JPGN reports最新文献

An infant with biliary atresia had normal-range ('low') serum gamma-glutamyltranspeptidase (GGT) activity, exceptional because GGT generally is elevated in biliary atresia. Mechanisms underlying low-GGT cholestasis in biliary atresia are not defined, but the phenomenon is associated with worse clinical outcome. Testing in our patient revealed no variants in genes mutated in several disorders also associated with poor prognosis and with low-GGT cholestasis; indeed, at age 14 months she has stable disease with unremarkable biomarker values. Nonetheless, we recommend extended investigations in such patients, including genetic testing, to detect coexistent disorders and to expand understanding of GGT in biliary atresia.

Exploratory laparotomy in neonates is typically performed via a transverse laparotomy incision. However, this incision may be complicated by poor cosmesis and scar contracture. In three patients, primary gastroenterologists identified significant scar contractures that resulted in pain and limitations with physical activity, necessitating surgical referrals. All patients required subsequent surgical revision of their scar, which involved creation of skin flaps, repair of abdominal wall hernias if present, and reapproximation of the subcutaneous tissue. We describe this phenomenon and the resultant need for surgical management to raise awareness of these late complications and suggest subcutaneous tissue reapproximation should be performed when possible during abdominal wall closure.

Idiopathic myointimal hyperplasia of the mesenteric veins (IMHMV) is a rare entity reported in adults, frequently mimicking inflammatory bowel disease (IBD). We report the first case of intestinal ischemia secondary to IMHMV presenting as IBD in a pediatric patient with Down syndrome. Chronic intestinal ischemia is rare in children, and this case emphasizes the need to consider this in the differential, when histopathology is suggestive. Clinical findings and colonoscopy in these patients may mimic IBD. The mucosal biopsies do not show classic features of IBD. Instead, there can be variable extent of mucosal changes such as dilated small capillaries in the lamina propria, edema, and early fibrosis. These changes may in fact represent early chronic ischemia. These findings should alert for vascular imaging and a full-thickness biopsy to assess submucosal and subserosal larger vessels since medium- and large-caliber veins in the colonic wall and mesentery are affected in IMHMV.

Objectives: Payer mandates have resulted in children with inflammatory bowel disease (IBD) switching from originator Remicade® (O-Rem) to an infliximab biosimilar (B-IFX). Patients and families are fearful of switching because disease has been well controlled on O-Rem. Real-world data documenting clinical outcomes after such switches in pediatric patients are limited. The aim of this project was to examine 1 year of follow-up in a large adolescent/young adult IBD cohort who changed from O-Rem to B-IFX.

Methods: We identified patients with IBD at Connecticut Children's receiving O-Rem for at least 1 year, who were either in clinical remission or had low disease activity, and who were subsequently switched to B-IFX. An age, gender, IBD-subtype, and duration since diagnosis cohort that continued on O-Rem was then matched to the switch cohort and served as a comparator group (1: switch vs. 2: no-switch). B-IFX was Inflectra® in all cases.

Results: Two hundred and seventy-nine patients (mean age 18.7 years, Crohn's disease = 243, ulcerative colitis = 36) were studied (switch, n = 93, no-switch, n = 186). Mean time since diagnosis was >6 years in both groups, and mean duration of anti-tumor necrosis factor use was >5 years. There were no significant changes in hemoglobin, albumin, C-reactive protein, erythrocyte sedimentation rate, or disease activity in either group over 1 year. Dosing modifications as well as the frequency of low-level antibodies to infliximab were similar in both groups over the study period.

Conclusion: Switching from O-Rem to B-IFX has no impact on clinical or laboratory parameters over the subsequent year. Clinicians can reliably reassure patients and families that switching is safe.

Incidental diagnosis of asymptomatic appendicitis is exceptionally rare, even more so when identified endoscopically. This is among the first reported cases of appendicitis incidentally diagnosed during colonoscopy in a pediatric patient. Most notably, the identification of subclinical appendicitis allowed for early referral to pediatric surgery for management, which in turn may have prevented progression to acute symptomatic appendicitis.

d-Lactic acidosis is a rare type of lactic acidosis that typically presents in patients with short bowel syndrome (SBS). Clinical features include a high anion-gap metabolic acidosis and acute onset of neurological impairment. The underlying pathology is thought to be due to altered gut flora and carbohydrate malabsorption in patients with altered gut anatomy. The treatment centers on correcting acid-base derangements, dietary modifications to decrease carbohydrate intake and antibiotics. We present a case of recurrent d-lactic acidosis in a patient with SBS. In this unique case, we highlight the importance of considering the home environment when developing a treatment plan.

A 13-year-old female with a history of congenital left lower leg lymphedema, multiple food allergies, including an immunoglobulin E mediated severe cow's milk allergy, and well-controlled moderate persistent asthma was hospitalized with left lower leg erysipelas and Group A Streptococcus septicemia. While hospitalized, immediately after exposure to cow's milk protein as an inactive ingredient within a probiotic, she developed anaphylaxis with respiratory failure requiring intubation. This is only the third reported case of anaphylaxis due to a probiotic. Additionally, it raises issues inherent to the electronic medical record with respect to its inability to identify allergens in supplements as opposed to medications.

Kinetic magnetic sand, composed of ultra-fine sand and dimethicone in a 98%-2% ratio, is a versatile sensory toy known for its moldable properties and structural stability (1). Despite the name, it lacks actual magnetic features. Ingesting kinetic sand can pose risks, including choking and gastrointestinal issues, especially in young children. This case report details a unique incident involving a 3-year-old who ingested a significant amount of kinetic sand. Although the sand's ingredients are generally hypoallergenic and nontoxic, its grainy texture presented challenges for retrieval. The patient was closely monitored, and ultimately, the sand passed without complications. While no official guidelines exist for managing such cases, individual assessments, considering factors such as ingestion time, symptoms, and age, are crucial for determining the appropriate course of action, which may range from observation to more invasive procedures like endoscopy or surgery.

Systemic lupus erythematosus (SLE) is a systemic autoimmune disease that may involve any organ in the body. Inflammation of the bowel wall as a presenting symptom of SLE is uncommon and can lead to delays in diagnosis and treatment. Here, we discuss the case of an adolescent male who presented with weight loss, intermittent fevers, abdominal pain, vomiting, and diarrhea. Initially, inflammatory bowel disease (IBD) was suspected, but endoscopic evaluation did not support this diagnosis. A computed tomography scan of the abdomen revealed signs of serositis, concerning for an inflammatory process and the patient was referred to Rheumatology for further evaluation. Autoimmune serologies were obtained and combined with clinical findings confirmed a diagnosis of SLE. This case advances our understanding of SLE as a multisystemic disease and highlights an unusual presentation involving the gastrointestinal tract, which can mimic IBD and potentially delay the diagnosis and treatment process.

Pediatric macrocytic anemia has a varied etiology, including nutritional deficiencies, such as folate or B12 deficiency, hematological factors, and micronutrient deficiencies, such as copper deficiency. We present the case of a 9-year-old girl with a complex medical history and gastrojejunal tube (G-J tube)-dependent nutrition who developed macrocytic anemia due to copper deficiency. Despite receiving enteral nutrition, her dietary copper intake was insufficient, leading to hematological abnormalities. Copper supplementation resulted in the normalization of hematological indices, highlighting the importance of considering trace element deficiencies in patients reliant on enteral nutrition, particularly in those receiving jejunal feeds. This case underscores the necessity for vigilant monitoring and optimized micronutrient supplementation in such patients given the lack of standardized guidelines for copper supplementation.