A multicenter registry study on percutaneous electrical nerve field stimulation for pediatric disorders of gut-brain interaction.

OBJECTIVES: Percutaneous electrical nerve field stimulation (PENFS) has demonstrated promise in single-center trials for pediatric abdominal pain-related disorders of gut-brain interaction (DGBI). Our aim was to explore efficacy of PENFS as standard therapy for DGBI in a registry involving multiple pediatric gastroenterology referral centers. METHODS: This was a multicenter, prospective open-label registry of children (8-18 years) undergoing PENFS for DGBI at seven tertiary care gastroenterology clinics. DGBI subtypes were classified by Rome IV criteria. Parents and patients completed Abdominal Pain Index (API), Nausea Severity Scale (NSS), and Functional Disability Inventory (FDI) questionnaires before, during therapy and at follow-up visits up to 1 year later. RESULTS: A total of 292 subjects were included. Majority (74%) were female with median (interquartile range [IQR]) age 16.3 (14.0, 17.7) years. Most (68%) met criteria for functional dyspepsia and 61% had failed ≥4 pharmacologic therapies. API, NSS, and FDI scores showed significant declines within 3 weeks of therapy, persisting long-term in a subset. Baseline (n = 288) median (IQR) child-reported API scores decreased from 2.68 (1.84, 3.58) to 1.99 (1.13, 3.27) at 3 weeks (p < 0.001) and 1.81 (0.85, 3.20) at 3 months (n = 75; p < 0.001). NSS scores similarly improved from baseline, persisting at three (n = 74; p < 0.001) and 6 months later (n = 55; p < 0.001). FDI scores displayed similar reductions at 3 months (n = 76; p = 0.01) but not beyond. Parent-reported scores were consistent with child reports. CONCLUSIONS: This large, comprehensive, multicenter registry highlights efficacy of PENFS for gastrointestinal symptoms and functionality for pediatric DGBI.

A rare cause of infantile achalasia: GMPPA-congenital disorder of glycosylation with two novel compound heterozygous variants.

Achalasia is rare in the pediatric population and should prompt clinicians to consider genetic disorders associated with this condition. While AAA syndrome (also known as Allgrove or Triple A syndrome) is commonly considered, GMPPA-congenital disorder of glycosylation (CDG) should also be in the differential diagnosis. We report a 9-month-old female born to nonconsanguineous parents with achalasia and alacrima found to have two novel compound heterozygous variants in the GMPPA gene associated with GMPPA-CDG. This rare disorder is commonly associated with developmental delay and intellectual disability. We discuss management of this disorder including the importance of confirming a genetic diagnosis and summarize reported cases.

Rapid resolution of colitis related to immunosuppressive medication after infliximab administration.

Immunosuppression is necessary after solid organ transplantation. The non-infectious side effects associated with many of these agents are not well understood. We report a case of colitis, most resembling inflammatory bowel disease, that persisted despite withdrawal of tacrolimus and mycophenolate mofetil and transition to alternative agents. The patient was treated for clostridium difficile without improvement. Endoscopic biopsies demonstrated non-specific inflammation without evidence of active infection. An extensive immunologic and oncologic workup was negative. Ultimately, we trialed the administration of infliximab, a monoclonal antibody that inhibits TNF-alpha receptors that is commonly used in the treatment of inflammatory bowel disease. With infliximab treatment, the patient experienced rapid resolution of his disease and has remained in remission.

Multisystem inflammatory syndrome in children (MIS-C) in pregnancy can mimic new-onset pre-eclampsia: A case report.

Introduction: Pregnant women affected by coronavirus disease 2019 (COVID-19) are at increased risk of severe disease, admission to an intensive care unit, and adverse pregnancy outcomes. In contrast, children typically experience a mild form of COVID-19. Nonetheless, there is a risk of multisystem inflammatory syndrome in children (MIS-C) following a SARS-CoV-2 infection. Case: A healthy 16-year-old, G1P0, presented with MIS-C in the second trimester and was treated with intravenous immunoglobulin. She subsequently developed transient mild hypertension, proteinuria, and transaminitis, which ultimately was thought to be secondary to MIS-C rather than pre-eclampsia. Discussion: MIS-C is an important COVID-19 complication in pediatric patients. This case offers guidance on expectant management of hypertension, transaminitis, and proteinuria during an episode of MIS-C in pregnant patients, as opposed to preterm delivery for a misdiagnosis of severe pre-eclampsia.

Does the Oral-Anal Transit Test Correlate with Colonic Manometry Findings in Children with Refractory Constipation?

