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Introduction: Tyrosinemia type 1 is a rare disease with autosomal recessive inheritance, featuring various clinical manifestations. These may encompass acute neonatal liver failure, neonatal cholestatic syndrome, chronic hepatitis, cirrhosis, hepatocellular carcinoma, and, alternatively, kidney disorders like renal tubular acidosis, Fanconi syndrome, hypophosphatemic rickets, among other alterations. Diagnosis relies on detecting toxic metabolites in the blood and urine, ideally confirmed through molecular testing., Method: A consensus was reached with experts in the field of inborn errors of metabolism (EIM), including eight pediatric gastroenterologists, two EIM specialists, two geneticists, three pediatric nutritionists specialized in EIM, and a pediatric surgeon specializing in transplants. Six working groups were tasked with formulating statements and justifications, and 32 statements were anonymously voted on using the Likert scale and the Delphi method. The first virtual vote achieved an 80% consensus, with the remaining 20% determined in person., Results: The statements were categorized into epidemiology, clinical presentation, diagnosis, nutritional and medical treatment, and genetic counseling., Conclusions: This consensus serves as a valuable tool for primary care physicians, pediatricians, and pediatric gastroenterologists, aiding in the prompt diagnosis and treatment of this disease. Its impact on the morbidity and mortality of patients with tyrosinemia type 1 is substantial., (Copyright: © 2024 Permanyer.)

Acute-on chronic liver failure (ACLF) has been an intensively debated topic mainly due to the lack of a unified definition and diagnostic criteria. The growing number of publications describing the mechanisms of ACLF development, the progression of the disease, outcomes and treatment has contributed to a better understanding of the disease, however, it has also sparked the debate about this condition. As an attempt to provide medical professionals with a more uniform definition that could be applied to our population, the first Mexican consensus was performed by a panel of experts in the area of hepatology in Mexico. We used the most relevant and impactful publications along with the clinical and research experience of the consensus participants. The consensus was led by 4 coordinators who provided the most relevant bibliography by doing an exhaustive search on the topic. The entire bibliography was made available to the members of the consensus for consultation at any time during the process and six working groups were formed to develop the following sections: 1.- Generalities, definitions, and criteria, 2.- Pathophysiology of cirrhosis, 3.- Genetics in ACLF, 4.- Clinical manifestations, 5.- Liver transplantation in ACLF, 6.- Other treatments., Competing Interests: Declaration of interests None., (Published by Elsevier España, S.L.U.)

Background: Bile duct atresia (BVA) is a condition that causes obstruction to biliary flow, not corrected surgically, causes cirrhosis and death before 2 years of age. In Mexico from 2013 the visual colorimetric card (VVC) was incorporated for the timely detection of BVA to the National Health Card (NHC). The aim of this study was to evaluate the impact of VCT for the detection of BVA before and after the use of NHC incorporation., Methods: Ambispective, analytical observational study. We included patients with AVB treated in two pediatric hospitals of third level care. We compared the age of reference, diagnosis and surgery before and after incorporation of the TCV. In addition, a questionnaire was made to the parents to know their perception about the TCV., Results: In 59 children, there were no differences in age at diagnosis (75 vs 70 days) and age at surgery (84 vs 90 days) between the pre and post-implementation period of the VVC. The questionnaire showed that 10 (30%) of the parents received information about the use of the VVC and 13 (38%) identified the abnormal evacuations., Conclusions: This study did not show changes in time for the timely detection of BVA by using VVC. Therefore, it is necessary to reinforce the program in the three levels of care in our country., (Copyright: © 2018 Permanyer.)

Background: The biliary atresia (BA) is the end result of a destructive and idiopathic inflammatory process affecting the intrahepatic and extrahepatic bile ducts, leading to fibrosis and biliary cirrhosis. The objective was to identify factors associated with mortality in children with BA., Methods: Observational, longitudinal, analytical and retrospective study carried out in patients with biliary atresia treated between 2008 and 2012 in a tertiary care hospital from the Instituto Mexicano del Seguro Social., Results: A total of 66 patients with BA; 49 were girls (74.2 %), 47 underwent hepatic portoenterostomy (or Kasai procedure: KP), the age at delivery was 4.5 months. When comparing the groups with and without KP, the lower age at the time of delivery, the age of diagnosis, a lower score on the PELD score and the Child-Pugh for the group with Kasai were statistically significant. Patients who died had a PELD score statistically higher (median 20) than those who lived (median 13), p = 0.004. The factor directly related with the mortality was the history of KP with an OR of 0.17 (95 % CI 0.04-0.71, p = 0.016)., Conclusions: The prognosis of children with BA remains gloomy because they are diagnosed in late stages. The most important factor associated with mortality in these patients is to perform KP.

Cow's milk allergy (CMA) is an immune-based disease that has become an increasing problem. The diagnosis and management of CMA varies from one clinical setting to another and represents a challenge in pediatric practice. In addition, because nonallergic food reactions can be confused with CMA symptoms, there is an overdiagnosis of the disease. In response to these situations, pediatric specialties from recognized institutions throughout Latin America decided to develop a clinical guideline for diagnosis and management of cow's milk allergy. These guidelines include definitions, epidemiology, pathophysiology overview, clinical and evidencebased recommendations for the diagnosis and treatment of CMA. They also include prevention and prognosis sections and identify gaps in the current knowledge to be addressed through future research.

