RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.

Pediatric acute liver failure (ALF) is life threatening with genetic, immunologic, and environmental etiologies. Approximately half of all cases remain unexplained. Recurrent ALF (RALF) in infants describes repeated episodes of severe liver injury with recovery of hepatic function between crises.

Gamma Glutamyltransferase Reduction Is Associated With Favorable Outcomes in Pediatric Primary Sclerosing Cholangitis.

Adverse clinical events in primary sclerosing cholangitis (PSC) happen too slowly to capture during clinical trials. Surrogate endpoints are needed, but no such validated endpoints exist for children with PSC. We evaluated the association between gamma glutamyltransferase (GGT) reduction and long-term outcomes in pediatric PSC patients.

Understanding the evolving phenotype of vascular complications in telomere biology disorders.

Vascular complications such as bleeding due to gastrointestinal telangiectatic anomalies, pulmonary arteriovenous malformations, hepatopulmonary syndrome, and retinal vessel abnormalities are being reported in patients with telomere biology disorders (TBDs) more frequently than previously described. The international clinical care consortium of telomere-associated ailments and family support group Dyskeratosis Congenita Outreach, Inc. held a workshop on vascular abnormalities in the TBDs at the National Cancer Institute in October 2017.

The natural history of primary sclerosing cholangitis in 781 children: A multicenter, international collaboration.

Unlabelled: There are limited data on the natural history of primary sclerosing cholangitis (PSC) in children. We aimed to describe the disease characteristics and long-term outcomes of pediatric PSC. We retrospectively collected all pediatric PSC cases from 36 participating institutions and conducted a survival analysis from the date of PSC diagnosis to dates of diagnosis of portal hypertensive or biliary complications, cholangiocarcinoma, liver transplantation, or death.

Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma.

Tyrosinemia type I (TYRSN1, TYR I) is caused by fumarylacetoacetate hydrolase (FAH) deficiency and affects approximately one in 100,000 individuals worldwide. Pathogenic variants in FAH cause TYRSN1, which induces cirrhosis and can progress to hepatocellular carcinoma (HCC). TYRSN1 is characterized by the production of a pathognomonic metabolite, succinylacetone (SUAC) and is included in the Recommended Uniform Screening Panel for newborns.

A novel GBE1 gene variant in a child with glycogen storage disease type IV.

Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different mutations in the glycogen branching enzyme gene (GBE1) have been described. In this study, we report a 2-year-old boy who presented with developmental delay and muscle weakness.

Ileal pouch anal anastomosis in pediatric familial adenomatous polyposis: a 24-year review of operative technique and patient outcomes.

Background: Total proctocolectomy with ileal pouch anal anastomosis (IPAA) is the operative procedure of choice for familial adenomatous polyposis (FAP) patients. We review 24years of operative experience and outcomes in pediatric patients with FAP.

Methods: Patients with FAP, age<20years, presenting to a single institution between 1987 and 2011 were included.

Prospective Clinical Trial of Rifaximin Therapy for Patients With Primary Sclerosing Cholangitis.

Primary sclerosing cholangitis (PSC) is a rare, chronic, cholestatic liver disease in which emerging data suggest that oral antibiotics may offer therapeutic effects. We enrolled patients with PSC in a 12-week, open-label pilot study to investigate the efficacy and safety of 550 mg of oral rifaximin twice daily. The primary end point was serum alkaline phosphatase (ALK) at 12 weeks.

The natural history of familial adenomatous polyposis syndrome: a 24 year review of a single center experience in screening, diagnosis, and outcomes.

Purpose: Understanding the natural history of Familial Adenomatous Polyposis (FAP) will guide screening and aid clinical management.

Methods: Patients with FAP, age ≤20years presenting between 1987 and 2011, were reviewed for presentation, diagnosis, extraintestinal manifestations, polyp burden, family history, histology, gene mutation, surgical intervention, and outcome.

Results: One hundred sixty-three FAP patients were identified.

Wandering spleen as a cause of mesenteric and portal varices: a new etiology?

Wandering spleen is a rare clinical entity characterized by spleen hypermobility due to lack or weakness of one or more splenic ligaments. We report two patients with the diagnosis of wandering spleen with portal and mesenteric varices. A 16 year-old girl presented with abdominal pain, an abdominal mass and pancytopenia.

Pediatric MR elastography of hepatic fibrosis: principles, technique and early clinical experience.

Numerous pediatric conditions result in hepatic fibrosis. As treatments develop for the underlying disorders, a non-invasive assessment of liver fibrosis would be beneficial as an adjunct or possible replacement for the traditional gold standard, liver biopsy. Magnetic resonance elastography is a noninvasive imaging technique that has been used successfully in adults for identification and assessment of liver fibrosis.

Feasibility and application of 3-dimensional ultrasound for measurement of gastric volumes in healthy adults and adolescents.

Objectives: Abnormal gastric accommodation to a meal results in dyspepsia. Current methods to measure gastric volume (GV) are invasive or involve ionizing radiation. The aims of this study were to compare fasting and postprandial (PP) GVs measured by (99m)Tc-single photon emission computed tomography (SPECT) and 3-dimensional ultrasound (3D-US) in adults, to assess the performance characteristics of 3D-US measurement of GV during fasting and postprandially, and to develop normative data of GVs in 24 healthy adolescents.

Liver transplantation for pulmonary vascular complications of pediatric end-stage liver disease.

Purpose: Hepatopulmonary syndrome (HPS) and portopulmonary hypertension (PPH) are poorly understood pulmonary complications of end-stage liver disease (ESLD). We present a case series of children with HPS and PPH.

