Congenital bile acid synthesis defects (BASD), the most common of which is 3β-hydroxy-Δ5-C27-steroid dehydrogenase oxidoreductase (3β-HSD7) deficiency, are a rare cause of fat-soluble vitamin malabsorption. We describe a 14-year-old girl who presented at 14 months with a left distal femur fracture and failure to thrive. It was not until 13 years of age that after several hospitalizations for bleeding and severe vitamin K deficiency, the patient was ultimately diagnosed with 3β-HSD7 deficiency. We also describe the case of an adolescent girl who was referred for treatment of Hepatitis C (HCV) and diagnosed with 3β-HSD7 deficiency after she failed to respond to therapy as expected. Finally, we review the diagnosis of BASD and highlight the challenges involved in our clinical cases. These cases demonstrate the importance of maintaining a broad differential when evaluating any patient with unexplained fat-soluble vitamin deficiencies and represent unique presentations of 3β-HSD7 deficiency in adolescent patients.
Alagille syndrome (ALGS) is a rare, autosomal dominant disorder which presents with a broad range of clinical manifestations, including cholestatic pruritus. A unique manifestation of ALGS is the presence of xanthomas in 24%-42% of patients, which can lead to liver transplantation. Maralixibat, an ileal bile acid transporter (IBAT) inhibitor, has demonstrated improvements in both cholestatic pruritus and xanthomas in clinical trials. We report here on the use of maralixibat in two patients with ALGS and unusual manifestations of xanthomatosis, including one patient with airway xanthomas and a second patient with severe, diffuse xanthomas. In both cases, almost complete resolution of severe, debilitating xanthomas and clinically meaningful improvements in pruritus and serum bile acid levels were observed after up to 1 year of treatment with maralixibat. These cases support the utilization of maralixibat for the management of ALGS beyond cholestatic pruritus.
We present a case of a 9-year-old patient who presented with hematemesis after consuming crisps with a high pungency (the so-called ghost peppers). Blood loss resulted in a significant decrease in hemoglobin and for this reason a gastroduodenoscopy was performed. This demonstrated diffuse bleeding of the gastric mucosa, in the corpus of the stomach for which hemospray was applied. Since we were not able to identify a plausible other cause, and the patient remained asymptomatic with a normal follow-up gastroduodenoscopy, we consider it most likely that the crisps have contributed to the development of the stomach hemorrhage. In scientific literature no previous reports have described this possible relationship so far. However, in the news media, there have been several reports about morbidity and even mortality when eating high-pungency crisps. With this case report, we hope to provide a scientific background and create awareness of the possible consequences of high-pungency food to prevent future complications.
To characterize the clinical, histopathologic, and molecular-genetic characteristics of Lynch syndrome (LS)-associated gastrointestinal disease in the pediatric population. We conducted a scoping review, systematically searching PubMed and Embase® (from inception to October 16, 2025) and using controlled vocabulary and keywords, with additional screening of reference lists and conference abstracts. We included reports of gastrointestinal manifestations of LS in individuals <21 years or pediatric subsets within mixed-age cohorts; no language, date, or geographic restrictions were applied. Titles/abstracts and full texts were independently screened. Data were abstracted for demographics, presentation, gastrointestinal phenotype, tumor characteristics, mismatch repair immunohistochemistry, genotype, management, and outcomes. Findings were summarized descriptively. Forty-eight pediatric LS patients (age 12-21 years, mean 16; 26 male) were included. Gastrointestinal manifestations included colorectal cancer (CRC) (n = 44), adenomatous polyps (n = 5), gastric adenocarcinoma (n = 1), and jejunal adenocarcinoma (n = 1). CRCs were predominantly left-sided (71%) and advanced at diagnosis (66% stage III/IV). Right-sided tumors were more common (3:1) in males whereas left-sided tumors were evenly distributed. MMR gene variants were reported in 37 patients, dominated by MLH1 (54%) and MSH2 (32%), with fewer MSH6 and PMS2 variants (14%). Histology included conventional (69%), mucinous (22%), medullary (6%), and signet-ring (3%) adenocarcinoma. LS confers risk for pediatric colorectal adenoma and cancer. CRC in this population manifests predominantly as left-sided, advanced-stage CRC, driven by loss-of-function variants in MLH1 and MSH2. These findings contrast with the right-sided predominant adult LS and suggest age-specific biology. Increased awareness and further research are needed to inform age-appropriate surveillance strategies.
