Accurate pediatric gastrointestinal (GI) diagnosis often depends on integrating clinical, endoscopic, and histopathologic information. We evaluated the impact of weekly face-to-face multidisciplinary team (MDT) meetings on diagnosis in children undergoing endoscopy or liver biopsy at a tertiary center. This single-center study included 53 patients discussed between March and November 2025; because 6 children were reviewed twice, the analysis was case-based (59 MDT discussions). Diagnostic change was defined as any revision, reclassification, refinement, or exclusion of a suspected diagnosis after MDT review. Overall, diagnosis changed in 12 of 59 cases (20.3%). Endoscopic classifications changed significantly after MDT discussion (p = 0.0091), as did histopathology classifications (p = 0.0118). Pathologist experience was associated with pathology revision (p = 0.0293), whereas patient-specific parameters and endoscopist experience were not. Endoscopy requests to pathology were frequently sparse. These findings suggest that regular clinician-pathologist MDT review can improve diagnostic precision in pediatric GI practice.
Objectives:Pediatric feeding disorders (PFDs) are increasingly prevalent in the United States. Limited research has examined referral characteristics for outpatient feeding programs. This study analyzes patient referral characteristics based on referral patterns, patient demographics, and treatment interventions. Methods:A retrospective cohort study was conducted of pediatric patients evaluated in a multidisciplinary outpatient feeding clinic at a tertiary pediatric academic institution from 2021 to 2024. Results:We found a significant difference in the rate of referrals to our pediatric feeding program (p < 0.001), with primary care physician (PCP) referrals as the most common. There were significant differences in the rates of comorbidities (p = 0.004) and tube feeding (p < 0.001) among the referral sources, with specialist referrals associated with the highest rates and PCP referrals associated with the lowest rates. Oral aversion was common when a feeding tube was present, regardless of tube type. Conclusions:Given the high rate of referrals from PCPs, there is a significant opportunity to improve resource utilization and focus efforts on feeding disorders education for referring providers. In contrast, an accelerated pathway may need to be considered for patient referrals from specialists and neonatology due to higher comorbidities and the need for feeding tubes in this referral group. In the feeding tube category, our study also suggests that there may be no difference in the rates of aversive behaviors between different types of tubes used for enteral feeding; this may help guide provider/parent decision-making during enteral access selection.
Chylothorax in infants is a potentially life-threatening condition, often resulting from injury during cardiac surgery. Traditionally, breastfeeding is discontinued. Recently, feeding with defatted human milk has been safely introduced. However, methods for fat reintroduction are not standardized. We developed a mathematical formula to facilitate individualized, progressive reintroduction of fat into skimmed breast milk. Fat and protein content were analyzed by Fourier-transform infrared spectroscopy (FTIR). Defatting was performed by centrifugation at 3000 rpm at 2°C for 15 min. The formula considers: fat concentration of unmodified human milk and defatted milk, target fat concentration, and milk volume. Clinical application in a premature infant showed effective fat reintroduction (0.2 g/dL every 48 h), with no recurrence of chylothorax. Some factors influenced milk defatting. Breast milk provides important immunological and functional benefits. Our formula supports safe administration and can assist in designing further studies to determine optimal daily fat increments.
Commercial payers and pharmacy benefit managers use site-of-care and specialty drug distribution policies (including white bagging and brown bagging) that can redirect infusion-based biologic therapies from hospital outpatient departments to alternate settings. We conducted an anonymous web-based survey distributed via a national pediatric gastroenterology (GI) listserv (February 13-27, 2026) to characterize perceived access barriers and decision drivers for acceptable infusion sites among pediatric inflammatory bowel disease (IBD) clinicians. Among 100 respondents, prior authorization/payer friction was most frequently rated as a major/severe pain point (66%). The highest-rated decision drivers were reaction management capability (88% very/extremely important), reliable communication back to the GI team (88%), patient experience (88%), and pediatric infusion expertise (87%). These findings highlight administrative burden as the dominant barrier and underscore the importance of safety capability and bidirectional care integration when pediatric patients with IBD are shifted across sites of care.
Progressive Familial Intrahepatic Cholestasis type 1 (PFIC1) is a multisystem disorder. Although liver transplant (LT) resolves the hepatic disease, post-LT complications may occur, including severe enteropathy and graft steatosis caused by impaired bile acids handling by the native intestine. Surgical biliary diversion (SBD) is commonly used to alleviate these complications but may result in long-term morbidity, such as fat-soluble vitamin deficiency and essential fatty acids malabsorption. We report a PFIC1 patient who developed post-LT protein-losing enteropathy, initially managed with SBD. While effective, SBD led to severe fat malabsorption requiring intravenous lipid supplementation. After initiation of ileal bile acid transport inhibitor (IBATi) therapy, SBD was surgically reversed without recurrence of enteropathy. This case highlights IBATi as a potential alternative to SBD and as a strategy to reverse prior surgical interventions and improve quality of life.
