Background: Magnetic resonance elastography (MRE) has been used to stage liver fibrosis in adults. We aimed to assess the agreement between the Ishak scoring system and magnetic resonance elastography-measured liver stiffness (MRE-LS) in children. This study included all the children who underwent abdominal MRE and liver biopsies between February 2018 and January 2021. The correlation between MRE-LS and Ishak fibrosis stage, MRE parameters, and clinical and biochemical markers affecting this relationship was investigated. Results: A total of 52 patients (31 male; a median age of 11.8 years) were included in the study. The MRE-LS values were significantly different between Ishak fibrosis stages (p = 0.036). With a cut-off value of 2.97 kilopascals, MRE-LS had sensitivity, specificity, PPV, NPV and accuracy values of 90.9%, 82.9%, 58.8%, 97.1%, and 84.6%, respectively, for differentiating mild/moderate fibrosis (F0, 1, 2, 3) from severe fibrosis (F ≥ 4). Although MRE-LS was moderately correlated with Ishak fibrosis score and histological activity index and weakly correlated with aspartate aminotransferase, hepatic steatosis, and R2*, only Ishak fibrosis score was a significant predictor of MRE-LS. MRE-measured spleen stiffness was weakly correlated with the Ishak fibrosis score. Conclusions: MRE has high sensitivity and specificity for evaluating liver fibrosis in children. MRE may be used to evaluate liver fibrosis in pediatric patients.

Background/Objectives: This study aims to identify genetic variants associated with early-onset inflammatory bowel disease (IBD) and to improve diagnostic and therapeutic approaches. In selected monogenic IBD cases, treatment included colchicine, interleukin-1 inhibitors, and hematopoietic stem cell transplantation. Methods: This study included patients with early-onset IBD, defined as IBD diagnosed before the age of 10, who were under follow-up at the Department of Pediatric Gastroenterology, Hacettepe University, and agreed to participate between December 2018 and April 2021. Whole-exome sequencing (WES) was performed prospectively in patients without a prior diagnosis of monogenic disease, while clinical and laboratory data were reviewed retrospectively. Identified variants were evaluated for pathogenicity using standard bioinformatics tools. Results: A total of 47 patients were enrolled, including 33 boys (70.2%) and 14 girls (29.8%). The median age at symptom onset was 36 months (IQR: 10–72), and the median age at diagnosis was 3.7 years (IQR: 1.5–7.6). Crohn’s disease was diagnosed in 53.2% (n = 25), ulcerative colitis in 38.3% (n = 18), and unclassified IBD in 8.5% (n = 4). Monogenic IBD was identified in 36.2% (n = 17) of patients, including nine with Familial Mediterranean Fever and others with glycogen storage disease type 1b (n = 2), XIAP deficiency, chronic granulomatous disease, DOCK8 deficiency, IL10 receptor alpha defect, LRBA deficiency, and NFKB2 deficiency (n = 1 each). A novel SLC29A3 gene variant (c.480_481delTGinsCA, p.V161I) (transcript ID: ENST00000479577.2) was identified in 76.6% (n = 36) of patients. Conclusions: This study underscores the importance of genetic variants in early-onset IBD, particularly MEFV and the novel NFKB2. The frequent detection of the SLC29A3 variant may suggest its potential involvement in the pathogenesis of the disease.

Background: We aimed to evaluate hematopoietic stem cell transplantation (HSCT) related outcomes of patients with severe combined immunodeficiency (SCID). Methods: We retrospectively collected data from SCID patients who were diagnosed, followed up and survived at least 2 years after HSCT. Results: Forty four SCID patients were included in the study. Median age of HSCT and follow-up period after HSCT were 7.1 months and 8.7 years, respectively. Human leukocyte antigen (HLA) identical donors were used in 77.3% (n = 34) of the patients (23 siblings, six fathers, two mothers, three extended family donors), HLA 1-2 mismatched family donors in 11.3% (n = 5), and haploidentical family donors in 11.3% (n = 5). CD3 and CD19 counts were normal in more than 90% and in 45.4% at last follow-up, respectively. Intravenous immunoglobulin (IVIG) could be stopped in 72.7% (n = 32) after HSCT. B+ SCID patients had better CD19 counts than B- (p < .001). T cell numbers, lymphocyte proliferation, IVIG need, immunoglobulin levels, antibody responses did not differ among B- and B+ immunophenotypes. Acute graft-versus-host disease (GVHD) was less in bone marrow transplanted patients (19.4%) than peripheral stem cell (58.3%) transplanted ones (p = .024). There was no correlation between age at transplantation and immune reconstitution. At the last follow-up, 70.2% and 78.3% of the patients had body weight and height above 3(rd) percentile, respectively. Conclusion: The immune reconstitution and the growth were normal in the majority of SCID patients after HSCT. It may be rational to use bone marrow instead of peripheral stem cell, as acute GVHD was less in bone marrow transplanted patients.

