The prevalence of extra-pulmonary tuberculosis (EPT) is rising, often linked to HIV and other immunosuppressive conditions, with limited evidence connecting it to cancer. We present a unique case of a 12-year-old with gastrointestinal tuberculosis and a neuroendocrine tumor. Diagnostic challenges included appendiceal inflammation and confusing radiological findings. Histopathology confirmed granulomas and a neuroendocrine tumor grade 1.
BACKGROUND/AIMS:Endoscopic and histopathological evaluation are important in the diagnosis and follow-up of inflammatory bowel disease (IBD), but they are invasive methods. This study aimed to evaluate the use of ultrasonography (USG), a noninvasive examination, in diagnosing and monitoring children with IBD. MATERIALS AND METHODS:The study included IBD and non-IBD patients who underwent a prospective diagnostic colonoscopy. After colonoscopy, bowel wall thickness (BWT) of the patients was measured using USG. Ultrasonographic, endoscopic, histological, and laboratory findings were then compared. RESULTS:Of the 62 patients who underwent colonoscopy, 25 (40.3%) were female. The mean age of the patients was 14.7 ± 3.5 years. Forty-three (69.4%) patients were diagnosed with ulcerative colitis, 12 (19.4%) with Crohn's disease. Seven (11.3%) patients had normal colonoscopy findings. The BWT of the terminal ileum, left colon, and sigmoid colon were significantly higher in children with IBD. The BWT cut-off was detected as 2.55 mm in the terminal ileum, 3.35 mm in the right colon, 2.5 mm in the left colon and 2.25 mm in the sigmoid colon. When BWT in the terminal ileum and left colon increased, histopathological inflammation was significantly detected. A moderate positive correlation was observed between the C-reactive protein, erythrocyte sedimentation rate, and platelet values and the BWT values. CONCLUSION:Ultrasonography can be useful in the diagnosis of IBD patients. Specifically, BWT was found to be particularly sensitive and specific during the inflammatory period.
BACKGROUND AND STUDY AIMS:A third subtype of inflammatory bowel disease (IBD) is indeterminate colitis (IC). The clinical course of IC has not been well defined in children. The aim of this study was to evaluate the outcomes of children with IC during the follow-up period. PATIENTS AND METHODS:All data were retrospectively reviewed in children diagnosed with IC in our center between 2010 and 2022. Patients' demographics, family history, laboratory findings at diagnosis, serologic immune markers, and clinical findings were noted. RESULTS:Among 185 children diagnosed with IBD between 2010 and 2022, 29 (15.7 %) were classified as having IC. Sixteen patients (55.1 %) were male. A concomitant autoimmune disease was present in seven patients (25 %). Five of the seven patients with additional autoimmune diseases were female. Among the patients with IC, 14 (48 %) had pancolonic involvement in colonoscopy at the time of diagnosis. During follow-up, extraintestinal features of IBD manifested in four (13.7 %) patients, three (10.3 %) patients with arthritis, and one patient (3.4 %) with arthritis and psoriasis. Six patients (20.6 %) harbored pathogenic variants in IBD-related genes, including NOD2 (n = 2), IL10RA (n = 1), and Mediterranean fever (MEFV) (n = 3). Two patients were reclassified as having ulcerative colitis (UC) and Crohn's disease (CD) during follow-up. CONCLUSION:The detection of significant genetic mutations in one-fifth of the patients highlights the need for genetic evaluation, particularly in those with additional autoimmune conditions. Close monitoring of patients in this regard is crucial to ensure the success of treatment and to address any potential complications arising from immune-related issues. More comprehensive studies are essential in this context to understand the course of the disease and improve patient care.