Objectives:Intestinal malrotation with midgut volvulus can cause a particularly severe form of pediatric intestinal failure and is often a cause of ultra-short bowel syndrome (SBS), with longer dependence on parenteral nutrition. While malrotation can be found in several genetic syndromes, most occurrences of this condition are not associated with any identifiable genetic conditions or syndromes. This study aimed at identifying specific genes associated with this phenotype in humans. Methods:Children with a history of SBS due to malrotation with midgut volvulus were identified. Children with SBS due to multiple diagnoses, with non-midgut volvulus, or with an identified genetic syndrome were excluded. Whole-genome sequencing (WGS) was performed on the proband and their biological parents. Results:Twenty-three families provided consent to be enrolled in the study, and WGS was obtained from 21 complete families (proband and two parents). Two patients had variants in the glutathione S-transferase theta 4 gene (GSTT4). Two patients had variants in the coiled-coil domain-containing 175 gene (CCDC175). Two patients had a de novo heterozygous variant in the WW domain-containing binding protein 4 gene (WBP4). Three patients had de novo heterozygous likely pathogenic variants in TFRC, which encodes the transferrin receptor. Conclusions:We identified four genes of potential interest in the etiology of malrotation and midgut volvulus, suggesting that the condition may be genetically heterogeneous. While the genes of interest identified have not yet been shown to be involved in the pathophysiology of this condition, they provide important areas for further investigation.
Recurrent episodic abdominal pain and vomiting, with symptom-free intervals between attacks, represent common and often challenging presentations in children, typically leading to extensive workups without a clear etiology, as standard diagnostic algorithms fail to include rare systemic conditions. We present the challenging diagnostic odyssey of a pediatric patient (symptom onset at age 4 years; diagnosis at age 8), culminating in an unexpected diagnosis of hereditary angioedema, a critical etiology often omitted from differentials. This case underscores a key gap in current clinical pathways and serves to expand the diagnostic consideration for specialists managing unexplained recurrent episodic abdominal symptoms.
Celiac disease (CeD) and type 1 diabetes (T1D) often coexist. The burden of concomitant conditions may predispose CeD patients to impaired adherence to a gluten-free diet (GFD), but the factors predisposing to dietary lapses remain unclear. We compared the baseline characteristics and follow-up data between adherent and nonadherent CeD children with a dual diagnosis (n = 69). Overall, 72% were found to be adherent, while 28% were nonadherent. Adherent patients were detected significantly more often in annual CeD screening than by symptoms, whereas the groups did not differ in sex, familial risk for CeD or T1D, presence of other diseases, age at T1D and CeD diagnoses, or time between diagnoses, severity of clinical symptoms, or duodenal lesion at CeD diagnosis, or CeD autoantibody levels at diagnosis or during treatment. Dietary adherence is suboptimal in CeD patients with concomitant T1D, but a CeD diagnosis via systematic screening does not predispose to this.
Objectives:Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor-like membrane protein (CLMP) and Filamin A (FLNA) genes. Clinical features are not well described; therefore, we aim to improve patient care by evaluating diagnostic approaches and identifying prognostic factors through the analysis of published cases. Methods:We performed a systematic review of cases published between 2000 and 2024. Results:Genetic analysis in 35 of the 61 CSBS cases revealed a CLMP mutation in 57.1%, FLNA in 25.7%, and others in 17.1%. Consanguinity was common with 42.4%. Nine families had affected siblings. Most cases were term births with normal birth weight. The first symptoms occurred after a median of 0.6 weeks, mostly vomiting and diarrhea. Median (range) small bowel length was 50.0 (20-85) cm. Comorbidities included malrotation in 87.2%. Nearly all cases required parenteral nutrition (PN), with 60% achieving enteral autonomy after a median follow-up of 15 months. Nine children died before the age of 2 years, six due to sepsis. No intestinal malignancy was reported. Conclusions:CSBS presents shortly after birth with the majority of affected cases achieving enteral autonomy in infancy, which may lead to an underestimation of incidence rates. Radiological imaging can be used to determine bowel length for diagnostic purposes and to initiate genetic counseling. Genetic testing is essential for mutation-specific prognosis and patient management. Complications associated with PN pose the greatest risk for adverse outcomes.
