Diagnosis and management of pediatric acute liver failure: consensus recommendations of the Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition (ISPGHAN).

Timely diagnosis and management of pediatric acute liver failure (PALF) is of paramount importance to improve survival. The Indian Society of Pediatric Gastroenterology, Hepatology, and Nutrition invited national and international experts to identify and review important management and research questions. These covered the definition, age appropriate stepwise workup for the etiology, non-invasive diagnosis and management of cerebral edema, prognostic scores, criteria for listing for liver transplantation (LT) and bridging therapies in PALF.

Hepatoblastoma in a cirrhotic child with Alagille syndrome.

Alagille syndrome (AGS) is a genetic disorder due to mutations in the or genes leading to multisystemic manifestations. Though these patients are at risk of developing various liver tumours, no cases of hepatoblastoma among young children with cirrhosis in AGS have been reported. We report a male toddler, with cirrhosis due to AGS who developed a hepatoblastoma.

Understanding the living-related pediatric liver transplantation donor's decision process: A questionnaire-based retrospective study.

Objectives: To analyse the donor characteristics and understand the sociocultural and familial aspects of the decision to donate for living donor liver transplant.

Methods: This is a retrospective study done in the Department of Pediatric Gastroenterology and Hepatology of a liver transplant centre. We enrolled the consenting donors of pediatric liver transplantation between January 2020 and January 2022.

Efficacy of therapeutic plasma exchange in pediatric cases of acute liver failure as an extracorporeal liver support system.

Background: Acute liver failure in the pediatric population is often accompanied by deranged metabolism, severe encephalopathy and coagulopathy. A liver transplant is the most viable option for the management of such patients. Therapeutic plasma exchange (TPE) is helpful in improving the liver biochemistry profile, thereby, increasing their likelihood of undergoing a liver transplant METHOD: The study was conducted over a period of 3 years (January 2018 to December 2021).

Functional constipation: A common and often overlooked cause for abdominal pain in children.

The most common causes for chronic pain abdomen in pediatric practice are functional abdominal pain disorders, a subgroup of functional gastrointestinal disorders under the Rome IV classification. Constipation is usually associated with painful defecation, but abdominal pain as a predominant or presenting symptom of functional constipation (FC) is not very well recognized. We conducted this study to ascertain the prevalence of FC in chronic pain abdomen and proportion of FC children presenting with predominant complaints of pain abdomen.

Clinical Profile of Acute Pancreatitis in Children and Adolescents from a Single Center in Northern India.

Introduction: There has been an increase in incidence of pancreatitis in children all over the world; studies in developed countries shown multiple etiological factors such as drugs, infections, trauma, anatomic abnormalities, and/or genetic pancreatitis in children; however, there are sparse data from the developing countries. This study was undertaken to determine the characteristics of Indian children with acute pancreatitis (AP), mainly the clinical features, etiology, complication, association, genetic factors, and outcome and recurrence.

Methods: We performed a retrospective study of all patients under the age of 18 years, who had a final diagnosis of pancreatitis admitted at our center between 2017 and 2019.

Enteric fever masquerading as Crohn's disease in a child with abdominal tuberculosis.

In tropical countries, like India, various types of infectious diseases like tuberculosis, enteric fever, malaria and dengue are prevalent. Disease trend over time has been gradually shifting from infective to inflammatory frame because of increasing awareness regarding hygiene and increasing immunisation coverage. This case report describes an adolescent boy having a long history of abdominal pain, bleeding per rectum and documented weight loss, presented with an acute episode of fever.

Novel mutation in the HSD3B7 gene causes bile acid synthetic disorder and presents as recurrent liver failure in early childhood.

Bile acid synthetic disorders are rare inborn errors of metabolism, and presentations include neonatal cholestasis, neurological disease or deficiency of fat-soluble vitamins. Affected patients fail to produce standard bile acids but accumulate unusual bile acids and intermediates, resulting in liver failure and complications. Most of them improve with bile acid supplementation, but delaying initiating treatment is detrimental to the outcome.

Pediatric liver transplantation for autoimmune liver disease: Ten-year experience from a liver transplant center in India.

Liver transplantation (LT) has emerged as the best therapeutic modality for end-stage liver disease in pediatric autoimmune liver disease (AILD). We aimed to describe our experience of pediatric living donor liver transplantation for AILD from India over a period of 10 years. We did a retrospective analysis of 244 liver transplants at our center over the last 10 years to identify children with AILD (18 years or younger).

Intraoperative portal vein stenting through umbilical vein approach: An innovative salvage procedure for portal vein thrombosis in pediatric liver transplant.

Background: IPVS is considered a last resort or a salvage procedure in the event of recurrent PV thrombosis despite multiple attempts at redo PV anastomosis. We employed the opened umbilical vein approach to place the stent in the PV and deliver anticoagulation through a catheter.

Materials And Methods: From Jan 2017 to Feb 2022, 150 patients underwent pediatric transplantation at department of liver transplant and hepatobiliary surgery unit, Indraprastha Apollo hospitals, New Delhi.

Acute Liver Failure in Dengue: A Common but Overlooked Entity in Pediatric Patients in Tropical Countries.

Objective: The objective of the study is to estimate the incidence of acute liver failure (ALF) in dengue infection, understand the demographic and biochemical profiles, and identify prognostic factors associated with mortality.

