JPGN reports最新文献

Kirberg et al. described in 2016 a one-step gastrostomy tube placement, the 'pull-introducer' technique, designed for small-for-gestational-age neonates, combining two endoscopic techniques. Nine infants (weight 3.4-8.1 kg) in our centre required a gastrostomy placement (two infants) or a combined gastrostomy placement and Nissen fundoplication (seven infants). A single-stage balloon gastrostomy was preferred in all cases because of a significant anaesthetic risk. The pull-introducer method was chosen because the commercially available one-step balloon gastrostomy gastropexy devices were considered too large. There were no immediate or long-term complications (except local infection). All nine infants were discharged from the hospital as planned. After 6 months, the balloon gastrostomy tube was replaced with a balloon button or balloon gastrostomy tube.

Genital edema is a rare presentation of Crohn's disease (CD), also known as metastatic CD (MCD). This may precede, co-occur with, or follow gastrointestinal symptoms and present a diagnostic challenge. We aimed to characterize the features, clinical courses, pathogenesis, and outcomes of patients with MCD to increase understanding and promote timely management. A retrospective review of four patients diagnosed with MCD was conducted at Phoenix Children's and Children's Hospital Colorado. Patients presented with painful and painless penoscrotal swelling with and without erythema. Scrotal histopathology revealed granulomatous inflammation, and genetic testing identified pathogenic variants in NOD2, COL7A1, and Chek2, as well as additional variants of uncertain significance. Treatments included antibiotics, steroids, biologics, and methotrexate with mixed responses. Further research and clinical trials are needed to better understand the pathogenesis and develop best practices.

Paediatric-onset inflammatory bowel disease (IBD) has an enormous impact on healthcare systems as it translates to a lifetime of healthcare. Since the approval of anti-tumour necrosis factor-alpha agents, it has become evident that in the long journey of paediatric IBD, there is an absolute need for more treatment options. Emerging evidence from the adult literature suggests that upadacitinib is effective and safe; however, paediatric data are scarce. We present two adolescents with highly refractory to treatment Crohn's disease. One of them had undergone subtotal colectomy. Both patients were treated effectively with upadacitinib.

DGAT-1 (Diacylglycerol Acyltransferase-1) deficiency is an autosomal recessive disorder which causes severe impairment in lipid absorption. We report a case of an infant suffering from persistent diarrhea starting at the age of four weeks. Further investigations identified DGAT-1 deficiency as underlying cause. A treatment plan was developed which included a very-low fat diet administered as infant formula, essential fatty acid supplementation, C8 medium chain triglycerides- and fat-soluble vitamin supplementations. The patient was put into full remission after administration of the treatment plan and weight curves normalized at the 50th percentile at the age of 24 months. Intermittent episodes of loose stools were due to an excessive intake of fructose via extensive fruit consumption. DGAT-1 deficiency is a rare genetic disease which leads to congenital diarrhea and is especially dangerous in infancy. Our treatment plan put the patient into full remission showing that C8 MCT oil should be preferred over treatment with C8/C10 mixtures.

Traumatic bowel injury is an uncommon injury pattern that can have a delayed presentation after an initial trauma hospitalization and present to pediatricians with nonspecific symptoms. This syndrome is often missed and can mimic other common gastrointestinal conditions. Our case presents a previously healthy 16-year-old girl with recent trauma admission who re-presented to the hospital with a presumed superior mesenteric artery syndrome and had a mixed response to initial management. Given persistent symptoms despite standard care, subsequent management consisted of an exploratory laparotomy that led to findings of a strictured segment of the bowel that was resected and led to clinical recovery. These patients can initially present with normal imaging and have an evolving inflammatory-mediated process due to microvascular injury and abscess formation. These injuries should be included in the differential diagnosis of patients with nausea, vomiting, abdominal pain, weight loss, and fever in the setting of recent blunt abdominal trauma.

Gastroesophageal variceal bleeding is the most serious complication of portal hypertension. The interventions available including sclerotherapy, variceal banding, and balloon tamponade, are limited by patient age. A 4-month-old with congenital cytomegalovirus, cholestasis, splenomegaly presented to the emergency room after two episodes of hematemesis. The patient required a transfusion of packed red blood cells for anemia. Upper endoscopy revealed no active bleeding, four grade 3 esophageal varices with red wale signs, and a single gastric varix. Sclerotherapy into high-risk varices was completed. Forty-eight hours later, patient developed re-bleeding. Upper endoscopy revealed bright red blood in the stomach. A large clot at the gastroesophageal junction was attributed to the gastric varix. Given the age of the patient and small size, endoscopic bleeding control interventions were limited. A foley catheter was placed in an orogastric manner for balloon tamponade. The intervention was a temporizing measure to allow for transfer to a liver transplant center.

Ectopic varices are defined as portosystemic venous collaterals occurring in the gastrointestinal tract outside of the cardio-esophageal region. Duodenal varices are not routinely encountered by pediatric gastroenterologists. At the time of this case report, there are no consensus guidelines on the management of bleeding duodenal varices in pediatric patients. This is a case of a 14-year-old young woman with a history of multi-visceral transplantation due to short gut syndrome. The patient had developed duodenal varices near her transplant anastomosis, which were incidentally biopsied on endoscopy causing resultant bleeding that required endoscopic hemostasis. This case highlights the need for recognition of duodenal varices as a potential etiology of gastrointestinal bleeding in children and describes band ligation as an effective hemostatic modality.

This is a prospective, multicenter study of a cohort of 224 cystic fibrosis (CF) patients treated with CF transmembrane conductance regulator (CFTR) modulators (CFTRm). Our aim was to prospectively analyze the effect of CFTRm treatment on fat-soluble vitamin serum levels. Demographic and clinical data were recorded, and fat-soluble vitamin levels were analyzed at baseline, and at 6 and 12 months after starting treatment. Two groups were analyzed separately: patients receiving dual therapy lumacaftor/ivacaftor or tezacaftor/ivacaftor (Lum/Tez+Iva), and those on triple therapy with elexacaftor/tezacaftor/ivacaftor (ETI). We found that treatment with ETI produced a significant increase in vitamin D and A levels within the first 6 months, which was maintained at 12 months. However, with dual therapy, we observed an increase only in vitamin A levels within the first 6 months, which was not maintained at 12 months. No differences were found in vitamin E serum levels between the groups.