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.
This systematic review critically compares current international guidelines and recommendations from major medical organizations on the management of celiac disease (CD) in individuals with Down syndrome (DS), in light of the increased disease prevalence and the diagnostic challenges posed by overlapping clinical and immunological features. A comprehensive search of PubMed, Embase, Scopus, and international association websites (through June 1, 2025) identified guidelines, position papers, and expert statements endorsed by national or international bodies. Two reviewers independently screened and selected studies, and guideline quality was assessed using the AGREE II tool. Of 929 records identified, seven clinical practice guidelines, and two clinical practice reports were included. Recommendations varied widely, ranging from universal screening (e.g., British Society of Paediatric Gastroenterology, Hepatology and Nutrition [BSPGHAN], Down Syndrome Medical Interest Group [DSMIG], European Society for the Study of Coeliac Disease [ESsCD], European Society for Pediatric Gastroenterology, Hepatology, and Nutrition [ESPGHAN] and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition [NASPGHAN]) to symptom-based testing (e.g., American Academy of Pediatrics [AAP], American Gastroenterological Association [AGA], American College of Gastroenterology [ACG], and National Institute for Health and Care Excellence [NICE]). While there is consensus on serologic screening using tissue transglutaminase IgA (tTG-IgA) and total IgA, interpretation is complicated by the high prevalence of selective IgA deficiency in DS, often necessitating IgG-based testing. HLA genotyping is not generally recommended for routine screening but may help exclude CD in non-susceptible individuals and support biopsy-sparing diagnostic pathways. In conclusion, marked heterogeneity exists among current guidelines. Harmonized, evidence-based recommendations are needed. HLA-DQ2/DQ8 genotyping should be used primarily for its high negative predictive value to exclude CD in non-susceptible individuals with DS. This tiered approach offers a clinically actionable strategy to reduce diagnostic delays, minimize unnecessary procedures, and improve care equity for children with DS.
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.
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.
Joubert syndrome (JS) is a rare genetic disorder characterized by developmental abnormalities, particularly in the brainstem and cerebellar vermis, alongside multisystem manifestations such as kidney and liver anomalies, polydactyly, cleft lip or palate, and tongue defects. The underlying ciliopathy causing JS may also contribute to gastrointestinal symptoms and immune dysregulation via Wnt signaling and impaired epithelial maintenance. Dysmotility including Hirschsprung disease has been documented at increased rates in JS and in other ciliopathies. Our case series highlights how JS patients frequently exhibit feeding intolerance, vomiting, and poor growth, which may raise suspicion for an underlying gastrointestinal condition, such as eosinophilic esophagitis (EoE). Gastrointestinal symptoms often overlap with other chronic issues, delaying diagnosis and treatment, which can affect long-term outcomes. These cases underscore the importance of thorough evaluations, including endoscopy, to investigate persistent symptoms suggestive of eosinophilic gastrointestinal diseases (EGIDs)/EoE. Such vigilance promotes early targeted therapies, improves quality of life, and decreases the risk of complications including formation of esophageal strictures.
With the recent approval of small molecule drugs such as upadacitinib in adult inflammatory bowel disease (IBD), their utilization is becoming more common; however, there is limited data on perioperative risks or optimal timing of cessation and resumption to mitigate flares. Current recommendations suggest holding these medications for 14 days postoperatively for IBD-related surgeries. We present a 17-year-old female with severe fistulizing perianal and rectosigmoid Crohn's disease who required diverting sigmoidostomy for her perianal disease. Her disease was controlled on upadacitinib for 1 year; however, she had reoccurrence of fistulizing disease with perianal abscess after stopping upadacitinib for 14 days following sigmoidostomy takedown. This 14-day timeline puts patients at risk of resumption of active disease, with fistula recurrence being a disease subset that may not be able to be salvaged with medication resumption alone. Shared decision-making is crucial before deciding how long to withhold these medications, but more research is needed to provide concrete guidelines.
