JPGN reports最新文献

Amebiasis, caused by Entamoeba histolytica, can present diagnostic challenges due to its diverse clinical manifestations and potential for misdiagnosis, particularly in regions with low incidence rates. We report a case of a 9-year-old girl initially diagnosed with inflammatory bowel disease but later confirmed to have amebic colitis. Prompt recognition and treatment with metronidazole led to symptom resolution. This case underscores the importance of considering amebiasis in the differential diagnosis, emphasizing the need for vigilance and thorough history and clinical evaluation to enable early diagnosis and treatment. Improved diagnostic modalities are needed to enhance accuracy and optimize treatment outcomes.

Hereditary angioedema (HAE) is a rare genetic condition caused by deficient or dysfunctional C1 inhibitor protein (C1INH) resulting in episodic angioedema of the skin, upper airway, and gastrointestinal tract. HAE most often presents within the first two decades of life and may cause severe abdominal pain, nausea, diarrhea, and emesis, making it an important diagnosis for pediatric gastroenterologists to consider. Here, we report the case of an 11-year-old boy with a history of Crohn's disease who presented with recurrent episodes of acute epigastric and periumbilical pain despite evidence of endoscopic, histologic, and radiographic remission. These pain episodes lasted 12-48 h, were associated with nonbloody, nonbilious emesis, and prompted several visits to the emergency department. Abdominal exam and imaging were repeatedly unremarkable, and bloodwork was notable only for mildly elevated C-reactive protein (<10 mg/L). Eventually, the patient presented with acute facial edema and was referred to Immunology for workup of suspected HAE. Bloodwork revealed low C4 and C1INH concentration, confirming the diagnosis of HAE type I, and the patient was started on appropriate pharmacotherapy to good effect. This case highlights the importance of investigating alternative diagnoses in patients with adequately treated inflammatory bowel disease who continue to experience gastrointestinal symptoms and exemplifies common gastrointestinal manifestations of HAE.

Hypofibrinogenemia is characterized by low levels of fibrinogen with patients commonly presenting asymptomatically. This report discusses a case of hereditary hypofibrinogenemia manifesting as chronic liver disease in a 2-year-old male who was evaluated for elevated liver enzymes and skin/soft tissue bleeding.

Mesenteric hematomas (MHs) are relatively rare and are characterized by localized bleeding in the mesenteric vascular tree presenting with abdominal pain, vomiting, abdominal distension, masses, and hypotension. We report a case of a MH which was incidentally found in a 10-year-old patient with a new diagnosis of ulcerative colitis (UC). This is the second-ever reported case of MH associated with inflammatory bowel disease to our knowledge, with the first being in an adult female with Crohn's disease. The patient presented with painless hematochezia with unknown etiology and underwent an exploratory laparotomy when a mesenteric hematoma was incidentally found. Further investigation including a computed tomography angiopathy showed findings concerning for inflammatory bowel disease and colonoscopy with biopsy confirmed a diagnosis of UC. We propose that the MH was a result of inflammation which caused microvascular bleeding/thrombotic events. Management strategies including follow-up of resolution is not well delineated in the literature.

Objectives: Despite biological treatments reducing the burden of pediatric inflammatory bowel disease, many patients still require surgery. Data on pediatric patient characteristics and surgical incidence are limited, often based on adult studies. This study aimed to assess the characteristics of pediatric Crohn's disease (CD) at diagnosis and compare surgery rates between two periods (before and after 2019) to understand which patients require surgery.

Methods: We analyzed pediatric CD patients who underwent surgery at CHU Sainte-Justine, Montreal, between 2014 and 2023. Descriptive statistics and the Mann-Whitney U-test were used to compare means, while Kaplan-Meier curves assessed surgery-free survival, with significance set at p < 0.05.

Results: The overall surgery incidence was 5.2/1000 person-years. Surgery rates were lower for patients diagnosed after 2019 than before 2019 (5.6/1000 vs. 14.7/1000 person-years). There were no significant differences in age at diagnosis, CD Paris score, reason for surgery, or disease severity. Among CD patients, surgeries were more frequent before 2019 (11.5% vs. 2.8%, p < 0.001). The reduction in surgery rates since 2019 is likely due to earlier initiation of biologics, with a median initiation of 14 days after 2019 compared to 142 days before 2019 (p = 0.01).

Conclusion: The reduced incidence of surgery in pediatric CD is a significant achievement. Increased use of infliximab, proactive drug monitoring, and better nonresponder management likely contribute to this improvement.

Objectives: The North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition (NASPGHAN) Training Committee conducted a survey of recent fellowship graduates to assess their confidence in procedure performance, disease management, practice habits, and satisfaction with mentorship.

Methods: The survey was developed by the Training Committee members and distributed during the summer of 2023 to fellowship graduates who finished training between 2018 and 2023. Confidence levels regarding treating specific diseases and performing gastrointestinal procedures were assessed, including analysis comparing the data to 2015 survey results.