Objective: This study aimed to evaluate the state and trait anxiety levels of mothers whose children were referred to a pediatric gastroenterology outpatient clinic, to identify associated sociodemographic and clinical factors, and to compare these findings with those of mothers of healthy children.Methods: This prospective, comparative, observational study enrolled 98 mothers whose children were attending the pediatric gastroenterology clinic for the first time, and 101 mothers whose children were healthy and served as controls. Data were collected on demographic characteristics, clinical features, symptom duration and diagnoses. Maternal anxiety levels were assessed using the Spielberger State-Trait Anxiety Inventory (STAI). The diagnostic groups were categorised as organic gastrointestinal disorders, functional gastrointestinal disorders, and malnutrition.Results: The patient and control groups were comparable in terms of maternal and child age. However, working status and educational level were significantly lower among mothers in the patient group (p < 0.001). Mothers in the patient group had significantly higher STAI-Trait scores (49.2 ± 6.8 vs. 46.3 ± 5.4; p = 0.001). STAI-State scores were higher, though not significantly so (p = 0.114). Among diagnostic subgroups, anxiety levels did not differ significantly. STAI-State scores showed a negative correlation with child age (ρ = −0.349, p < 0.01). Maternal employment was significantly associated with lower state anxiety (B = −4.33, p = 0.037), whereas education was not associated with either anxiety domain. The duration of symptoms did not correlate with any maternal anxiety parameter. Additionally, no significant associations were found between diagnostic category and either state or trait anxiety.Conclusion: Mothers of children attending pediatric gastroenterology clinics exhibit significantly higher levels of chronic anxiety. Younger child age and an absence of maternal employment were associated with higher situational anxiety. These findings emphasize the importance of incorporating routine psychological screening and supportive interventions into pediatric gastroenterology settings.
Objective: Pediatric intestinal pseudo-obstruction (PIPO) is a rare, severe, and heterogeneous gastrointestinal motility disorder associated with intestinal failure, recurrent hospitalizations, and significant morbidity and mortality. This study aimed to evaluate the clinical features, management strategies, and long-term outcomes of children diagnosed with PIPO at a tertiary referral center. Methods: This retrospective single-center study included pediatric patients diagnosed with PIPO between 2011 and 2025. Diagnosis was established according to ESPGHAN consensus criteria. Demographic characteristics, clinical presentation, genetic findings, nutritional support, surgical interventions, intestinal transplantation, and long-term outcomes were retrospectively reviewed. Results: A total of 32 patients with PIPO were included, of whom 56.2% were female and 43.7% had early-onset disease. Genetic testing was performed in 22 of 32 patients; clinically significant variants were identified in 16 (50% of the total cohort), most commonly ACTG2 mutations. Prior abdominal surgery before referral was present in 84.3% of patients. During follow-up, 56% remained parenteral nutrition dependent, five patients underwent intestinal transplantation, and the overall mortality rate was 21.8%. Conclusions: PIPO is a highly heterogeneous disorder associated with substantial morbidity, prolonged nutritional support requirements, repeated surgical interventions, and significant mortality. Early diagnosis, genetic evaluation, multidisciplinary management, and timely referral to specialized intestinal failure and transplantation centres are likely to support more individualised management and may help prevent avoidable complications in affected children.
Background and Objectives: Catheter-related bloodstream infections (CRBSIs) are one of the most severe complications in children with intestinal failure (IF) who require long-term parenteral nutrition (PN). Taurolidine–citrate solution (TCS), with proven antimicrobial and antibiofilm properties, has been proposed as a promising alternative to heparin locks for preventing infection. The aim is to evaluate the efficacy and safety of the TCS in reducing the rates of CRBSI and pathogen-specific infections in pediatric patients with indwelling central venous catheters (CVCs) who are receiving PN. Materials and Methods: This retrospective study included 48 pediatric IF patients treated at an intestinal rehabilitation and transplantation center in Türkiye. Patients received either TCS or heparinized saline (0.9% saline solution containing 100 IU of heparin) as a catheter lock. Infection data were extracted from medical records and expressed as events per 1000 catheter days. Group comparisons were performed using non-parametric tests, and Poisson regression was applied to calculate rate ratios (RRs) and 95% confidence intervals (CIs). Adjusted rate ratios were obtained from a Poisson regression model that included the following variables: age, sex, diagnosis category, ostomy status, catheter type, and follow-up duration. Log(catheter-days) was incorporated as an offset term. Overdispersion was assessed and not detected. Results: The crude CRBSI rate was lower in the TCS group than in the heparinized saline group (29.4 vs. 42.8 per 1000 catheter days), though this difference was not statistically significant (p = 0.383). However, after adjustment by Poisson regression, TCS use was significantly associated with reduced infection rates (adjusted RR = 0.78, 95% CI = 0.70–0.87, p < 0.001). TCS use was also significantly associated with reduced rates of Gram-positive (RR = 0.78, p = 0.006), Gram-negative (RR = 0.48, p < 0.001) and fungal (RR = 0.63, p < 0.001) infections. No adverse events were observed among the TCS group. Conclusions: Standardized TCS lock therapy effectively and safely reduces CRBSIs in pediatric patients with IF, particularly those caused by Gram-negative and fungal organisms. These results support the use of TCS as a prophylactic option for preventing infection in long-term CVC use.