Gastric signet-ring cell carcinoma (SRCC) is a rare form of gastric cancer characterized by mucus-rich tumor cells forming a distinctive ring-like appearance and is exceedingly rare in children, accounting for less than 1% of all childhood malignancies. We report a case of a 14-year-old patient who presented with melena, hematemesis, and syncope. Upper gastrointestinal endoscopy revealed an ulcerative mass located in the gastric cardia. Histopathological examination confirmed gastric adenocarcinoma demonstrating signet-ring cell features. The patient underwent laparoscopic-assisted radical proximal gastrectomy, esophagogastric anastomosis, abdominal drainage, and a D2 lymphadenectomy, which includes dissection of both perigastric and second-tier lymph nodes. The final diagnosis was SRCC of the stomach. Postoperative Tumor Node Metastasis (TNM) staging was stage III (T3N0M0). Follow-up indicates that the patient remains in good health and has remained symptom-free for 5 years. Given the rarity of this malignancy and the limited number of pediatric case studies, there is an urgent need to accumulate additional clinical and immunohistochemical data to enhance understanding and improve diagnostic accuracy.
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Lifelong adherence to a gluten-free diet (GFD) is the primary treatment for celiac disease (CeD). Concerns have been raised about increased exposure to contaminants in a GFD because rice, which naturally bioaccumulates arsenic and other environmental contaminants, is commonly used as a substitute for gluten. In this study, we aimed to determine whether elevated urinary arsenic and other heavy metal concentrations, previously observed after 6 months on a GFD, persisted after 12 months on a GFD. Single-center prospective longitudinal cohort study of children (age 2-18 years) with biopsy-confirmed CeD who initiated a GFD between January and May 2022. The primary outcome was the change in urinary arsenic concentration between baseline diagnostic endoscopy and 12 months on a GFD. Twenty-one of the 35 (60%) participants provided a follow-up sample. After 12 months on a GFD, total median urinary arsenic concentration returned to baseline (3.42 vs. 4.93 μg/L, p = 0.17). The median total nail arsenic collection did not differ significantly between endoscopy and 12 months on a GFD samples (p = 0.56). Only urinary molybdenum concentration was increased between endoscopy and 12 months of a GFD. Children with CeD may have increased arsenic exposure as they transition to a GFD, but concentrations return to baseline within 1 year. Future studies are needed to identify dietary contributors and guide strategies to limit excess arsenic exposure.
This case series aims to describe whether transient elastography (TE) as a marker of liver stiffness is associated with clinically important liver disease in children and young adults with Shwachman-Diamond Syndrome (SDS). All patients ≤25 years of age with genetically confirmed SDS seen in the Pediatric Gastroenterology Clinic at Boston Children's Hospital from 07/2017 to 11/2019 were included. Data collected included TE, hepatic transaminases, fecal elastase, and anthropometry. The correlation of liver stiffness measurements with alanine aminotransferase (ALT) and aspartate aminotransferase (AST) was assessed by Spearman rank correlation accompanied by 95% confidence intervals based on Fisher's Z transformation. Eight patients (six female) were identified with genetically confirmed SDS for whom the median age on the day of TE was 6years. Median (range) AST and ALT were 31 U/L (17-61) and 30 U/L (12-87), respectively, obtained within a median of 18 days (range 0-168) from liver stiffness measurement (LSM). All patients had exocrine pancreatic insufficiency as defined by fecal elastase <200 μg/g. Five patients had abdominal ultrasound within a median of 1.7 years (range 0.0-5.1), of whom four had normal results (one unknown). All eight patients underwent TE with median (range) LSM and controlled attenuation parameter (CAP) measurement (n = 6) of 5.2 kPa (3.3-6.4) and 171 dB/m (113-250), respectively. LSM greater than METAVIR F0 was not associated with AST and ALT elevations. In our case series of eight patients with SDS, LSM greater than METAVIR F0 was reported in three patients, two of whom had normal transaminases. This suggests that subclinical liver disease may exist in SDS patients with normal hepatic transaminases.