Upadacitinib, a second-generation Janus kinase (JAK) inhibitor, is approved for moderate to severe Crohn's disease (CD) and ulcerative colitis (UC) in adults. Its efficacy in pediatric patients remains unclear, though early reports suggest benefits in refractory inflammatory bowel disease (IBD). However, data indicate potential relapse after dose reduction. This study evaluates upadacitinib's sustained efficacy in pediatric IBD, particularly when transitioning from induction to maintenance dosing. We conducted a case series of 16 pediatric patients (mean age 16.1 years) treated with upadacitinib for refractory IBD between 2023 and 2024. Treatment responses were analyzed in 8 patients who completed induction (45 mg daily) and transitioned to maintenance dosing (30 or 15 mg daily based on provider preference). Relapse rates and responses to dose adjustments were assessed. Among the 16 patients, 8 had UC, 7 had CD, and 1 had IBD-unclassified. Seven (43.8%; 95% confidence interval [CI], 19.4%-68.1%) lost response after transitioning to maintenance, with a median time to relapse of 81.5 days. Of these, 6 (85.7%; 95% CI, 42%-99%) regained response after increasing the dose back to induction dosing. Our findings suggest that pediatric patients may require longer induction, higher maintenance doses, or individualized dosing due to pharmacokinetics. Given the high relapse rate in our small cohort, close monitoring and tailored treatment strategies are essential.
Recognizing bowel dysfunction and toilet training issues can be challenging due to conflicting information about what is normal. This study aims to provide an overview of toilet training practices and bowel habits in healthy children up to 4 years. This study among 6850 parent-child pairs was part of the Generation R Study-a population-based prospective cohort study-and used questionnaires regarding toilet training and bowel habits. Logistic regression was used to analyze associations of demographic factors with toilet training start and completion, presented as odds ratios [95% confidence interval]. At 24 months, 60.1% of children had started toilet training, and at 36 months, 60.0% had completed it. Sex, maternal education level, and the child's ethnic background were associated with having started toilet training by 24 months (girls: 1.48 [1.31-1.67], high compared to low educational level: 0.65 [0.47-0.91], and Turkish, Surinamese, Antillean, and other (outside Europe), compared to Dutch: 1.71 [1.26-2.32], 1.73 [1.29-2.31], 3.79 [2.04-7.05], and 1.53 [1.23-1.91], respectively). Only sex and ethnic background showed associations with having completed toilet training by 36 months. Reported defecation frequency varied widely in early life but stabilized to 1-2 times daily for 81.3% of children by 24 months. Infrequent bowel movements and predominantly hard feces were present in up to 6.3% and 14.3%, respectively. This study demonstrates that 60% of children are toilet-trained by 36 months. Additionally, it provides insights into healthy children's bowel habits and toilet training milestones, highlighting variations by sex, socioeconomic status, and ethnicity, which can help identify abnormal patterns.
Accidental caustic ingestions are uncommon but can lead to serious esophageal injury. Clinicians may lack experience grading mucosal findings, creating circumstances for treatment misalignment because management recommendations depend on severity. Regardless of treatment, access to pediatric gastroenterology is essential for severe injuries but is often limited by geography and can be further impacted by poor social determinants of health (SDOH). This report describes the case of a simultaneous accidental caustic ingestion in two previously healthy siblings with severe esophageal injuries. Amidst divergent care plans derived from their initial grading, their outcomes were complicated by the intersection of complex initial assessment, escalating treatment recommendations based on esophageal injury severity, and poor SDOH impeding follow-up. Grading accuracy can be supported with adjunct computed tomography to assess transmural injury. Assessment of a family's SDOH is key to addressing barriers to follow-up and creating a multidisciplinary approach in collaboration with the medical home.