Methodology: This is a retrospective observational study. We evaluated the data of all pediatric dengue patients admitted over the last 5 years in our hospital to identify patients who fulfilled the criteria for pediatric ALF.

Rare case of primary carnitine deficiency presenting as acute liver failure.

Systemic primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the gene that encodes carnitine transporter, OCTN2. Transporter deficiency leads to defective fatty acid oxidation. Signs and symptoms ranging from liver injury in children to cardiomyopathy and skeletal myopathy in adults, manifest during periods of stress and fasting.

Novel mutation causing congenital disorder of glycosylation in a child with recurrent anasarca.

Protein-losing enteropathy entails an excessive loss of proteins in intestinal tract due to underlying primary or secondary pathologies. It is suspected in patients with chronic diarrhoea and peripheral oedema. Faecal alpha 1 antitrypsin clearance is the gold standard for diagnosis.

Progressive Familial Intrahepatic Cholestasis: A Study in Children From a Liver Transplant Center in India.

Background/aims: This study aimed to delineate the clinical profile of children diagnosed with progressive familial intrahepatic cholestasis (PFIC).

Methods: This study was a retrospective analysis of case records of children in the tertiary care hospital, with the diagnosis of PFIC from January 2017 to January 2020. The diagnosis was made using clinical and laboratory parameters and with genetic testing when available.

Prolonged Cholestatic Jaundice Associated with Carnitine Palmitoyltransferase IA Deficiency.

Carnitine palmitoyltransferase 1A (CPT1A) deficiency is a type of fatty acid oxidation disorder in which long chain fatty acids cannot be transported into mitochondria for further processing and storage in our body. Typically, the patients present with lethargy, hypoglycemia, and raised serum transaminase levels before 2 years of age. Cholestatic jaundice as manifestation of this deficiency has been reported rarely; here, we report an adolescent male with CPT1A deficiency who developed prolonged cholestatic jaundice following a febrile illness.

Transient infantile hypertriglyceridaemia due to homozygous mutation in GPD1 presenting in childhood with hepatic adenoma.

Hypertriglyceridaemia in infancy is usually secondary to underlying metabolic disorder which usually has a genetic basis unlike the adult population. One such recently described entity is transient infantile hypertriglyceridaemia (HTGTI). In this disorder, mutation in glycerol-3-phosphate (G3P) dehydrogenase gene leads to deficiency of G3P dehydrogenase resulting in hypertriglyceridaemia and hepatomegaly.

Complicated Pylephlebitis Secondary to Perforated Appendicitis in an Adolescent.

Septic thrombophlebitis of the portal vein or pylephlebitis is a rare cause of morbidity and mortality in children. The common causes include infective intra-abdominal pathology (acute appendicitis or diverticulitis) or inflammatory conditions (acute pancreatitis and inflammatory bowel disease). Management involves a multidisciplinary team approach for favorable outcome.

Novel Mutation of Tyrosinemia in a Child With Hypophosphatemic Rickets.

Tyrosinemia is an inherited metabolic disease of fumarylacetoacetate enzyme. A male infant presented to us with clinical features of rickets, floppiness, and a deranged coagulation profile. A novel mutation causing Tyrosinemia was discovered on the basis of genetic sequencing.

Esophageal Stricture and Dermal Pathology Related to Compound Heterozygous Mutations in the Gene.

The Ehlers-Danlos' syndrome (EDS) constitutes a group of connective tissue disorders that are clinically and genetically heterogeneous. Mutations in the gene have been recognized as pathogenic causing classical-like EDS due to tenascin-X deficiency. Here, we have reported a unique case of compound heterozygous mutation in gene leading to esophageal stricture and scarred skin in a 7-year-old boy who presented to us with impacted foreign body in esophagus.

Pediatric Liver Transplantation in India: 22 Years and Counting.

Liver transplantation in India has grown exponentially in the last decade with 135 centers now performing between 1500-2000 transplants a year, 10% of which are pediatric. Survival rate surpassing 90% has been achieved, and India is now an important regional liver transplant hub in South and South-East Asia. The indications have expanded to include increasing number of liver-based metabolic disorders that may or may not cause liver disease.

Paediatric inflammatory bowel disease in India: a prospective multicentre study.

Background: Paediatric inflammatory bowel disease (PIBD) is increasing across the world. However, information from India is sparse. This multicentre study evaluated the demographics, clinical phenotype and outcome of PIBD from India.

Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation.

A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzymes with normal gamma-glutamyl transferase (GGT).

Celiac disease: What the Indian pediatricians know about the disease.

To ascertain the knowledge, awareness, and practices pertaining to celiac disease (CD) among the Indian pediatricians. A survey link containing a questionnaire was shared through electronic mail using a pediatric database. The survey was kept active for 6 months; all responses received at the end of the survey were analyzed.

Living Related Liver Transplantation for Biliary Atresia in the Last 5 years: Experience from the First Liver Transplant Program in India.

Objective: To study the clinical, biochemical profile and outcome of patients with biliary atresia (BA) who underwent living related liver transplantation (LRLT) at authors' institute in the last 5 y (2008-2013).

Methods: Case records of the 20 patients diagnosed with biliary atresia who had undergone living related liver transplantation at authors' centre in the last 5 y were analysed.

Results: Eighteen patients with BA with a failed Kasai procedure and 2 without a prior Kasai's portoenterostomy received a liver transplant.