Methods: After institutional review board approval, query of our medical database identified children 0 to 18 years of age with ESLD diagnosed with HPS or PPH.

Predictors of family risk for celiac disease: a population-based study.

Background & Aims: There is an elevated prevalence of celiac disease (CD) in family members (FMs) of CD patients, but most prior studies have been done on selected populations. Our aim was to determine the clinical, serologic, and genetic predictors of CD in FMs of a population-based cohort of index cases.

Methods: Index cases from southeast Minnesota provided contact information for their first-degree relatives.

A population-based study of the frequency of corticosteroid resistance and dependence in pediatric patients with Crohn's disease and ulcerative colitis.

Background: The goal of this study was to examine the 1-year outcome after the first course of systemic corticosteroids in an inception cohort of pediatric patients with inflammatory bowel disease.

Methods: All Olmsted County (Minnesota) residents diagnosed with Crohn's disease (n = 50) or ulcerative colitis (n = 36) before 19 years of age from 1940 to 2001 were identified. Outcomes at 30 days and 1 year after the initial course of corticosteroids were recorded.

Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD).

The autosomal recessive form of polycystic kidney disease (ARPKD) is generally considered an infantile disorder with the typical presentation of greatly enlarged echogenic kidneys detected in utero or within the neonatal period, often resulting in neonatal demise. However, there is an increasing realization that survivors often thrive into adulthood with complications of the ductal plate malformation, manifesting as congenital hepatic fibrosis and Caroli disease, becoming prominent. Previous natural history studies have concentrated almost exclusively on the infantile presenting group.

Clinical characteristics of eosinophilic esophagitis in children.

Objectives: The role of eosinophilic esophagitis (EE) in aerodigestive tract disorders in children is underestimated and overlooked, primarily because of a lack of understanding of this disorder by otolaryngologists. We sought to better characterize the clinical presentation of EE in order to increase awareness among otolaryngologists.

Methods: We retrospectively reviewed 71 children with biopsy-proven EE to determine the most common symptoms and laboratory findings that should increase the clinical suspicion of EE.

Celiac disease in type 1 diabetes mellitus in a North American community: prevalence, serologic screening, and clinical features.

Objectives: To estimate the prevalence of cellac disease (CD) in pediatric and adult type 1 diabetes melitus in a defined population and to describe clinical features and HLA class II genotypes predictive of CD in screened patients with type 1 diabetes.

Patients And Methods: All residents of Olmsted County, Minnesota, with type 1 diabetes mellitus on the prevalence date January 1, 2001, were identified with the use of an established medical records linkage system (Rochester Epidemiology Project) and defined clinical criteria. Consenting patients underwent serologic screening with endomyslal antibody and tissue transglutaminase antibody testing and Intestinal biopsies to confirm the diagnosis of CD.

Gastric sensory and motor dysfunction in adolescents with functional dyspepsia.

Objectives: Validated, noninvasive studies were used to compare sensation and motor function of the upper gastrointestinal tract in adolescents with functional dyspepsia (FD) and in control subjects.

Study Design: Fifteen adolescents with FD and 15 healthy participants underwent standardized symptom assessment, a satiation nutrient drink test, and 13 C-Spirulina platensis breath test for gastric emptying of solids. Adolescents with FD also underwent measurements of fasting and postprandial gastric volume by means of single-photon emission computed tomography, and their results were compared with those from 15 healthy volunteers (age, 18 to 25 years).

Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life.

Neonatal hyperammonemia secondary to X-linked ornithine transcarbamylase (OTC) deficiency carries a high risk of morbidity and mortality. Results of medical therapy are less than satisfactory. Experience with liver transplantation in very young affected infants is limited.

The role of pelvic floor dysfunction and slow colonic transit in adolescents with refractory constipation.

Objective: Although pelvic floor dysfunction (PFD) is recognized as a cause of refractory constipation in adults, this diagnosis is not frequently considered in children and adolescents with refractory constipation. The purpose of this study was to examine the symptoms and colonic transit in adolescents with constipation evaluated for a disorder in pelvic floor function.

Methods: Adolescents with refractory constipation who had undergone anorectal manometry (ARM) and balloon expulsion test (BET) were identified by retrospective review of records.

Functional dyspepsia, upper gastrointestinal symptoms, and transit in children.

Objective: To assess the prevalence of abnormal gastric emptying and small bowel transit in children with functional dyspepsia at a tertiary care center, and the relationship between abnormal gastric and small bowel transit and symptoms in pediatric patients with functional gastrointestinal disorders.

Study Design: Patients were selected by a cross-sectional chart review based on the following inclusion criteria: (1) completion of scintigraphic study of the gastric emptying of solids at 2 hours (GE2), 4 hours (GE4), and small bowel transit at 6 hours (SBT) using a standardized egg meal labeled with 99mTechnetium sulfur colloid, and (2) gastrointestinal (GI) complaints without mucosal or organic disease. Logistic regression analysis was used to assess the association between the presence of upper GI symptoms, and each parameter of gastric and small bowel transit.

Wilson disease.

Wilson disease is a rare disorder of copper metabolism that results in accumulation of copper in the liver and subsequently in other organs, mainly the central nervous system and the kidneys. Advances in the diagnosis and treatment of Wilson disease are discussed, with the emphasis that this is a disease of children, adolescents, and young adults. The myriad manifestations of Wilson disease make its diagnosis dependent on a high index of suspicion, and determination of its genetic background is helping to elucidate the genotype-phenotype correlation and the diversity of presentations.