Following Coronavirus disease 2019 (COVID-19) paediatric diabetic ketoacidosis (DKA) incidence and severity rose. We report a 2020-2024 cluster of four DKA-associated acute liver failure (ALF) cases at the largest UK paediatric hepatology unit. None had known diabetes. Presentations: one perianal abscess; three reduced consciousness, requiring intubation. Standard UK DKA protocol was started. Admission liver functions were normal. By day 4, all developed cardiovascular instability and ALF with liver injury, coagulopathy, metabolic acidosis, and hyperlactataemia. All required inotropes and haemofiltration. Three arrested; two died. Both autopsies showed centriacinar necrosis, with macro- and micro-vesicular steatosis. The two survivors normalised liver function. Viral, immune, and metabolic studies were unremarkable. This cluster suggests a novel, severe hepatic phenotype complicating paediatric DKA. Plausible mechanisms include ischaemic hepatitis and drug injury on a background of diabetes-related mitochondrial vulnerability. Earlier recognition of type 1 diabetes and awareness of hepatic complications may reduce morbidity and mortality.
Langerhans cell histiocytosis (LCH) is a rare disorder characterized by clonal proliferation of Langerhans cells, most often involving the skin or bone. Isolated gastrointestinal (GI) involvement is extremely uncommon in young children. We report a 16-month-old girl with a 1-month history of chronic vomiting, bloody diarrhea, and failure to thrive who was found to have GI-LCH without systemic involvement. She was started on standard LCH chemotherapy with a favorable clinical response. This case highlights the importance of considering LCH in infants/toddlers with unexplained GI symptoms and the utility of targeted molecular testing (e.g., BRAF mutation analysis) in guiding therapy.
Loxoscelism is a public health issue in tropical countries, particularly in Brazil. It can affect children of all ages and may lead to severe and irreversible injuries. We report the case of an infant who suffered a severe loxoscelism accident in the cervical region, progressing to esophageal stricture requiring multiple dilations. Fortunately, in this case, the outcome was favorable despite the need for surgical and endoscopic interventions. This case highlights the importance of both individual and collective preventive measures to reduce the incidence of such accidents, especially in the pediatric population.
Children with inflammatory bowel disease (IBD) have an increased risk of developing kidney disorders, which may cause significant kidney function impairment (SKI) or lead to chronic kidney disease (CKD). In this study we aimed to provide insights in causes and diagnoses of SKI cases and to provide recommendations for pediatric gastroenterologists for children with IBD and SKI. Cases of SKI in children with IBD (<19 years) were collected from the international, prospective PIBD-SETQuality Safety Registry. A monthly survey was sent to participating pediatric gastroenterologists to report cases of SKI (defined as an estimated glomerular filtration rate (eGFR) < 60 mL/min/1.73m2). Additionally, a panel consisting of 16 members (including experts in pediatric IBD and nephrology) rated the most likely cause of the cases and formulated recommendations for screening, follow-up and referral for children with IBD and SKI. Between November 1, 2016 and December 31, 2023, 42 cases of SKI were eligible for analysis. Tubulo-interstitial nephritis (TIN) was the most common diagnosis (n = 15). Sixteen (38%) cases were confirmed with renal biopsy (10 cases of TIN). Twelve patients developed CKD. IBD medication was the most frequently reported cause (n = 15), however, there was low concordance between panelists about the most likely etiology (Fleiss' kappa 0.143 and 0.102). This is the first prospective study to report cases of SKI in children with IBD. SKI may lead to CKD. Confirming the etiology of the SKI proved to be very challenging. The study provides recommendations for screening and follow-up of SKI in children with IBD. NCT03571373, date of registration: June 27, 2018, URL: https://clinicaltrials.gov/study/NCT03571373.
