs on a background of congenital or metabolic liver disease. The records of all children with HCC who presented to our department over a six-yr study period were reviewed. Twelve patients with a median age of 5.9 yr (range 1.6-15.4) were diagnosed to have HCC. All patients underwent liver transplantation, and none were resected. Eleven patients had background congenital or metabolic liver disease. All five of those with hereditary tyrosinemia type 1 who presented to us were found to have HCC. No patient had hepatitis B-related liver ( HBV) disease. Eight (66.7%) patients had incidentally discovered HCC on examination of the explant. Incidentally discovered HCC were smaller, well differentiated, and did not show microvascular invasion compared to those diagnosed preoperatively. There was no recurrence with a median follow-up of five months. The patient demographic for pediatric HCC is changing probably as a consequence of successful immunization against HBV. Younger patients with congenital and metabolic liver disease in whom liver transplantation is the ideal treatment are likely to constitute an ever-increasing proportion of patients with pediatric HCC as HBV disease is controlled or eradicated. [ABSTRACT FROM AUTHOR]

Aims: In 1955, Professor Morio Kasai first performed a hepatic portoenterostomy. Since then, the procedure has changed the lives of children with biliary atresia (BA). We report our initial experience in performing “extended” Kasai portoenterostomy (KPE), a modification of the original procedure. Materials and Methods: Since 2013, we have used the technique of “extended KPE” and prospectively recorded data on all children undergoing this operation. Data on demographics, clinical features, liver function tests, and perioperative cholangiogram findings were collected. Outcome of KPE was measured by Jaundice Disappearance Rate (JDR) and Native Liver Survival Rate (NLSR). We present our preliminary results from a 30-month period (February 2013 to May 2015). Results: Thirty-one children underwent KPE during this period (19 males) and only 1 child had biliary atresia splenic malformation (BASM). The mean age at KPE was 73 ± 24 days. Five (16.1%) children were more than 90 days old at the time of KPE. Fourteen children cleared jaundice (JDR 45.2%). Eleven (35.5%) children developed episodes of cholangitis, of whom 8 had early cholangitis (within 3 months of the operation). The proportion of children who survived with their own liver 6 months after KPE (NLSR) was 84.2%. Of those children older than 90 days, 2 cleared jaundice and have survived with their native livers for more than 16 months. Conclusion: In our preliminary report of 31 children, we conclude that the extended KPE leads to increased jaundice clearance and improved NLSR in children with BA. [ABSTRACT FROM AUTHOR]

Purpose: Ductal plate malformation (DPM) like arrays in the liver which resemble the characteristic persistent embryonal ductular structures have been shown to adversely affect the outcome of Kasai portoenterostomy (KPE) in biliary atresia (BA). We studied the impact of DPM on survival with native liver (SNL) in children with BA who underwent liver transplantation (LT) after KPE as well as those who underwent primary LT without KPE. Methods: Records of children with BA who underwent LT in our institute were reviewed and divided into three groups-Group 1 had primary LT because of delayed diagnosis of BA and synthetic liver failure, Group 2 had LT for synthetic liver failure after a failed KPE, and Group 3 had LT despite clearing jaundice after KPE for other indications. The impact of DPM on SNL was analyzed using standard statistical means. Results: In Group 1 ( n = 26) and Group 2 ( n = 26), the incidence of DPM was high and was associated with a significantly shorter SNL compared to children with no DPM. The incidence of DPM was significantly lower in Group 3 ( n = 13). Conclusion: DPM shortens SNL and influences the pathogenesis of disease progression in children with BA who had synthetic liver failure requiring transplantation either because of a failed KPE or due to a delay in diagnosis. Its incidence is low in children who cleared jaundice after KPE and needed transplantation for other indications at a later age. The presence of DPM signifies an adverse outcome for the disease. [ABSTRACT FROM AUTHOR]

Langerhans cell histiocytosis (LCH) is a multisystem disorder involving various organs. Nail changes in LCH are extremely rare. We present this case report of extensive nail changes in an 18-month-old child with multisystem LCH. [ABSTRACT FROM AUTHOR]