Background: Cholelithiasis is a rare disease in infants, and there is limited data on its risk factors and management. Objectives: To evaluate the risk factors, management, and response to medical treatment of cholelithiasis in infants. Methods: Infants diagnosed with cholelithiasis by ultrasound between 2018 and 2023 were retrospectively analyzed. Details of patient history, imaging findings, current symptoms, and treatments were reviewed. Results: Over 5 years, 98 infants were diagnosed with cholelithiasis. Thirty-three (33.7%) were girls, and the most common risk factors were the use of cephalosporin antibiotic therapy in 46.9%, sepsis in 30.6%, total parenteral nutrition in 29.6%, prematurity in 27.6%, congenital heart disease in 18.4%, and genetic disease (Down syndrome diagnosis in seven patients) in 16.3%. Only fifteen patients (15.3%) were symptomatic. Ursodeoxycholic acid (UDCA) treatment was given to 90.8% of patients, but nine of them used it for a short period or irregularly, and regular users were 81.6%. Gallstones disappeared in 46 patients (46.9%), including 14 (30.4%) without using UDCA regularly. The response rate to UDCA treatment was lower in preterm infants (p = 0.004). Gallstone resolution was higher in the nonusers, 14/18 (77.8%) versus 32/79 (40.5%) (p = 0.03). Acute cholecystitis was observed in only four patients; no other complications were noted. No infant required surgical or endoscopic treatment. Conclusions: UDCA should not be used routinely in children, especially infants, except in symptomatic children with a contraindication to surgery or to reduce clinical symptoms. In the absence of symptoms, patients may be monitored clinically.

Fibrous hamartoma of infancy (FHI) is a rare, benign lesion which is commonly seen under two years of age. Clinical and radiological features of FHI can mimic malignant soft tissue sarcomas, it is important to make differential diagnosis. Ultrasound (US) examination reveals heterogeneous echogenicity that can be also suggestive for other soft tissue tumors but newly defined "serpentine pattern" of intervening hypoechoic portions in the hyperechoic mass with poorly defined margins and with poor vascularity is special for FHI. Here we report a 15-month-old-boy with FHI with serpentine pattern on US. He initially presented with a painless mass in his left axilla existing for approximately seven months. The mass was successfully excised and he has been followed for three years without any evidence of recurrence. Fibrous hamartoma of infancy should always be considered in differential diagnosis in children under two years of age with a firm and solitary mass in the axilla especially when US reveals serpentine pattern with poorly defined margins and with poor vascularity. If these clinical and ultrasonographic findings are seen in a child under two years old, surgery can be performed without any additional imaging modalities. Awareness and careful assessment are important in order not to misdiagnose this benign mass for which surgical excision is curative.

Background and Objectives: The objective of this study is to ascertain the predictive criteria for steroid dependence and relapse in patients diagnosed with ulcerative colitis. Additionally, the study aims to provide data that will enable earlier transition to second-line treatment when necessary. Materials and Methods: The study included 62 patients diagnosed with ulcerative colitis between 2018 and 2023, who were followed up at the Department of Pediatric Gastroenterology, Hepatology, and Nutrition at the University of Health Sciences, Izmir Dr. Behçet Uz Children’s Hospital. Demographic data included age and gender at diagnosis, BMI, weight-for-age, and height-for-age. Laboratory parameters recorded were complete blood count, total protein, albumin, CRP, ESR, IgG, IgM, IgA, IgG subclasses, vitamin D, B12, folic acid, and ferritin levels. Results: The study included 62 patients. Thirty-two patients (51.6%) were female. In the univariate regression analysis, there was an inverse correlation between IgM levels and relapse and steroid dependence (p < 0.01, p = 0.03, respectively). Additionally, a relationship was identified between steroid dependence and hemoglobin, hematocrit, white blood cell count, neutrophil count, platelet count, and albumin levels (p = 0.01, p < 0.01, p < 0.01, p = 0.01, p < 0.01, p = 0.03, respectively). There was a significant relationship between MMES and steroid dependence (p < 0.01). MMES was found to be significant in predicting steroid dependence in patients with pancolitis (AUC: 0.75, 95% CI: [0.60–0.90], p = 0.01). Conclusions: We conclude, as for Crohn’s disease, an algorithm or a specific scoring system for ulcerative colitis is needed for the use of anti-TNF drugs as first-line treatment in pediatric ulcerative colitis. The initial severity of the disease appears to be the most important risk factor in terms of steroid dependence. Based on our study and the literature data, a scoring system incorporating parameters such as hemoglobin, hematocrit, WBC, albumin, platelet, and IgM levels, disease involvement type, initial PUCAI score, and MMES would be prudent to adopt.