JPGN reportsPub Date : 2026-08-14DOI: 10.1002/jpr3.70231
Laura Kallio, Sofia Kröger, Riku Tauschi, Oona Kähkönen, Linnea Aitokari, Katri Kaukinen, Laura Kivelä, Kalle Kurppa, Anna Eurén
{"title":"Factors associated with adherence to gluten-free diet in patients with concomitant celiac disease and type 1 diabetes.","authors":"Laura Kallio, Sofia Kröger, Riku Tauschi, Oona Kähkönen, Linnea Aitokari, Katri Kaukinen, Laura Kivelä, Kalle Kurppa, Anna Eurén","doi":"10.1002/jpr3.70231","DOIUrl":"https://doi.org/10.1002/jpr3.70231","url":null,"abstract":"<p><p>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 (<i>n</i> = 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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13473925/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Congenital short bowel syndrome: Clinical aspects by systematic review.","authors":"Barblin Remund, Susanne Schibli, Christiane Sokollik","doi":"10.1002/jpr3.70221","DOIUrl":"https://doi.org/10.1002/jpr3.70221","url":null,"abstract":"<p><strong>Objectives: </strong>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.</p><p><strong>Methods: </strong>We performed a systematic review of cases published between 2000 and 2024.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13470618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148763950","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-08-10DOI: 10.1002/jpr3.70229
Saleh Ibrahim Alsuqayh, Homoud Alhebbi, Mohammad Gaafar Mohammed, Mohammad Alamrani
{"title":"Delayed diagnosis of aluminum soda-can cover impact in the upper esophagus of a toddler: A rare cause of chronic feeding difficulty and recurrent aspiration.","authors":"Saleh Ibrahim Alsuqayh, Homoud Alhebbi, Mohammad Gaafar Mohammed, Mohammad Alamrani","doi":"10.1002/jpr3.70229","DOIUrl":"10.1002/jpr3.70229","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13454969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148709027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-08-07DOI: 10.1002/jpr3.70226
Rasha Abi Radi Abou Jaoudeh, Jose M Garza, Chathruckan Rajendra
{"title":"Type II achalasia unmasked by EndoFLIP and high-resolution manometry in a child with eosinophilic esophagitis.","authors":"Rasha Abi Radi Abou Jaoudeh, Jose M Garza, Chathruckan Rajendra","doi":"10.1002/jpr3.70226","DOIUrl":"10.1002/jpr3.70226","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148690766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-08-03DOI: 10.1002/jpr3.70227
Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara
{"title":"Plummer-Vinson syndrome in a 10-year-old boy from Côte d'Ivoire: An exceptional paediatric case with African context.","authors":"Paul Mike Tayou Mbobda, Hatrydt Guillaume Dimitri Kouamé, Amadou Ouattara","doi":"10.1002/jpr3.70227","DOIUrl":"10.1002/jpr3.70227","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-08-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13430409/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148671900","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Barriers and facilitators to the national scale-up of a preterm standardised parenteral nutrition system: A mixed-methods evaluation.","authors":"Sarah Fenton, Ann-Marie Brennan, Aoife Fleming, Vicki Livingstone, Brendan Murphy, Aileen Murphy, Eugene Dempsey, Ciara Heavin","doi":"10.1002/jpr3.70213","DOIUrl":"10.1002/jpr3.70213","url":null,"abstract":"<p><strong>Objective: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>p</i> = 0.026; <i>p</i> < 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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13425788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148655530","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-07-31DOI: 10.1002/jpr3.70224
Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira
{"title":"The Brazilian Alagille syndrome study: New insights from a multicenter national cohort.","authors":"Elisa Carvalho, Gilda Porta, Irene Kazue Miura, Cristina Helena Targa Ferreira, Luciana Rodrigues Silva, Natascha Silva Sandy, Eleonora Druve Tavares Fagundes, Eliene Oliveira, Aline Falleiros Freitas, Adriana Maria Alves de Tommaso, Regina Sawamura, Melina Utz Melere, Sandra Maria Goncalves Vieira, Renata Belém Pessoa de Melo Seixas, Isadora de Carvalho Trevizoli, Alexandre Rodrigues Ferreira, Adriana Porta Miche Hirschfeld, Renata Pereira Sustovich Pugliese, Cibele Dantas Ferreira Marques, Maria Angela Bellomo Brandão, Raquel Borges Pinto, Leticia Helena Caldas Lopes, Jussara Melo de Cerqueira Maia, Ana Cristina Vieira de Melo, Carolina Sores Silva, Luiza Salgado Nader, Maria Tereza Guiotti, Roberta Vacari Alcântara, Leonardo Resende, Bruno Pereira Ribeiro Rocha, Nilza Maria Medeiros Perin, Adriana Teixeira Rodrigues, Vera Lúcia Baggio Danesi, Gabriel Hessel, Themis Reverbel Silveira","doi":"10.1002/jpr3.70224","DOIUrl":"10.1002/jpr3.70224","url":null,"abstract":"<p><strong>Objectives: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (<i>p</i> < 0.001, 95% confidence interval [95% CI] = 5.1-64.5), 3.4 (<i>p</i> = 0.016, 95% CI = 1.3-9.2), 3.9 (<i>p</i> = 0.018, 95% CI = 1.2-12.4), and 10.2 (<i>p</i> = 0.013, 95% CI = 1.3-82.2), respectively.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13425789/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148655585","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-07-29DOI: 10.1002/jpr3.70219