Background: Biliary lithiasis is a disease that is rarely diagnosed in children; in Mexico, its prevalence is less than 1 %. Due to the scarcity of investigations addressing epidemiology and surgical outcomes in pediatric patients, our purpose was to establish the epidemiology and post-operative course in children with biliary lithiasis., Methods: A descriptive, cross-sectional study was conducted. All patients with a diagnosis of biliary lithiasis treated over a 6-year period with complete data in their medical records were included., Results: Thirty children with biliary lithiasis with a mean of 12.5 years of age were analyzed; 66.7 % were female and 63 % were older than 11 years. Etiology was idiopathic in 93 %. The most important symptoms were abdominal pain, nausea and vomiting (77 %). 100% of the patients were diagnosed with ultrasonography. Laparoscopic cholecystectomy was performed in 60 % of the cases and no differences were observed in terms of complications compared with open surgery. The advantage for laparoscopic cholecystectomy was a reduced fasting and hospitalization time., Conclusions: Biliary lithiasis occurs more frequently in adolescent females, hemolytic causes are rare and in most cases no cause was identified. More epidemiological studies are needed in order to understand the natural history of the disease in children.

Background: Although gastrointestinal tract bleeding can occur at any age, most studies trying to establish causes or risk factors for its development have been conducted in adults. The aim of this study was to determine risk factors in children admitted in a pediatric intensive care unit., Methods: A retrospective case-control study was conducted. Children who developed upper gastrointestinal bleeding children during their stay at the intensive care unit were considered the cases. Variables were obtained from medical records including age, sex, nutritional status, mechanical ventilation, use of nasogastric tube, development of complications, presence of coagulopathy, use of prophylaxis for upper gastrointestinal tract bleeding, fasting and use of steroids. Using a multivariate analysis, risk factors were identified, with odds ratios (OR) and 95 % confidence intervals (95 % CI) calculations., Results: Out of 165 patients, 58 had upper gastrointestinal bleeding (35 %). Risk factors identified were prolonged clotting times (OR = 3.35), thrombocytopenia (OR = 2.39), development of sepsis (OR = 6.74) or pneumonia (OR = 4.37). Prophylaxis for upper gastrointestinal bleeding was not a protective factor., Conclusions: Upper gastrointestinal bleeding frequency in children hospitalized in an intensive care unit was high. Identifying risk factors should help to reduce upper gastrointestinal bleeding frequency.

Introduction: Extrahepatic portal vein obstruction is an important cause of portal hypertension among children. The etiology is heterogeneous and there are few evidences related to the optimal treatment., Aim and Methods: To establish guidelines for the diagnosis and treatment of EHPVO in children, a group of gastroenterologists and pediatric surgery experts reviewed and analyzed data reported in the literature and issued evidence-based recommendations., Results: Pediatric EHPVO is idiopathic in most of the cases. Digestive hemorrhage and/or hypersplenism are the main symptoms. Doppler ultrasound is a non-invasive technique with a high degree of accuracy for the diagnosis. Morbidity is related to variceal bleeding, recurrent thrombosis, portal biliopathy and hypersplenism. Endoscopic therapy is effective in controlling acute variceal hemorrhage and it seems that vasoactive drug therapy can be helpful. For primary prophylaxis of variceal bleeding, there are insufficient data for the use of beta blockers or endoscopic therapy. For secondary prophylaxis, sclerotherapy or variceal band ligation is effective; there is scare evidence to recommend beta-blockers. Surgery shunt is indicated in children with variceal bleeding who fail endoscopic therapy and for symptomatic hypersplenism; spleno-renal or meso-ilio-cava shunting is the alternative when Mesorex bypass is not feasible due to anatomic problems or in centers with no experience., Conclusions: Prospective control studies are required for a better knowledge of the natural history of EHPVO, etiology identification including prothrombotic states, efficacy of beta-blockers and comparison with endoscopic therapy on primary and secondary prophylaxis., (Copyright © 2013 Fundación Clínica Médica Sur, A.C. Published by Elsevier España, S.L.U. All rights reserved.)

Introduction: Identifying liver fibrosis is important to evaluate the severity of liver damage and to establish a prognosis. Utility of non-invasive markers of liver fibrosis has been proved in adults but there are few reports in children. The aim of this study was to evaluate Fibrotest® score and APRI suitability to identify children with liver fibrosis., Material and Methods: 68 children with chronic liver disease requiring liver biopsy were prospectively included from three 3rd-level pediatric hospitals. The same pathologist evaluated all liver biopsies; fibrosis degree was determined by METAVIR score. Serum samples were obtained to determine Fibrotest® and APRI. AUROC were used to determine cut-off and differentiate between advanced fibrosis (METAVIR F3, F4) and no fibrosis (F0)., Results: 68 biopsies were evaluated; METAVIR > F3 was identified in 26 (38%). Non invasive liver fibrosis markers to differentiate between advanced and no fibrosis were: Fibrotest® AUROC = 0.90 (95% CI 0.77-1.00) (cut-off value 0.35) sensitivity 88.00% (95% CI 68-96) and specificity 80% (95% CI 29-98); and for APRI AUROC = 0.97 (95% CI 0.92-1.00) (cut-off value 0.82), sensitivity 88% (95% CI 68-96) and specificity = 100% (95% CI 46-100)., Conclusion: These results suggest the utility of Fibrotest® and APRI to identify advanced fibrosis; they can be recommended to select patients for liver biopsy and during patient follow-up.