Results: The response rate was 21% (140/676). Confidence levels in the performance of most procedures and management of most diseases were high. Graduates of smaller programs reported greater confidence in performing percutaneous endoscopic gastrostomy placement and percutaneous liver biopsy. Outstanding research mentorship was reported more commonly with mentors funded via the National Institute of Health (NIH) than non-R/K funded mentors (54% vs. 28%, p = 0.002). Outstanding clinical and career mentorship was similar between large-sized, medium-sized, and small-sized programs. Preparedness for job hunting improved with time (52% vs. 30%, p = 0.005) while preparedness for advocacy work decreased (39% vs. 58%, p = 0.007).

Conclusion: Respondents reported high confidence in many core activities of pediatric gastroenterology. Satisfaction with research mentorship was higher for NIH-funded mentors. Confidence in performing certain procedures declined over time possibly because some centers shifted the responsibility of those procedures to other specialties. Improved confidence in some training-related topics such as job-hunting preparedness coincided with changes made to the curriculum for NASPGHAN's fellows conferences.

Objectives: Children with eosinophilic esophagitis (EoE) may be at heightened risk for developing the eating disorder avoidant/restrictive food intake disorder (ARFID). However, relatively few studies have specifically looked at the prevalence of ARFID in children with EoE. The literature is plagued by varying diagnostic nomenclatures; existing studies have widely variable definitions of both ARFID and EoE. Finally, differentiating symptoms of EoE from those of ARFID can be challenging. The current study describes ARFID and its correlates in children ages 1-18 referred to a speciality EoE clinic.

Methods: One hundred and fifteen children participated in an observational, pilot study. All had confirmed diagnoses of EoE and were referred to a multidisciplinary EoE clinic for ongoing care. All completed questionnaires were collected at the time of the clinic visit.

Results: Thirty-seven percent of patients met criteria for ARFID based on the Eating Disorders in Youth-Questionnaire and clinical interview. Seventy percent of children who were on food elimination only met criteria for ARFID, compared to 36% on medication only and 37% on combined food elimination and medication for EoE treatment. Children with food fussiness, a greater number of immunoglobulin E-mediated food allergies, and low enjoyment of food were more likely to have a comorbid ARFID diagnosis. Youth with EoE and ARFID had a lower quality of life.

Conclusions: A significant percentage of children with EoE referred to a multidisciplinary clinic struggle with the comorbid eating disorder ARFID. Routine screening and assessment should be considered to ensure adequate identification and intervention for this specific eating disorder.

Gastrointestinal dysmotility is commonly reported among patients with Mowat-Wilson syndrome (MWS) and poses a significant symptomatic burden. Unfortunately, there remains a knowledge gap regarding effective treatment strategies. A 2-year-old male with MWS presented with chronic paradoxical abdominal pain, constipation, and progressively restricted oral intake. He was diagnosed with intestinal pseudo-obstruction, due to recurrent transient small bowel intussusception identified on ultrasound. Pyridostigmine, an acetylcholinesterase inhibitor, was successfully used to promote gastrointestinal motility, improving the child's pain symptoms and allowing return to his baseline activities. This case adds to emerging evidence of low-dose pyridostigmine as a viable treatment to consider for children with symptoms related to impaired gastrointestinal motility, by demonstrating its successful use in a child with MWS for the first time.

Prolidase deficiency (PD) is a rare autosomal recessive disorder affecting collagen turnover, leading to diverse clinical manifestations including dermatologic lesions, hepatosplenomegaly, and vascular anomalies. Liver involvement in PD is poorly understood, with few reported cases. We present a child with early-onset non-cirrhotic portal hypertension and PD. The patient initially presented with neonatal hemolytic anemia and hepatosplenomegaly. At age 9, recurrent epistaxis and splenomegaly led to splenectomy. Liver biopsy revealed sinusoidal dilation and parenchymal nodularity, later progressing to esophageal varices. Genetic testing identified pathogenic variants in peptidase-D gene, suggestive of PD, and biochemical testing confirmed the diagnosis. Given suspected vasculopathy, tocilizumab was initiated with clinical improvement. This case suggests a potential link between PD and porto-sinusoidal vascular disorder (PSVD), particularly nodular regenerative hyperplasia. Further research is needed to explore prolidase's role in vascular remodeling and its contribution to PSVD-related liver pathology. Early recognition may improve management and outcomes.

Teduglutide is a glucagon-like peptide 2 (GLP-2) analogue that was approved by the United States Food and Drug Administration for the treatment of pediatric (>1 year) intestinal failure due to short bowel syndrome in 2019. GLP-2 analogues promote rapid intestinal adaptation, increasing the absorptive capacity of residual intestine after surgical resection to aid the achievement of enteral autonomy or reduce parenteral nutrition requirements. Despite relatively few reported side effects, there is a theoretical risk of proliferative complications. Here we present an intriguing case of a pediatric patient found to have a decade-long retained, discontinuous segment of colon from a surgical procedure performed in infancy, which became clinically significant after a period of treatment with teduglutide.