Background: Leucine rich α-2 glycoprotein (LRG) is a glycoprotein that is an acute-phase protein produced by neutrophils, macrophages, hepatocytes, and intestinal epithelial cells. This study aimed to determine the serum LRG (s-LRG) and urine LRG (u-LRG) expression levels in children with inflammatory bowel disease (IBD) and evaluated their correlation with clinical disease activity, other inflammatory markers, laboratory results, and endoscopic activity scoring. Methods: This prospective observational study was conducted at a tertiary centre and included children aged 2–18 years with IBD. Clinic activity scoring was used to assess clinical disease activity. Haemoglobin levels, platelet counts, albumin, C-reactive protein, and erythrocyte sedimentation rate were analysed in the blood sample. LRG levels were measured in both blood and urine samples. The endoscopic assessment was scored according to the simple endoscopic score and Mayo endoscopic score. Serum and urine LRG levels were measured using commercial enzyme-linked immunosorbent assay kits. Disease activation was defined based on clinical activity scoring, laboratory results, and endoscopic evaluation. The results were compared between the active IBD and remission groups. Results: Forty-two (50%) patients with active IBD and forty-two (50%) patients in remission were included in this study. The serum levels of LRG were elevated in the patients with active IBD compared with the levels in the patients with IBD in remission (p = 0.020). However, there was no difference in the u-LRG level between the two groups (p = 0.407). In patients with IBD, positive correlations were observed between s-LRG, platelet count, C-reactive protein (CRP), and the erythrocyte sedimentation rate. The serum LRG was negatively correlated with albumin and haemoglobin levels. Urine LRG was not correlated with s-LRG in any patients with IBD included or in patients with active IBD. The cutoff value for s- LRG (77.03 μg/mL) had a sensitivity and specificity of 40.4% (95% CI 25.6–56.7%) and 88.1% (95% CI 74.3–96.0%), respectively. It was found that s-LRG was a more significant parameter than CRP in predicting disease activation. Conclusions: This prospective study demonstrated that the s-LRG level is a useful biomarker for predicting disease activation in children with IBD and appears to be a more significant parameter than the CRP level. However, the u-LRG level is not effective in predicting disease activation in children with IBD.
Waardenburg syndrome is a genetic disease characterized by hearing loss and pigmentation abnormalities. Waardenburg syndrome type 4 is very rare, and children with Waardenburg syndrome type 4 present with intestinal aganglionosis. The associated findings and severity of Waardenburg syndrome type 4 may also differ significantly between cases. Intestinal insufficiency is probable and creates difficulties in terms of treatment; intestinal transplant may be required. In this case report, we present 4 cases of patients with Waardenburg syndrome who have intestinal issues, 2 of whom underwent small bowel transplant. Appropriate surgical and nutritional management should be provided for patients with Waardenburg syndrome type 4 who have gastrointestinal manifestations.
The accumulation of lymphatic fluid in the abdomen is defined as chylous ascites. Different causes play a role in the etiology of the disease. Congenital anomalies are the most common cause in pediatric patients. A high protein, low fat diet rich in medium-chain fatty acids should be planned. The first-line treatment is dietary management and is total parenteral nutrition, and the first preferred medical agent is somatostatin. In patients who do not respond to standard treatments, surgical treatment or new limited alternative medical agents are applied. A six-month-old girl presented with a complaint of abdominal swelling was diagnosed with chylous acid. The patient was put on the standard nutritional therapy and somatostatin treatment but did not respond to these treatments. The chylous ascites was controlled with everolimus treatment.