Foreign body ingestion is a common occurrence in young children and may present with a wide range of nonspecific symptoms. Diagnosis can be challenging, particularly when the ingestion is unwitnessed and imaging studies are inconclusive. We present a case of a child with recurrent hospital admissions for respiratory symptoms that did not improve with standard management, along with repeated choking episodes that led the family to rely solely on milk feeds and avoid solid foods. Despite normal chest X-rays and magnetic resonance imaging findings, upper gastrointestinal endoscopy revealed an aluminum soda-can cover lodged in the upper esophagus.
Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease characterized by esophageal dysfunction and eosinophilic inflammation. Persistent dysphagia despite histologic remission should prompt evaluation for alternative etiologies. A 10-year-old male with asthma and eczema presented with progressive solid food dysphagia, daily non-bilious emesis, and weight loss. Endoscopy confirmed EoE, with up to 35 eosinophils per high-power field. Despite proton pump inhibitor therapy and dairy/soy elimination, symptoms worsened, and requiring hospitalization. Repeat endoscopy showed distal eosinophilia and narrowing, initially presumed fibrostenotic, and requiring dilation. Treatment was escalated to dupilumab and enteral nutrition. Subsequent endoscopies showed histologic remission but persistent narrowing and dysphagia despite serial dilations. Esophagram raised concern for abnormal transit and retained food. Endoluminal Functional Lumen Imaging Probe and esophageal manometry diagnosed type II achalasia. Following pneumatic dilation of the lower esophageal sphincter, dysphagia resolved. This case highlights the importance of considering motility disorders in refractory EoE symptoms.
Plummer-Vinson syndrome (PVS) is characterised by the triad of dysphagia, iron-deficiency anaemia, and proximal oesophageal webs. While well described in adults, paediatric cases remain exceptionally rare, particularly in sub-Saharan Africa. We report a 10-year-old boy from Côte d'Ivoire, presenting with progressive dysphagia of 3 years' duration and severe iron-deficiency anaemia (haemoglobin 6.0 g/dL) with neither haemoglobinopathy nor ova or parasites. Upper gastrointestinal endoscopy demonstrated a semi-circumferential post-cricoid oesophageal web; with normal surrounding mucosa and histology. Endoscopic balloon dilation combined with weight-based oral iron supplementation co-administered with ascorbic acid resulted in complete clinical and haematological recovery, sustained at 1-year follow-up. This case underscores the importance of recognising iron-deficiency anaemia associated with dysphagia in children. Combined endoscopic dilation and appropriately dosed iron supplementation with ascorbic acid are effective. Increased awareness and access to endoscopic evaluation are essential to ensure timely diagnosis and effective management in low-resource African settings.
Objective:Standardising parenteral nutrition (PN) care for preterm infants is recommended to enhance safety, outcomes and efficiency, however implementation at scale remains challenging. In 2021, Ireland scaled-up a standardised parenteral nutrition (SPN) system comprising SPN formulations and dosing protocol. We evaluate national scale-up to identify contextually relevant factors to optimise implementation. Methods:A sequential explanatory mixed-methods process evaluation was conducted. Phase 1 comprised a cross-sectional survey of healthcare professionals (HCPs) across nine neonatal units (NUs), alongside analysis of PN purchasing data. Phase 2 included a focus group with the national implementation team and semi-structured interviews with HCPs from three NUs. Qualitative data were analysed using framework analysis guided by the Consolidated Framework for Implementation Research. Results:For Phase 1, we analysed 158 survey responses (27.6% response rate). All NUs had adopted the SPN system; 95% HCPs reported 'Always' or 'Often' using the protocol. SPN accounted for 95% of PN purchased nationally, increasing from 56% pre-implementation. Usability and sustainment scores were significantly higher among trained HCPs (p = 0.026; p < 0.001). Protocol adaptations were reported by 21%, and 16% reported receiving no training. Phase 2 (1 focus group; 16 interviews) developed seven themes describing factors influencing scale-up. Key enablers included the perceived relative advantage of the intervention and strong national networks. Barriers included local policy misalignment, limited evidence in specific populations and hierarchical decision-making. Conclusion:Scale-up of SPN interventions is achievable in practice, however contextual factors influenced how the intervention was used. System-level infrastructure including training and ongoing monitoring is required to optimise implementation and equitable sustainment.
