Juvenile polyposis syndrome in children: The impact of SMAD4 and BMPR1A mutations on clinical phenotype and polyp burden.

Objective: A constitutional disease-causing variant (DCV) in the SMAD4 or BMPR1A genes is present in 40%-60% of patients with juvenile polyposis syndrome (JPS). The aim of this study was to characterize the clinical course and polyp burden in children with DCV-positive JPS compared to DCV-negative JPS.

Methods: Demographic, clinical, genetic, and endoscopic data of children with JPS were compiled from eight international centers in the ESPHGAN/NASPGHAN polyposis working group.

Delayed Diagnosis in a Male With Congenital Chloride Losing Diarrhea.

Congenital chloride diarrhea is a secretory type of diarrhea, inherited in as autosomal recessive. Our case involves a 12-month-old male who initially presented in infancy and was treated with an exclusive elemental formula diet. At 12 months of age, he presented with significant hypokalemia, hypochloremia, and metabolic alkalosis.

Characterizing Pediatric Familial Adenomatous Polyposis in Patients Undergoing Colectomy in the United States.

Objective: To characterize a multi-institutional cohort of pediatric patients who underwent colectomy for familial adenomatous polyposis (FAP).

Study Design: In this retrospective cohort study, diagnosis and procedure codes were used to identify patients who underwent colectomy for FAP within the Pediatric Health Information System (PHIS). The inclusion criteria were validated at 3 children's hospitals and applied to PHIS to generate a cohort of patients with FAP between 2 and 21 years who had undergone colectomy between 2009 and 2019.

Hearing Status of Children and Adolescents With Familial Adenomatous Polyposis.

Background/aim: Chemopreventative therapeutics may be helpful in familial adenomatous polyposis (FAP) management; however, prospective chemopreventative studies are complicated by potential ototoxicity and pre-existing hearing loss. The aim of this study was to establish and compare baseline hearing status of children and adolescents with FAP and their unaffected siblings.

Patients And Methods: Twenty FAP pediatric patients with documented mutation of the adenomatous polyposis coli (APC) gene and nine unaffected sibling controls underwent baseline hearing evaluation, including audiometry, speech perception testing, and middle and inner ear physiologic measures.

Clinical Outcomes of a Modified Laryngeal Mask Airway (LMA Gastro™ Airway) During Esophagogastroduodenoscopy in Children and Adolescents: A Randomized Study.

Introduction: During esophagogastroduodenoscopy (EGD), general anesthesia (GA) may be provided using a laryngeal mask airway (LMA) with the endoscope inserted behind the cuff of the LMA into the esophagus. Passage of the endoscope may increase the intracuff of the LMA. We evaluated a newly designed LMA (LMA Gastro™ Airway) which has an internal channel exiting from its distal end to facilitate EGD.

Lynch syndrome-associated colorectal cancer in a 16-year-old girl due to a mutation.

The diagnosis of paediatric colorectal cancer is an unusual finding often diagnosed at an advanced stage with associated poor survival. Paediatric colorectal cancer warrants investigation for hereditary cancer predisposition syndromes, including Lynch syndrome. Here we describe a 16-year-old girl who presented with a stage IIA mucinous adenocarcinoma of the descending colon (T3 N0 M0) treated by resection alone that was associated with a pathogenic germline mutation of (c.

Gastrointestinal Endoscopy in the Neonate.

Gastrointestinal endoscopy permits direct observation of the alimentary tract, acquisition of mucosal tissue for histopathologic examination, and other diagnostic and therapeutic maneuvers. Endoscopes of appropriate size for many neonates and an expanding array of compatible tools and accessories have broadened what is possible, although few neonatal data exist to guide use. Evaluation and treatment of gastrointestinal bleeding, evaluation and dilation of fibromuscular congenital esophageal stenosis, and the bedside placement of gastrostomy tube have been described.

A retrospective chart review of the features of PTEN hamartoma tumour syndrome in children.

Objective: It is recognised that 5% - 10 % of children with macrocephaly and autism spectrum disorder (ASD) and/or intellectual disability (ID) have a heterozygous pathogenic mutation in the tumour suppressor gene that is associated with PTEN hamartoma tumour syndrome. However, the clinical features and course in children with a pathogenic mutation are unclear and have not been well documented.

Study Objectives: We undertook a retrospective chart review of children (< 18  years) with pathogenic mutations to ascertain clinical findings, clinical course and possible outcomes.

A proposed staging system and stage-specific interventions for familial adenomatous polyposis.

Background And Aims: It is not possible to accurately count adenomas in many patients with familial adenomatous polyposis (FAP). Nevertheless, polyp counts are critical in evaluating each patient's response to interventions. However, the U.