Background/Objectives: Early cow's milk formula (CMF) exposure in the neonatal period has been proposed as a risk factor for cow's milk protein allergy (CMPA), although evidence remains inconsistent. This study evaluated the association between CMF use within the first 72 h and later CMPA. Methods: This retrospective study included 106 CMPA infants and 106 controls. CMPA was diagnosed according to ESPGHAN 2024 guidelines using clinical assessment, a 2-4-week elimination diet, and a supervised oral food challenge. Demographic and feeding data were collected, and logistic regression identified independent predictors. Results: Early CMF exposure was more common in the CMPA group (76% vs. 59%; p = 0.006). Multivariate analysis confirmed early CMF exposure as an independent risk factor (aOR: 2.35; 95% CI: 1.18-4.68). A subgroup with CMF intake limited to the first 72 h followed by exclusive breastfeeding was markedly overrepresented among CMPA cases (47% vs. 12%; p < 0.001). Early CMF exposure did not significantly impact IgE versus non-IgE phenotype distribution. Family history of atopy also remained a strong predictor. Conclusions: Early CMF exposure during the first 72 h and family history of atopy were key risk factors for CMPA. Supporting breastfeeding initiation and avoiding unnecessary early CMF supplementation may help reduce CMPA incidence.
BACKGROUND:A gluten-free diet is currently the only treatment for Celiac Disease (CD). Many factors can affect gluten-free diet compliance. This study aims to evaluate the empathy levels of children with CD and their healthy siblings, the impact of sociodemographic data on dietary compliance, and the emotional and behavioral effects of CD on patients and their siblings. METHOD:The patients who were diagnosed with CD at least 6 months ago and their healthy siblings were included. Healthy children from different families were included as the control group. Sociodemographic data of the CD cases and questionnaire data, including questions about gluten-free diet and compliance, were obtained. A questionnaire including questions about gluten-free diets and CD was administered to their siblings. Bryant Empathy Scale and Strengths and Difficulties Questionnaire (SDQ) were administered to all cases. RESULTS:A total of 153 children were included in the study, with 51 (33.3%) being cases of CD. The comparison of empathy and SDQ levels of the three groups is that CD cases had the lowest empathy. Emotional, behavioral, and social problems were found to be high in the CD cases. The level of maternal education was found to be low in diet-noncompliant CD patients. No significant difference was found in the empathy and SDQ levels of diet-compliant and noncompliant CD patients and their siblings. CONCLUSION:It is seen that empathy levels of patients with celiac disease and their siblings are significantly affected, and emotional, behavioral, and social problems are higher. A low educational level of the mother may be effective in dietary noncompliance.
Objectives: Celiac disease (CD) is an immune-mediated disorder triggered by gluten, often presenting with oral manifestations: dental enamel defects (DEDs) and recurrent aphthous stomatitis (RAS). This study aimed to determine the prevalence of DEDs and RAS in children with CD and to identify the clinical, serological, and histopathological factors associated with their etiology. MATERIALS AND METHODS:Ninety-seven children (6-19 years) with biopsy-confirmed CD and 31 age-matched healthy controls were involved in the study. The CD cohort was stratified by age at diagnosis (<5 years and >5 years) and disease status (newly diagnosed). Data on clinical findings, human leukocyte antigen typing, and biochemical parameters were collected retrospectively. All intestinal biopsies were reevaluated according to the Marsh classification. A single, blinded examiner performed oral examinations to diagnose DEDs and RAS. RESULTS:The prevalences of DEDs (63.9% vs. 16.1%) and RAS (27.8% vs. 22.5%) were significantly higher in the CD group than in controls (p < 0.05). The severity of DEDs was negatively correlated with serum calcium levels (p = 0.022) and positively correlated with the severity of intestinal damage (p < 0.05). A later age at diagnosis was also associated with a higher prevalence of DEDs. RAS was most prevalent in newly diagnosed, untreated patients (47%, p = 0.016) and showed significant remission following a gluten-free diet (p < 0.001). CONCLUSION:DEDs and RAS are significant and common oral manifestations in children with CD. The strong association between DED severity and the degree of intestinal histopathology suggests shared pathogenic pathways. These oral findings can serve as important noninvasive clinical markers in the early detection of undiagnosed CD. .