Objectives:To elucidate the natural history of liver disease and identify the predictors of native liver survival (NLS) in a Brazilian cohort of children with Alagille syndrome (ALGS). Methods:Multicenter retrospective cohort study of children with ALGS. Descriptive statistics summarized clinical data. Overall survival was estimated using Kaplan-Meier curves. NLS was analyzed with competing risk models. Associations between laboratory parameters and NLS were tested using Pearson's chi-square. Results:From 14 Brazilian reference centers, 120 children (52.5% male) were included, with mean age at diagnosis of 17.8 months and a median follow-up time of 88.5 months. Most presented characteristic facies (89.9%), jaundice (88.2%), pruritus (87.9%), and neonatal cholestasis (79.2%). Thirty percent underwent liver transplantation (LT) and 6.7% died. Jaundice, xanthomas, hepatomegaly, splenomegaly, and presence of excoriations were significantly associated with the need for LT or death. Direct bilirubin (DB) > 6 mg/dL, cholesterol >300 mg/dL, increased aspartate aminotransferase (AST) > 5 times the upper limit of normal (ULN), and AST-to-platelet ratio index (APRI) > 1 were associated with a significantly increased risk of LT or death, with hazard ratios of 18.2 (p < 0.001, 95% confidence interval [95% CI] = 5.1-64.5), 3.4 (p = 0.016, 95% CI = 1.3-9.2), 3.9 (p = 0.018, 95% CI = 1.2-12.4), and 10.2 (p = 0.013, 95% CI = 1.3-82.2), respectively. Conclusions:The main clinical manifestations included characteristic facies, jaundice, and pruritus. Higher rates of LT or death were associated with jaundice, xanthomas, hepatomegaly, splenomegaly and presence of excoriations. Higher rates of NLS were associated with DB levels below 6 mg/dL, cholesterol levels below 300 mg/dL, AST levels <5x ULN, and an APRI < 1.
Crohn's disease (CD) is a chronic inflammatory bowel disease (IBD) that can often be misdiagnosed, particularly in the female population. This is especially true in the initial stages, which are frequently characterized by weight loss and, at times, dietary intake restriction. We present the case of a patient who experienced a misdiagnosis of anorexia nervosa (AN), leading to significant diagnostic delay (DD) of approximately 8 months and failure to initiate timely treatment. Greater awareness among clinicians and the early utilization of non-invasive markers, such as fecal calprotectin, could significantly aid in achieving an accurate diagnosis right from the disease's onset.
Peutz-Jeghers syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps and mucocutaneous hyperpigmented freckles, whereas Crohn's disease (CD) is a condition characterized by chronic intestinal inflammation. Here, we present a rare case report of an 11-year-old male who presented with both CD and PJS. To our knowledge, this is only the fifth case report describing both of these diseases in the same patient. While CD is relatively common in industrialized countries, having CD in conjunction with PJS is exceedingly rare. This paucity of data describing the coexistence of the two conditions in the same patient has led to a general lack of guidance and screening recommendations in patients with both of these diseases. It is known that each disorder alone increases a patient's risk of malignancy; however, more data are needed to determine the appropriate cancer screening algorithm for patients with these dual diagnoses as well as management approaches.
Children with autism spectrum disorder (ASD) often experience sensory sensitivities and procedural anxiety, which can complicate sedated esophagogastroduodenoscopy (EGD). Transnasal endoscopy (TNE) is a less invasive, unsedated alternative, but data on its use in this population are limited. We evaluated the safety, tolerability, and clinical utility of sedation-free TNE in adolescents with Level 1 ASD (mild autism) undergoing surveillance for eosinophilic esophagitis (EoE). In this retrospective case series, five adolescents (mean age 13.2 years; 80% male) underwent TNE between April 2024 and April 2025. We assessed procedural success, adverse events, biopsy adequacy, and behavioral strategies. All procedures were completed successfully without sedation or serious adverse events. Child Life Specialists (CLSs) supported 80% of cases, using behavioral aids, such as virtual reality (VR) goggles and desensitization tools. Mean procedure time was 10.75 ± 1.96 min. We concluded that TNE is a safe and feasible alternative to sedated EGD in carefully selected adolescents with mild ASD and warrants further study in larger cohorts.
Myeloid sarcoma (MS) is an extramedullary tumor of myeloid precursor cells, frequently associated with acute myeloid leukemia (AML), and rarely occurring in isolation. We present a child with obstructive jaundice secondary to a pancreatic head mass. Initial imaging was consistent with pancreatic hematoma; however, continued symptoms led to endoscopic ultrasound (EUS)-guided biopsies that raised concern for autoimmune pancreatitis. Further histological and cytogenetic analysis confirmed pancreatic MS associated with a RUNX1::RUNX1T1 fusion. Bone marrow evaluation was negative by conventional diagnostic methods; however, reverse transcriptase with qualitative real-time polymerase chain reaction (RT-qPCR) detected RUNX1::RUNX1T1 transcripts. Chemotherapy achieved both radiologic resolution and disappearance of RUNX1::RUNX1T1 transcripts within the bone marrow. This represents one of the first reported cases of isolated pancreatic MS in a child, without progression to AML. Our case highlights the diagnostic challenges of pancreatic masses, the underutilization of EUS-guided biopsy in pediatrics, and the use of RT-qPCR for both diagnosis and disease resolution.