Gastrointestinal bleeding is relatively common in children. While most patients present with mild bleeding, gastric antral vascular ectasia (GAVE) is a rare but potentially life-threatening cause. GAVE is typically associated with chronic conditions and more common in adults. The incidence, diagnosis, and management of GAVE in the pediatric population have not been established. We present two cases of GAVE with severe and chronic gastrointestinal bleeding. The first patient, a 7-year-old with chronic granulomatous disease who had melena and anemia following hematopoietic stem cell transplantation (HSCT). Endoscopic intervention with argon plasma coagulation (APC) was successful in achieving hemostasis. The second patient, an 18-year-old with veno-occlusive disease (VOD), developed GAVE as a result of portal hypertension. Endoscopic intervention with APC successfully controlled the bleeding in this patient as well. These cases highlight the challenges associated with diagnosing and managing GAVE in children.
Pneumatosis cystoides coli (PCC) describes gas-filled cysts within the wall of the gastrointestinal tract and is uncommon in children. We report a 7-year-old female with a history of recurrent ileocolic intussusception secondary to PCC. Her initial episodes of intussusception resolved spontaneously or with air enema, but no lead point was identified. On her third presentation to the emergency department with a similar complaint, computed tomography of the abdomen and pelvis revealed extensive colonic mural air-filled cystic lesions which had been present during prior episodes of intussusception. The patient was treated with metronidazole, a sorbitol-free diet, and continuous low-flow oxygen. Despite these treatments, PCC persisted on imaging. Hyperbaric oxygen treatment was initiated, leading to complete resolution of PCC without any further episodes.
Skin and lung findings, including the rare findings of leukocytoclastic vasculitis (LCV) and necrobiotic pulmonary nodules, are known extraintestinal manifestations (EIMs) of inflammatory bowel disease. However, these rare EIMs have typically been reported as being a sign of active intestinal disease. We report an ulcerative colitis patient with multiple skin and pulmonary findings while in endoscopic remission. Clinicians should remain alert to the possibility of EIMs, even in the absence of intestinal symptoms.
Nutritional therapy plays a crucial role in managing pediatric Crohn's disease (CD). Exclusive enteral nutrition (EEN) is the primary induction therapy, achieving high remission and mucosal healing rates. However, its restrictive nature poses psychological and practical challenges. The Crohn's disease exclusion diet (CDED), a solid food-based approach with partial enteral nutrition (PEN), has emerged as an alternative. This study examines Australasian pediatric gastroenterologists' and dietitians'perspectives on CDED implementation. A cross-sectional survey was conducted via an anonymized, 20-question online questionnaire distributed through Qualtrics to Australasian pediatric gastroenterologists and dietitians. The survey assessed demographics, familiarity with CDED, clinical application, and perceived benefits and barriers. Responses were analyzed using descriptive statistics (Microsoft Excel) and content analysis for open-ended responses. Forty-five respondents (29 gastroenterologists, 16 dietitians) participated. Most (91.1%) were familiar with CDED, and 68.9% had used it in practice. While 45% considered CDED less effective than EEN, 37.5% viewed it as equally effective. Key barriers included preference for EEN (62.5%), resource limitations (33.3%), lack of guideline inclusion (25%), and insufficient evidence (20.8%). Additionally, 71.1% cited a shortage of trained dietitians as a major obstacle. CDED is gaining recognition but faces challenges in adoption due to limited training and evidence gaps. While considered less socially restrictive than EEN, concerns remain about dietary restrictions' psychological impact. Expanding dietitian training and generating robust clinical evidence could enhance CDED's integration into pediatric CD management in Australasia.
Pyloric dysfunction is becoming increasingly recognized as a cause of gastroparesis, but its diagnostic and therapeutic role in infants has not been well studied. Identification and treatment of pyloric dysfunction with functional luminal imaging probe (FLIP) technology or use of pyloric inhibition are not routinely used in infants due to lack of standardized parameters and safety concerns. We report the first known case of pyloric distensibility testing in an infant in which identification of low pyloric distensibility and subsequent therapeutic balloon dilatation and intrapyloric botulinum toxin injection resulted in marked and sustained improvement in gastric feeding tolerance. This case highlights the feasibility, safety, and clinical effectiveness of FLIP as a diagnostic and treatment tool in an infant with pyloric dysfunction. Better characterization of infant pyloric distensibility offers the possibility of evidence-based treatment strategies for feeding intolerance attributed to pyloric dysfunction.