Aim: The goal of this study was to investigate the expression levels of microRNAs (miRNAs) (miR-196b, miR-10a, miR-31-5p, and miR-338-3p) which regulate the genes involved in the proliferation and function of cells functioning in the inflammatory processes in Celiac patients' blood and tissue samples. Celiac disease (CD) is an inflammatory disease which affects people who are genetically predisposed to gluten consumption. The only treatment for this disease is a gluten-free diet. Materials and Methods: The miRNA expressions were determined in blood and tissue samples from 12 pediatric patients with CD and from 8 healthy children using quantitative real-time PCR (qRT-PCR) and SybrGreen dye. The gene expression levels of miRNAs such as miR-196b, miR-10a, miR-338-3p, and miR-31-5p were compared between the two groups. Results: There was a significant difference only in miR-10a gene expression levels between the control and patient blood samples. The greatest difference between the tissue and blood samples within the CD group were found in the expressions of miR-31-5p and miR-338-3p. It was seen that the patients’ human leukocyte antigen tissue type was not associated with their miRNA expression profiles. In addition, there was no significant correlation between their Marsh classification and gene expression levels. Conclusion: The significantly low level of miR-10a may be related to CD due to its effect on the immune response. Additionally, miR-10a may have potential as a non-invasive biomarker in the diagnosis of CD.
Objective: Celiac disease (CD) is one of the most common autoimmune disorders in which gluten damages the small intestine. The CTLA-4 and FOXP3 genes play an important role in immune tolerance, so it is hypothesized that polymorphisms of these genes may be related to celiac disease. Our study aimed to investigate the associated with celiac disease and the CTLA-4 +49 A/G (rs231775) and FOXP3 -3279 C/A (rs3761548) polymorphisms by comparing celiac disease patients with a healthy control group. Material and Methods: The single nucleotide polymorphisms (SNP) of +49 A/G in CTLA-4 (rs231775) gene and -3279 C/A in FOXP3 (rs3761548) gene were studied by Polymerase Chain Reaction- Restriction Fragment Length Polymorphism (PCR-RFLP) method in 125 pediatric celiac patients and 100 healthy controls. Results: The A and G alleles of the CTLA-4 gene were found more frequently in the celiac patient group than in the control group. In addition, the A and C alleles of the FOXP3 gene were found more frequently in celiac disease patients than in healthy controls. There were no statistically significant results for the two polymorphisms CTLA-4 +49 A/G and FOXP3 -3279 C/A based on genotype or allele frequency (p > 0.05). When analyzing the risk allele, the FOXP3 gene polymorphism -3279 C/A proved to be significant in CD patients (p
Objective Impaired gastrointestinal (GI) mucosa and immunosuppressant therapies increase the risk of secondary infection in patients with inflammatory bowel disease (IBD). This study evaluated the detection of pathogens in children with IBD using a gastrointestinal panel (GP). This is the first study to compare this method with clinical data from pediatric IBD patients. Methods Children with newly diagnosed IBD or experiencing disease flares were included. Demographic data, clinical and laboratory findings, treatments, treatment durations, and disease activity were analyzed. Stool samples were assessed using multiplex real-time polymerase chain reaction with QIAstat-Dx GP (R). Results were compared between groups. Results Thirty-five patients with IBD were included in the study. Routine stool analyses detected rotavirus in one patient and Blastocystis hominis in another, while no microorganisms were identified in stool cultures. GP detected pathogenic microorganisms in 40% of patients, with a higher prevalence among those experiencing IBD flares (71.4%). Detected pathogens included Enteropathogenic Escherichia coli , Campylobacter spp., Enteroaggregative Escherichia coli , Clostridium difficile , and sapovirus. No significant statistical differences were found between positive and negative GP cases in terms of new/previous diagnosis, disease duration, clinical and laboratory findings, disease activity, and immunosuppressive treatment. Conclusion In our study, pathogenic microorganisms that could not be detected by routine clinical tests in patients with IBD could be detected by the GP. Most positive cases occurred in previously diagnosed patients undergoing immunosuppressive therapy. Due to its high cost, GPs should be used selectively, and detected pathogens should be carefully evaluated for clinical relevance.