Sofia Paz, Michelle Higuera Carrillo, Alonso Rafael Echavez Agudelo, Mário Cesar Vieira, Juan Pablo Riveros López, Natali González Rozó, Gustavo Javier Tagliaferro, Fabiola Sánchez Hernández, Catalina Ortiz Piedrahita, Wilson Daza Carreño, Ailim Margarita Carias Domínguez, José Fernando Vera Chamorro, Sabine Krüger Truppel, Maximiliano Fernández Rivas, César Augusto Moreno Serrano, Pablo Torres Córdova, Carlos Marcelo Timossi, Pablo Vásquez
{"title":"Knowledge and practice regarding eosinophilic gastrointestinal disorders other than eosinophilic esophagitis among pediatric gastroenterologists of the Latin American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.","authors":"Sofia Paz, Michelle Higuera Carrillo, Alonso Rafael Echavez Agudelo, Mário Cesar Vieira, Juan Pablo Riveros López, Natali González Rozó, Gustavo Javier Tagliaferro, Fabiola Sánchez Hernández, Catalina Ortiz Piedrahita, Wilson Daza Carreño, Ailim Margarita Carias Domínguez, José Fernando Vera Chamorro, Sabine Krüger Truppel, Maximiliano Fernández Rivas, César Augusto Moreno Serrano, Pablo Torres Córdova, Carlos Marcelo Timossi, Pablo Vásquez","doi":"10.1002/jpr3.70219","DOIUrl":"10.1002/jpr3.70219","url":null,"abstract":"<p><strong>Objective: </strong>Evaluating clinical practices in the management of non-esophageal eosinophilic gastrointestinal disorders (non-EoE EGIDs) among pediatric gastroenterologists in Latin America.</p><p><strong>Methods: </strong>A cross-sectional descriptive study was conducted using a survey distributed via the REDCap platform. A total of 309 pediatric gastroenterologists and trainees from 17 Latin American countries (excluding Nicaragua and Bolivia) participated in the study. Data collection took place between March and May 2024.</p><p><strong>Results: </strong>Sixty-five percent of respondents reported seeing fewer than five cases per year. Only 17.8% consistently collaborate with allergists. While 92.2% perform biopsies in all segments during endoscopy, just 80.9% send specimens in separate containers. Systematic endoscopic monitoring is carried out by 48.9% of practitioners. Ancillary tests such as fecal calprotectin (10.0%) and peripheral eosinophilia (19.4%) are infrequently used. The most common treatment strategies were proton pump inhibitors (44.4%) and elimination diets (40.1%), with systemic corticosteroids (17.4%), viscous budesonide (16.4%), and biologics (11.1%) being less frequently employed.</p><p><strong>Conclusions: </strong>There is considerable variability in clinical practice regarding non-EoE EGIDs across Latin America. These findings underscore the urgent need for consensus-based diagnostic and therapeutic guidelines and highlight the importance of ongoing medical education to improve patient care in this emerging field of pediatric gastroenterology.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148623611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-07-29DOI: 10.1002/jpr3.70203
Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow
{"title":"A preterm neonate with infantile liver failure syndrome 1 due to leucyl-tRNA synthetase 1 gene (<i>LARS1</i>) mutations with a histopathologic phenotype of neonatal hemochromatosis.","authors":"Adrienne Bruder, Naomi Laventhal, Raja Rabah, Jacqueline Meadow","doi":"10.1002/jpr3.70203","DOIUrl":"10.1002/jpr3.70203","url":null,"abstract":"<p><p>We report a case of a premature, growth-restricted female infant with feeding intolerance and coagulopathy, treated initially for sepsis, who progressed to neonatal acute liver failure and end-stage hepatic encephalopathy after a prolonged hospitalization with extensive diagnostic evaluation, and was found by autopsy to have histopathologic evidence of neonatal hemochromatosis in addition to a rare autosomal recessive disorder of infantile liver failure syndrome type 1.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13416567/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148623603","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
JPGN reportsPub Date : 2026-07-27DOI: 10.1002/jpr3.70223
Holly Coffey, Kshitij Arora, Matthew J Giefer
{"title":"A case report of non-syndromic colonic ganglioneuroma in a patient with juvenile polyposis.","authors":"Holly Coffey, Kshitij Arora, Matthew J Giefer","doi":"10.1002/jpr3.70223","DOIUrl":"10.1002/jpr3.70223","url":null,"abstract":"<p><p>Colonic ganglioneuromas in children are rare, particularly without associated hereditary syndromes like multiple endocrine neoplasia (MEN2B), neurofibromatosis type 1(NF1), or Phosphatase and tensin homolog hamartoma tumor syndrome (PHTS). We report a 12-year-old male with a history of juvenile polyposis syndrome (JPS) and segmental colonic resection for high distal disease burden. During surveillance colonoscopy, a solitary ascending colon polyp was retrieved and found to be a ganglioneuroma. Genetic testing showed gl-9 family hypoxia inducible factor 1 and succinate dehydrogenase complex flavoprotein subunit A variants in the patient and MutL homolog 3 and MutS homolog 3 variants in both the patient and his mother. All genes discovered were classified as variants of uncertain significance. There was no genetic or clinical evidence of MEN2B, NF1, or PHTS. This case highlights that JPS is a heterogenous disorder and may involve increased risk of developing unique polyp subtypes which are not typically associated with that condition. Current JPS recommendations suggest that surveillance colonoscopy may be performed every 3 years which may be insufficient in situations involving novel mutations or unknown JPS genetics.</p>","PeriodicalId":501015,"journal":{"name":"JPGN reports","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13403148/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148611557","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}