The 2023 joint North American Society for Pediatric Gastroenterology, Hepatology & Nutrition/European Society for Pediatric Gastroenterology, Hepatology & Nutrition guidelines for Helicobacter pylori infection management continue recommending initial diagnosis via endoscopy with biopsies, and obtaining a gastric biopsy culture. We previously reported on a quality improvement (QI) initiative to improve the rate of successful gastric biopsy culture at our hospital. We present 5-year follow-up data and describe implementation strategies that may guide similar efforts at other centers. Interventions were conducted using the plan-do-study-act (PDSA) framework to: (1) consolidate specialty laboratory processing to a single outside laboratory, and (2) educate and provide reminders to gastroenterologists, endoscopy suite personnel, and laboratory staff. Descriptive statistics were performed on all collected variables. Differences in culture positivity by year, and before and after consolidation to a single specialty laboratory, were assessed using logistic regression, and a p-chart was constructed to determine variation. All analyses were conducted using R (version 2025.05). Between November 1, 2019, and March 31, 2025, we observed a consistent increase in the number of gastric biopsy cultures obtained by gastroenterologists each year. Among patients with positive histology, a logistic regression model demonstrated a significant association between calendar year and the odds of a positive culture (odds ratio [OR]: 2.19, 95% confidence interval [CI]: 1.7-2.9, p < 0.001). A marked improvement in culture positivity was observed following the intervention to consolidate specialty laboratory processing. The implemented interventions, such as staff education, standardized checklists, and processing consolidation, may have led to sustained improvements in the success of primary gastric biopsy cultures.
pH-impedance monitoring (pH-MII) is often used to evaluate severity and type of gastroesophageal reflux disease (GERD). The Nakagawa rumination score, which is derived using data from pH-MII, has been proposed as a metric to diagnose rumination syndrome in adults. However, this approach has not been validated in children. Esophageal manometry to diagnose rumination syndrome is not available in many centers. Our goal was to assess the utility of pH-MII as a substitute for manometry to diagnose rumination syndrome in children. Pediatric patients who underwent pH-MII at the University of Iowa Children's Hospital between 2019 and 2025 were included. Demographic and clinical data, indications, pH-MII findings including Nakagawa rumination score if done, and patient outcome data for rumination syndrome were collected. Ninety-seven pH-MII were completed on 94 children aged 23 days old to 19 years old (median 11 [interquartile range, (IQR) 5-15]). The most common indication identified (44%) was to "evaluate for reflux". Twelve of these children were further evaluated for rumination syndrome; 10 had a Nakagawa rumination score calculated, with 9 scoring as positive. Eleven children had pH-MII suggestive of rumination syndrome. Four responded to rumination therapy, two did not, two were too recent to assess, two were lost to follow-up, and one improved spontaneously. Our analysis of pediatric pH-MII data over a 6-year span highlights that there is potential value in using pH-MII to evaluate for rumination syndrome in centers without access to esophageal manometry. However, more study of this alternative is needed.
Solid pseudopapillary epithelial neoplasm (SPEN) of the pancreas is a rare, low-grade pancreatic neoplasm that is uncommon in the pediatric population. We present the case of previously healthy 11-year-old girl with a pancreatic mass initially misdiagnosed as a pseudocyst, later confirmed to be a SPEN. This report highlights key clinical and imaging features distinguishing SPEN from pancreatic pseudocysts and underscores the importance of maintaining a broad differential diagnosis when the clinical course is atypical.
Protein-losing enteropathy (PLE) is a rare condition that is characterized by loss of plasma protein in the intestines leading to hypoproteinemia with subsequent peripheral edema and possibly anasarca. The pathophysiology of PLE varies depending on the etiology and involves either intestinal mucosal injury or lymphatic system alterations. While transient PLE can occur in the setting of viral infections, persistent or recurrent PLE requires comprehensive evaluation and multidisciplinary management approach. Here, we present two cases of PLE: the first case secondary to a common pediatric infection and the second case of primary intestinal lymphangiectasia with severe symptoms improved with diet therapy.