Objective: Constipation is the infrequent and painful passage of hardened stools, occurring less than three times a week, often accompanied by excessive straining and discomfort. Functional constipation is the most important gastrointestinal complaint of childhood. Limited literature explores the correlation between functional constipation and infant nutrition. Our study aims to investigate the association between maternal and infant nutrition and functional constipation among infants between 1-4 months. Method: The research is a cross-sectional study. Two groups involved cases from the pediatric clinic, which presented complaints of constipation within the age range of 1 to 4 months, and the control group, which consisted of individuals without any reported constipation issues. Mothers participating in the study completed a questionnaire comprising two sections: one focusing on patient assessment and the mother’s diet. Results: The study encompassed seventy-five cases reporting constipation issues, with the control group comprising thirty cases. Functional constipation was most observed at 78 days of age. Children experiencing functional constipation exhibited lower weight and height values, demonstrating statistical significance. Additionally, 94.7% of infants facing defecation challenges had a history of meconium within the first 24 hours of birth. Factors such as alterations in familial defecation patterns and a history of constipation among first-degree relatives were notably higher in the case group. The incidence of functional constipation was notably elevated by cesarean section and those not receiving breast milk. Furthermore, maternal dietary habits indicated higher consumption of milk, fruit juice, yogurt, vegetables, and legumes among the healthy group, with statistically significant disparities observed. Conclusion: Functional constipation in infants can associated with cesarean section, a high number of siblings, low parental education levels, familial history of altered defecation patterns, and constipation among first-degree relatives; additionally, formula feeding, maternal consumption of low-fiber foods, and inadequate fluid intake by the mother.
Background/Aims: Achalasia is a primary motility disorder characterized by a relaxation disorder of the lower esophageal sphincter. In pneumatic balloon dilatation, which is one of the treatment methods, the muscle fibers are torn with an endoscopically inflated balloon in the lower esophageal sphincter. This study aimed to evaluate the results of long-term pneumatic balloon dilatation treatment in our clinic for children diagnosed with achalasia. Materials and Methods: Pediatric patients who underwent pneumatic balloon dilatation with a diagnosis of achalasia in our pediatric gastroenterology clinic between 2016 and 2021 were included in the study. Demographic data of the patients, clinical findings at diagnosis, and follow-up results were evaluated retrospectively. Results: Ten patients who underwent 18 pneumatic balloon dilatation operations were included in the study. The mean follow-up period of the patients was 23.7 ± 14.1 months. It was observed that the procedure was performed once in 3 (30%) patients, twice in 2 (20%) patients, and 3 times in 3 (30%) patients. It is noteworthy that the diameter of the balloon used in the first procedure in patients who needed repeated operations was less than 30 mm. No complications were observed except for chest pain, which was detected in 1 patient. Conclusion: When the patients who needed recurrent dilatation were evaluated, it was noted that the diameter of the balloon in which the first procedure was performed in these patients was smaller. This study is an important contribution to the literature due to the scarcity of the pediatric achalasia data, in which long-term results related to pneumatic balloon dilatation are reported in Turkey.
Objective: The aim of this study was to determine the nutritional status of children and adolescents with inflammatory bowel disease (IBD) in remission and to evaluate their adherence to the Mediterranean diet. Methods: The study was conducted with 43 patients aged 7-18 years in remission with a diagnosis of IBD. The study data were obtained through a questionnaire form by applying the face-to-face interview technique. Three-day food consumption records were taken to evaluate food intake. The Mediterranean Diet Quality Index (KIDMED) was used to evaluate patients' adherence to the Mediterranean diet. Body composition analysis and some anthropometric measurements of the patients were made by the researchers. Biochemical parameters were recorded from the patient file. Results: It was determined that 18.6% of the patients were overweight or obese, 4.7% were very thin, and 4.7% were stunted and 14% were short according to the height-for-age Z-score. According to KIDMED scores, 27.9% of the patients were classified as 'poor', 65.1% 'moderate', 7% 'good'. It was determined that 41.9% of the patients had cytophobia. There was no statistically significant difference in biochemical and anthropometric parameters according to the Mediterranean diet compliance (p>0.05). The daily energy, fiber, vitamin B6, vitamin E, vitamin C, folate, potassium, calcium, magnesium, zinc and iron intakes of the patients were quite below the requirement. Conclusion: This study showed that children with IBD in remission are at high risk of stunting, overweight and obesity rather than underweight are common, and adherence to the Mediterranean diet is low.