A comparison of pediatric gastrostomy tube placement techniques.

Purpose: This study aimed to compare different techniques for placement of gastrostomy tubes in a pediatric population.

Study Design: A retrospective review was performed for patients less than 18 years of age who underwent gastrostomy tube placement at a single academic children's hospital between 2010 and 2012. Techniques for gastrostomy placement included Open Stamm, percutaneous endoscopic gastrostomy (PEG), fluoroscopy guided, laparoscopic, and laparoscopic assisted PEG.

Lynch syndrome: a pediatric perspective.

Colorectal cancer is a rare disease in the pediatric age group and, when present, suggests an underlying genetic predisposition. The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2. The mutation-prone phenotype of this disorder is associated with gastrointestinal, endometrial, and other cancers and is now being identified in both symptomatic adolescents with malignancy as well in asymptomatic mutation carriers who are at risk for a spectrum of gastrointestinal and other cancers later in life.

Chemoprevention in patients with genetic risk of colorectal cancers.

A number of genetic syndromes are known to convey a high risk of colorectal cancer. Current standards of medical practice for these patients involve genetic testing followed by screening and surgical procedures. Pharmaceutical therapies for any of these syndromes are limited in number and are generally not approved by any regulatory body for applications in these genetic groups.

Impact of personalized feeding program in 100 NICU infants: pathophysiology-based approach for better outcomes.

Objectives: In neonatal intensive care unit infants referred for home-tube feeding methods, we evaluated the effect of an innovative diagnostic and management approach on feeding outcomes at discharge and 1 year, by comparing data from historical controls; we hypothesized that clinical and aerodigestive motility characteristics at evaluation were predictive of feeding outcomes at discharge; we assessed the economic impact of feeding outcomes.

Patients And Methods: Patients (N = 100) who were referred for development of long-term feeding management strategy at 46.4 ± 13.

Double-balloon enteroscopy: pediatric experience.

Objectives: Double-balloon enteroscopy (DBE) is a newly developed endoscopic modality for diagnosis and treatment of small bowel disorders. Most publications on DBE are from adult medical centers. Publication related to the use and application of DBE in children and adolescents is limited.

A web-based assessment of pediatrics resident medical knowledge in childhood hereditary gastrointestinal cancer predisposing syndromes.

Background: Pediatricians need to competently care for children with hereditary gastrointestinal cancer-predisposing syndromes. Pediatrics resident education on this subject has hithertofore never been studied.

Methods: Forty-five US pediatrics/internal medicine-pediatrics program directors allowed their residents to participate in an anonymous questionnaire.

Pediatric juvenile polyposis syndromes: an update.

Colon polyps are a common finding in pediatrics and can present with rectal bleeding, abdominal pain, or polyp prolapse from the rectum. Histologically classified as hamartomas, these isolated pediatric polyps lack epithelial dysplasia and have no cancer risk. However, when polyps are present in greater numbers, or are associated with a family history of polyps or colon or other cancers, a polyposis or hereditary colorectal cancer syndrome should be considered.

Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature.

Background: Ataxia-Telangiectasia syndrome is characterized by progressive cerebellar dysfunction, conjuctival and cutaneous telangiectasias, severe immune deficiencies, premature aging and predisposition to cancer. Clinical and radiographic evaluation for malignancy in ataxia-telangiectasia patients is usually atypical, leading to delays in diagnosis.

Case Presentation: We report the case of a 20 year old ataxia-telangiectasia patient with gastric adenocarcinoma that presented as complete gastric outlet obstruction.

Pediatric adenomatous polyposis syndromes: an update.

Juvenile polyps are a common finding in the pediatric population. In contrast, colon adenomas, which are viewed as dysplastic precancerous lesions, are found sporadically in late adulthood. Adenomas in children and young adults are highly unusual and suggest one of several forms of inherited colorectal cancer.

Gastrointestinal polyps and polyposis syndromes in children.

Gastrointestinal polyps are common during childhood and most often present with painless rectal bleeding. Most polyps occur as isolated colonic lesions and are not harbingers of an underlying genetic disorder, nor do they bestow a risk of gastrointestinal cancer. The astute pediatrician must be aware, however, that occasionally polyps may occur in the context of a genetic polyposis disorder characterized by an increase in the life-time risk of cancer in the gastrointestinal tract and other organ systems.

Aspergillus cholangitis: A late complication after Kasai portoenterostomy.

Ascending bacterial cholangitis can be a recurring complication in older children and adolescents who have undergone successful surgery for biliary atresia. The authors describe a 19-year-old girl with a history of recurrent late-onset, febrile cholangitis in whom persistent jaundice developed. Aspergillus terreus was isolated from her biliary fluid obtained at percutaneous transhepatic cholangiography.