Gastrointestinal Pathologies in Pediatric Patients With Cystic Fibrosis Undergoing Endoscopy: A Single-Center Retrospective Review Over 15 Years.

Introduction Previous studies have demonstrated an increased incidence of gastrointestinal (GI) pathologies, specifically celiac disease (CD) and eosinophilic esophagitis (EoE), in patients with cystic fibrosis (CF). However, there is minimal data available regarding endoscopic findings in pediatric patients with CF and GI mucosal disease.  Methods A retrospective chart review was performed on patients with CF under 18 years of age who underwent esophagogastroduodenoscopy (EGD) or colonoscopy with biopsy over a 15-year period at our institution. Patient characteristics including assigned sex at birth, CF genetic mutations (if identified), and cystic fibrosis transmembrane conductance regulator (CFTR) modulator use were recorded. Data obtained at the time of biopsy included body mass index (BMI), indication for the procedure, exocrine pancreatic status, visual endoscopic findings, and histologic findings. Results A total of 72 patients with CF were included in the study. 24% (n=17) were found to have abnormal endoscopic biopsy results. EoE (13% of all patients, n=9) and CD (6% of all patients, n=4) were the most common GI diagnoses present on endoscopic biopsy. All 3 patients taking CFTR modulator medications at the time of endoscopy had normal biopsy results. Of the 17 patients found to have abnormal pathology results, 14 (82%) were taking proton-pump inhibitor (PPI) medication at the time of endoscopy. Conclusion This study highlights the probable increased frequency of GI disease in the pediatric CF population. These findings underscore the importance of maintaining a broad differential diagnosis while considering utilization of endoscopy with biopsy in pediatric patients with CF who have GI symptoms.

Flexible Sigmoidoscopy Utility in the Diagnosis of Pediatric Gastrointestinal Disorders.

AIM:  Although flexible sigmoidoscopy (FS) is utilized in children for the diagnosis of pediatric gastrointestinal conditions, such as inflammatory bowel disease and juvenile polyp disorders, the diagnostic yield of FS in pediatric patients is unknown. MATERIALS AND METHODS:  We retrospectively reviewed FS cases in children under 18 years of age over a five-year period at our institution. Indications for the procedure, endoscopic visual findings, histologic findings, final diagnosis, and any management changes based on FS findings were included. RESULTS:  A total of 354 cases were included in the analysis for which 40 cases (11.3%) had abnormal visual findings, 48 cases (13.6%) had abnormal histologic findings, and 13 cases (3.7%) had both abnormal endoscopic visual and histologic findings. Of the 88 cases with abnormal visual and/or histologic abnormalities, only the results of 34 of these FS cases led to a change in management based on endoscopic findings (9.6%). Most patients with a non-diagnostic FS had a final diagnosis of functional abdominal pain; most patients with a diagnostic FS had a final diagnosis of colitis, not otherwise specified. CONCLUSION:  Our findings suggest that FS is not a helpful diagnostic endoscopic intervention in pediatric patients, especially in children with reassuring history and physical exam findings.

"I've never been able to burp": Preliminary description of retrograde cricopharyngeal dysfunction in children.

OBJECTIVE: Retrograde cricopharyngeal dysfunction was recently described by Bastian in 2019 and is characterized by an inability to belch, abdominal or chest pressure, odd gurgling noises, and occasional difficulty vomiting. Symptoms tend to worsen with carbonated beverages. Currently, the recommended treatment is cricopharyngeus muscle botulinum toxin injections. Prior studies have included few pediatric patients within larger datasets comprised primarily of adults. We describe our preliminary experience in pediatric patients, including presenting symptoms, treatment approach, and post-treatment outcomes. METHODS: Retrospective chart review of pediatric patients (aged <18 years) diagnosed with retrograde cricopharyngeal dysfunction based on clinical history by the senior author. Medical records were reviewed for presenting symptoms, prior testing and treatment, details of treatment, and postoperative outcomes. RESULTS: Five patients with average age of 14 ± 4 (3 females, 2 males) were included. Presenting symptoms included lifelong or nearly lifelong inability to burp (n = 5), bloating (n = 5), awkward gurgling noises (n = 3), and worsening of symptoms with carbonated beverages (n = 5). Two patients had prior normal upper endoscopy. All patients underwent cricopharyngeal botulinum toxin injection under general anesthesia, with 25-50 units of botulinum toxin injected to the posterior cricopharyngeus across 4-5 locations. All patients had resolution of symptoms with follow-up of 1.5-10 months. CONCLUSIONS: Retrograde cricopharyngeal dysfunction may be underdiagnosed due to lack of awareness of the condition. Now that the phenomenon of inability to belch has a name and is being reported in the literature, we will likely see more adult and pediatric patients with these symptoms. Pediatric patients may respond similarly to adults. Larger studies with longer-term follow-up and targeted patient-reported outcome measures are needed to characterize disease presentation and treatment outcomes.