PURPOSE: The Oral-anal Transit Test (OTT) is a simple method of obtaining information about colonic transit. We aim to assess the correlation of OTT with the neuromuscular integrity of the colon determined by colonic manometry (CM). METHODS: All patients who had OTT followed by CM were evaluated. Less than 6 of 24 markers remaining on OTT was considered normal. CM was performed per previously published guidelines. A normal CM was defined as at least one High Amplitude Propagating Contraction progressing from the most proximal sensor through the sigmoid colon. RESULTS: A total of 34 patients underwent both OTT and CM (44% male, age 4-18 years, mean 11.5 years, 97% functional constipation +/- soiling, Hirschsprung's Disease). Of normal and abnormal OTT patients, 85.7% (6/7) and 18.5% (5/27) respectively had normal CM. When all markers progressed to at least the sigmoid colon, this was 100% predictive against colonic inertia. Greater than 50% of patients with manometric isolated sigmoid dysfunction had markers proximal to the recto-sigmoid. CONCLUSION: OTT and CM are both valuable studies that assess different aspects of colonic function. OTT can be used as a screening test to rule out colonic inertia. However, the most proximal extent of remaining markers does not predict the anatomical extent of the manometric abnormality, particularly in isolated sigmoid dysfunction.

Predictors of response to proton pump inhibitor therapy among children with significant esophageal eosinophilia.

OBJECTIVES: To determine predictors of histological response to proton pump inhibitor (PPI) therapy among children with significant esophageal eosinophilia (SEE), defined as >or=15 eosinophils per high powered field (eos/hpf) on esophageal mucosal biopsy (EMB). STUDY DESIGN: Response to PPI therapy among children with SEE treated with PPI who underwent repeat EMB was studied retrospectively. Response was defined as <5 eos/hpf on repeat EMB. Characteristics of responders and nonresponders were analyzed. RESULTS: Of 326 patients (ages 1 through 18 years) diagnosed with SEE over a 7-year period, 43 (mean age, 8.5 years; 67% males) met inclusion criteria. After PPI therapy, 17 patients (40%) were responders. There were no significant differences in demographics, presenting symptoms, endoscopic, or histological findings between responders and nonresponders. Among patients with 15 to 20 eos/hpf on EMB, 50% were responders; among patients with >20 eos/hpf on EMB, 29% were responders. Seven of 17 (41%) patients with abnormal pH monitoring and 5 of 11 (45%) patients with normal monitoring were responders. CONCLUSIONS: Forty percent of patients with SEE demonstrated histological response to PPI therapy. None of the clinical characteristics evaluated predicted response, and response was not dependent on results of pH study. The role of PPI therapy in treating SEE warrants further prospective investigation.

Endoscopic cricopharyngeal myotomy for management of cricopharyngeal achalasia (CA) in an 18-month-old child.

A 6-month-old patient presented with dysphagia and failure to thrive. Video fluoroscopic swallow study (VFSS), esophagogastroduodenoscopy, and manometry were diagnostic for CA. A gastrostomy tube was placed at 8 months. Botulinum toxin injection improved symptoms, but within 10 weeks symptoms returned. At 18 months, an uncomplicated endoscopic CPM was performed. A postoperative VFSS demonstrated cricopharyngeal bar resolution. Within 3 months, patient was feeding orally without a G tube. Pediatric CPA treatment options consist of dilation, botox, and transcervical CPM. To our knowledge, this is the youngest patient treated with endoscopic CPM. Intraoperative video and photographs are presented.

Effect of intravenous erythromycin on the colonic motility of children and young adults during colonic manometry.

PURPOSE: Erythromycin is successfully used as a gastroduodenal prokinetic agent. Given the limited available treatments for colonic dysmotility, further investigation into erythromycin's effect on colonic motility is warranted. We aimed to study the effect of erythromycin on colonic motility in pediatric patients with recalcitrant chronic constipation/encopresis and other suspected colonic motility disorders. METHODS: Patients referred for colonic manometry were eligible for enrollment. Fasting motility was recorded for 1 to 2 hours, then erythromycin lactobionate (EL), 3 mg/kg, was administered intravenously, and colonic motility was monitored for 1 to 2 hours after erythromycin. Manometry was then continued per routine. The motility index (MI) of pressure tracings at each pressure transducer was calculated for each patient for a period of 15 and 60 minutes before and after EL infusion. Change in MI was compared by Wilcoxon signed rank test. RESULTS: Twenty patients were enrolled. The most common indication was constipation with encopresis. Seventy percent of patients had normal colonic manometry, and 30% of patients demonstrated a neuropathy. Average MI for the 60-minute period before and after EL infusion were 254 +/- 74 mm Hg/h and 253 +/- 94 mm Hg/h, respectively (P = .55). Average MI for the 15-minute period before and after EL infusion were 64 +/- 23 mm Hg/15 min and 69 +/- 32 mm Hg/15 min, respectively (P = .45). CONCLUSIONS: Administration of intravenous EL resulted in no changes in colonic MI in pediatric patients referred for colonic manometry. Further studies on potential colokinetic agents are warranted in this population of patients.