Monitoring for Helicobacter pylori (H. pylori)-eradication is important, since symptom improvement does not indicate treatment success. Using EuroPedHp Registry data, we investigated characteristics of children missing monitoring visits after prescribed therapy, compliance effect on eradication, and factors associated with loss to follow-up and low compliance. Between 2017 and 2020, 30 paediatric hospitals from 17 European countries reported 1605 children with biopsy-proven H. pylori-infection. Children with prescribed therapy were analysed. Risk factors for loss to follow-up or low compliance (taking ≤90% of prescribed medications) were identified applying multivariable logistic regression. Of 1263 infected children with prescribed therapy, 390 (31%) were lost to follow-up. Risk factors for loss to follow-up included nausea/dyspepsia (p = 0.004) or gastrointestinal bleeding (p = 0.03) as indication for endoscopy, living in Israel or Türkiye (p = 0.0002), and having no antibiotic susceptibility result (p = 0.004). Risk decreased with living in Southern Europe (p = 0.002), migration background (p = 0.052), and probiotic use during therapy (p = 0.02). Low compliance, reported in 69/831 (8%) children with follow-up data, was associated with vomiting (p = 0.003), peptic ulcers or erosions (p = 0.03), living in EasternEurope (p = 0.009), Israel or Türkiye (p = 0.0008), and any adverse event during therapy (p = 0.0009). First-line tailored triple therapy (TTT) for 14 days (N = 480) was successful in 92% with excellent versus 61% with low compliance (p < 0.0001). After ≥1 failed therapies (N = 60), TTT was successful in 71% with high versus 13% with low compliance (p = 0.003). The registry data identified several factors associated with non-adherence to medication and monitoring visits. Improving information to patient/caregiver may increase adherence, care and treatment success.
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Cystic biliary atresia (CBA) is a rare variant of biliary atresia that closely resembles choledochal cyst (CC), complicating diagnosis and potentially delaying critical surgical intervention. We report two cases of CBA that were difficult to diagnose. Case 1 involved a 32+2-week-old infant with ABO incompatibility and conjugated hyperbilirubinemia. Ultrasound suggested CC, but magnetic resonance cholangiopancreatography (MRCP) indicated CBA, confirmed by intraoperative cholangiogram. The infant underwent Kasai hepatoportoenterostomy (KHPE) and is now 2 years old with normal liver function. Case 2 involved a 17-day-old infant with hyperbilirubinemia and pigmented stools. Ultrasound and MRCP suggested CC or CBA, confirmed as CBA through intraoperative cholangiogram. The infant underwent KHPE but later required liver transplantation due to cirrhosis and is now 2 years old with normal liver function. Early diagnosis and timely surgical intervention are crucial for managing CBA, with KHPE being the treatment of choice if performed within 30-45 days of life.
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.
Nutrition is an essential component of care for all patients. However, electronic medical record (EMR) systems lack a centralized location for nutrition-related information. The absence of standardized documentation and workflows is misaligned with key domains of healthcare quality as defined by the Institute of Medicine- namely, safety, patient-centeredness, and efficiency. This study aims to identify opportunities for EMRs to enhance nutrition evaluation, management, and safety. A 12-item online survey was developed and distributed to pediatric healthcare providers to assess current practices in EMR documentation of nutrition information, identify nutrition-related adverse events, and elicit suggestions for improvements. Descriptive statistics and the Kruskal-Wallis test were utilized to analyze quantitative survey data. Qualitative data were analyzed thematically to identify key concerns and a core theory reflecting respondents' perspectives. One-hundred and fifteen participants completed the survey, resulting in a response rate of 23%. Only 54% of participants reported having a standardized EMR workflow for documenting food allergies and intolerances. Multiple challenges were reported in locating nutrition plans within the EMR, including absence of a standard location for information, lack of order interoperability across settings, and inconsistent information. Most respondents (73%) reported awareness of nutrition-related safety events at their institution. There is a critical need to optimize and standardize nutrition documentation within EMRs. Healthcare providers are calling for a unified, integrated system that distinguishes food allergies and intolerances, enhances the visibility of essential nutrition data, and links dietary information across departments and care settings to improve patient safety and care coordination.
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.
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.
We present a case series of seven pediatric patients with collagenous gastritis (CG) with the aim of contributing data to existing literature about this rare disease to assist in the understanding and management of these patients. Gross nodularity seen on esophagogastroduodenoscopy and increased subepithelial collagen on biopsy were noted in the gastric body of all seven patients. Iron deficiency anemia was also diagnosed in all patients and did improve with iron supplementation. The most common symptoms were abdominal pain, fatigue, dizziness, and vomiting. Some patients seemed to have improvements in abdominal pain after use of antisecretory agents, such as proton pump inhibitors and histamine (H2) antagonists. All of the patients in our study had complete resolution of symptoms, but none showed improvements histologically. Even three patients who were trialed on oral or topical budesonide exhibited neither gross nor histologic improvements. Further clinical trials are needed to identify effective therapeutic strategies for CG that can result in long-term histological improvement.