Vitamin D deficiency in pediatric patients with cystic fibrosis: associated risk factors in the northern United States.

OBJECTIVES: Cystic fibrosis (CF) is associated with vitamin D deficiency, which can lead to adverse effects including recurrent pulmonary infections and osteoporosis. We longitudinally investigated calcifediol or 25-hydroxyvitamin D (25(OH)D) levels for our pediatric patients with CF based on the time of year as well as vitamin D supplementation dosing ranges for these patients at our CF center. METHODS: We retrospectively evaluated vitamin D deficiency in our pediatric CF center for 2 years (baseline and annually) while evaluating 25(OH)D serum changes based on vitamin D supplementation, seasonality, patient age, and other factors associated with CF. RESULTS: Vitamin D supplementation was noted to be higher than current Cystic Fibrosis Foundation dosing recommendations, and no patient experienced vitamin D toxicity. Seasonality was a strong indicator of 25(OH)D levels, especially during summer or fall. Significantly fewer patients with initially low 25(OH)D levels maintained low levels at the conclusion of the study, suggesting benefit. Older patient age and higher supplemental dosing correlated with significantly lower 25(OH)D levels. CONCLUSIONS: This study suggests that targeted intervention among pediatric patients with CF living in northern latitudes of the United States, especially older children, is needed to prevent vitamin D deficiency.

Endoscopy in the diagnosis of intestinal graft-versus-host disease: is lower endoscopy with biopsy as effective in diagnosis as upper endoscopy combined with lower endoscopy?

BACKGROUND: Graft-versus-host disease (GvHD) causes morbidity and mortality in recipients of hematopoietic stem cell transplantation (SCT). This study assessed the distribution of GvHD in gastrointestinal (GI) biopsies from the upper and lower GI tract in pediatric patients who had undergone SCT and evaluated if there was correlation between biopsy findings and possible extra-intestinal manifestations of GvHD. PROCEDURE: We performed a retrospective chart review for all patients diagnosed with GvHD, who underwent both upper and lower endoscopy. We also reviewed pathology and clinical reports to determine which biopsy sites were diagnostic of GvHD and to evaluate for the possible presence of extra-intestinal manifestations GvHD at the time of biopsy. RESULTS: Twenty patients were identified who had undergone both upper and lower endoscopy for evaluation of GvHD. Patients with GvHD diagnosed on upper endoscopy also had GvHD identified in the sigmoid colon region 100% of the time (positive predictive value [PPV] = 1). In patients that were found to have underlying liver disease, GvHD was diagnosed in the sigmoid colon region 90% of the time (PPV = 0.9). CONCLUSION: Use of sigmoid biopsy for GvHD diagnosis is effective, safe, and less expensive compared to other endoscopic interventions.

Two Cases of Helicobacter pylori-Negative Gastric Outlet Obstruction in Children.

Gastric outlet obstruction (GOO) in children is most commonly caused by idiopathic hypertrophic pyloric stenosis. Prior to proton pump inhibitors and H2 blockers, peptic ulcer disease (PUD) secondary to H. pylori was a cause of GOO. Both patients presented with a history of weight loss, vomiting, and abdominal pain. Their diagnosis of PUD and GOO was made by EGD and UGI. H. pylori testing was negative for both on multiple occasions but still received H. pylori eradication therapy. Patient 1 after failing pharmaceutical management underwent surgery for definitive treatment. Patient 2 underwent six therapeutic pyloric dilations before undergoing surgery as definitive treatment. These cases suggest that GOO secondary to PUD occurs in the absence of H. pylori infection and surgical management can provide definitive therapy.