JPGN reports最新文献

Acute severe ulcerative colitis increases the risk for cytomegalovirus (CMV) infection, particularly with the use of immunocompromising medications. We report a case of a 4-year-old with newly diagnosed very early onset inflammatory bowel disease presenting with acute severe colitis refractory to both corticosteroids and infliximab, whose course was complicated by CMV colitis. Clinical remission was achieved with combination salvage therapy of ruxolitinib and vedolizumab. Clearance of CMV was not impaired with this regimen. Initiating combination Janus Kinase inhibition and anti-integrin salvage therapy in the setting of CMV infection and acute severe colitis is not previously described.

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.

Extra-pulmonary tuberculosis accounts for less than 15% of all tuberculosis cases, while intestinal tuberculosis accounts for less than 1% of extra-pulmonary forms of the disease. Abdominal organ involvement is more common, but extension to the ano-perineal region is extremely rare. We report a case of a 13-year-old child with an anal fistula without any other signs suggestive of tuberculosis. Diagnosis was confirmed by histopathological examination of the excised fistula and a positive GeneXpert test on fistula material. The initial work-up ruled out Crohn's disease and other localizations secondary to tuberculosis, so the patient was put on anti-tubercular drugs. Six months after the start of treatment, the lesion had completely disappeared, and no recurrence occurred after 8 months of follow-up. Tuberculosis should generally be considered in the differential diagnosis of anal and perianal fistula despite the rarity of this location. In most cases, treatment is primarily medical, with surgical intervention reserved for complications such as abscesses or persistent fistulas.

A 3-year-old male with chronic abdominal distention, constipation, and severe malnutrition is diagnosed with pediatric intestinal pseudo-obstruction (PIPO) after extensive evaluation that excluded mechanical, malabsorptive, metabolic, inflammatory, and infectious causes. Aside from speech delay, he has a normal neurologic exam. Whole exome sequencing reveals a pathogenic methyl-CpG binding protein 2 (MECP2) variant, suggesting atypical Rett syndrome. Management includes promotility agents and a gastrostomy tube with cyclic feedings of peptide-based formula, leading to resolution of symptoms. This case highlights the diagnostic complexity of PIPO and the need to consider genetic etiologies, including MECP2-related disorders, even in patients with mild neurologic findings. Early genetic testing and multidisciplinary care are essential for diagnosis and management in this atypical presentation of Rett syndrome with manifestation of PIPO.

Dedicator of cytokinesis 8 (DOCK8) deficiency is a rare autosomal recessive primary immunodeficiency. Patients with DOCK8 deficiency typically present at early age with allergic manifestations, cutaneous and respiratory infections, raised immunoglobulin E, and they have an increased risk of developing malignancies. Hematopoetic stem cell transplantation (HSCT) is the only curative treatment for DOCK8 deficiency. We present a female paediatric patient with DOCK8 deficiency who was assessed for HSCT, but underwent liver transplantation fist in view of decompensated liver disease. The patient, unfortunately, succumbed secondary to infectious complications in the post-op period.

Concurrent pediatric autoimmune pancreatitis (AIP) and autoimmune hepatitis (AIH) are rarely reported, and no established pediatric-specific guidelines are available to guide the diagnosis and management of these conditions in children. While AIP and AIH share an underlying autoimmune mechanism of injury, marked by chronic inflammatory changes such as fibrosis, sclerosis, and infiltration of mononuclear cells like plasma cells and lymphocytes, their concurrent occurrence is infrequent, as they remain distinct clinical entities. In this case report, we present a case of concurrent AIH and AIP with treatment challenges secondary to underlying sickle cell disease (SCD) in an 11-year-old female. Herein, we discuss not only the diagnostic challenges faced when determining the cause of cholestasis in a patient with SCD but also the therapeutic strategies adopted throughout the care of this patient.

A 14-year-old male presented with toxic megacolon (TM). Stool culture and rectal biopsies ruled out Clostridium difficile infection and Hirschsprung disease, respectively. Anorectal manometry ruled out anal achalasia as rectoanal inhibitory reflex elicited a normal resting pressure. Colonic motility study showed distal colonic dysmotility and was consistent with a history of chronic constipation and encopresis. He initially underwent a diverting loop ileostomy, which ultimately improved his clinical status and resolved his TM without total abdominal colectomy. Diverting loop ileostomy and antegrade colonic enemas for TM should be considered as an alternative to the standard total abdominal colectomy and end ileostomy in the pediatric population.

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.

Objectives: 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.

Methods: 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).

Results: 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.

Conclusion: 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.

A 17-year-old nonverbal male with autism spectrum disorder (ASD) presented with abdominal pain, diarrhea, and weight loss. Initial workup revealed penetrating Crohn's disease (CD) with an ileosigmoid fistula and abscess. After initial improvement with antibiotics, enteral nutrition (EN), and infliximab (IFX), he developed recurrent abdominal pain and elevation of inflammatory markers. Repeat imaging suggested disease progression, prompting surgical intervention. During ileocecal resection and fistula takedown, a foreign body (the hand of an action figurine) was discovered, likely contributing to bowel obstruction and abscess recurrence. This case highlights the importance of medical and surgical comanagement of penetrating CD, as well as the need to maintain a broad differential diagnosis when new or worsening symptoms arise.