Background: L-asparaginase (L-asp) is used as part of the initial treatment in children with acute lymphoblastic leukemia (ALL), inducing remission in 83% to 95% of the treated patients. Major toxicity effects reported are hypersensitivity reactions and dysfunctions of the liver and pancreas. Acute pancreatitis (AP) induced by L-asp has been noted in 2.5% to 16% of the treated patients. The purpose of this study was to determine the frequency and outcome of AP in children with ALL treated with L-asp in a tertiary care pediatric hospital., Methods: From January 1999 to June 2005, the charts of children with ALL admitted for L-asp treatment were reviewed. Data from children who developed AP were analyzed retrospectively. AP was defined as the presence of clinical data (nausea, vomiting, and abdominal pain), elevated pancreatic enzymes, and changes in the abdominal ultrasound and/or computed tomography (CT) scan. Clinical and biochemical data, abdominal ultrasound, and CT scan findings, complications, treatment, and outcome were analyzed retrospectively., Results: During the last 6 years, 266 ALL new cases were started on chemotherapy including L-asp, of which 18 of 266 (6.7%) developed AP. Pancreatic necrosis by CT scan was found in 10 patients, peripancreatic collections and pseudocyst formation were detected in 5 and 3 cases, respectively, and resolved by cystogastrostomy or drainage. Two patients developed chronic pancreatitis and 3 diabetes. There was no relationship between number of doses and pancreatic toxicity. None of the patient died due to pancreatic toxicity., Conclusions: L-asp is an effective drug to treat ALL, the administration of L-asp requires the monitoring of pancreatic toxicity to detect AP and have treatment initiated as early as possible. Chronic complications after AP occur in almost one third of cases.

Background: Elevated ALT is an indirect marker of NAFLD in patients with non-alcohol abuse and without other known causes of chronic hepatitis. Obesity, type 2 diabetes and some dyslipidemias are associated to this condition. The purpose of this study was to determine the frequency of increased aminotransferases and associated metabolic anomalies among overweight and obese children., Methods: Children from an elementary school with obesity or overweight were included. Medical history and anthropometrics measurements were recorded and serum liver function tests, lipid profile, glucose and insulin levels, and HOMA index were determined. NAFLD diagnosis was considered in those children with ALT>40 U/L and AST/ALT ratio<1 after exclusion of other causes of chronic hepatitis., Results: Increase ALT levels (>40 U/L) were found in 34/ 80 (42%) obese and overweight children; mean age was 9.5+/-1.1 years and mean BMI of 25.8+/-3. The metabolic abnormalities in the study group were similar, there were no differences in insulin concentration, insulin resistance determined by HOMA-IR Index, serum lipid profile and serum glucose between children with or without increased ALT., Conclusions: The frequency (42%) of elevated ALT levels in children with excess body weight in this study was greater to those reported in other pediatric populations. There were no differences among the metabolic alterations with or without increased ALT; these findings support that the principal pathogenic factor involved in the development of the hepatic injury may be located in the liver.

Four children with arteriovenous malformation were studied during a two year period (1989-1991). The main localization of these arteriovenous malformations were: sigmoid rectum, ascending colon, terminal ileum and apoendix. The diagnosis was made with colonoscopy and arteriography. The surgical resection was the procedure of choice.

This is the case of a 15 year old adolescent girl who refers recurrent chronic abdominal pain for a period of three months. She was diagnosed as having a chronic pancreatic pseudocyst, seen as a complication of an episode of hemorrhage acute pancreatitis secondary to the administration of L-asparaginase for the treatment of acute lymphoblastic leukemia. The abdominal ultrasonography allowed for a pre-operatory diagnosis to be made. An internal drainage and a cystogastrostomy were the procedures of choice. A review of the literature is included on the physiopathology, clinical history, diagnostic procedures and therapeutic conduct to be followed.

This report includes two cases of omental cysts, with detailed clinical and radiological findings. The main clinical finding in these patients was a massive cystic growth, producing an increase in abdominal volume undistinguishable from ascites. In both cases the preoperative diagnosis was done using abdominal ultrasonography. Although omental cysts are infrequent, it should be thought of as a possibility in the differential diagnosis in children with intraabdominal fluid. Omental cysts; intraabdominal cystic masses; abdominal ultrasound.

A case of a three year old child with an angiodysplasia (arterial venous malformation) localized in the sigmoidal rectum is reported. The malformation caused chronic recurrent rectal hemorrhaging. Colonoscopy was the procedure used to diagnose the problem which was later corroborated by arteriography. The affected area was removed.