Ankara Bilkent City Hospital, Children’s Hospital
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From stomach to liver: The impact of Helicobacter pylori gastritis on pediatric hepatic steatosis
Objective: The purpose of our study was to examine the association between endoscopically diagnosed Helicobacter pylori (HP) gastritis and hepatosteatosis, and to investigate the correlation between the presence of HP and biochemical and anthropometric measurements in children. Materials and Methods: Patients who were followed up in the Pediatric Gastroenterology outpatient clinic of Kayseri City Training and Research Hospital and underwent esophagogastroduodenoscopy performed by the attending gastroenterologist were evaluated. Patients aged between 2 and 18 years, with a histopathological diagnosis of gastritis, both HP positive and negative, were enrolled in the study. Results: In patients with HP-positive gastritis, the incidence of hepatosteatosis was found to be statistically significantly higher compared to those with HP-negative gastritis (χ² = 22.704; p <0.001). A statistically significant weak positive correlation was found between the density of HP and the grade of hepatosteatosis (rho = 0.344; p <0.001). Conclusion: The HP-positive gastritis in children is associated with the development of hepatosteatosis, and the higher grade of hepatosteatosis in patients with HP-positive gastritis suggests that HP gastritis may impact the development of fatty liver.
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Response to the Letter entitled “Comment on Hypertension in children with congenital adrenal hyperplasia: Prevalence and associated factors”
The RAS/Mitogen-Activated Protein Kinase (MAPK) pathway is a core developmental signaling cascade that regulates proliferation, differentiation, survival, and tissue growth across multiple organ systems. Germline dysregulation of this pathway results in RASopathies. Although the causal variants affect different components of the pathway, they converge on abnormal downstream signaling. This explains why these disorders share a recognizable clinical core despite clear syndrome-specific differences. The most prevalent and well-known entity is Noonan syndrome, while other major subtypes include cardiofaciocutaneous syndrome, Costello syndrome, and Noonan syndrome with multiple lentigines. RASopathies are characterized by distinctive craniofacial features and multisystem involvement. Congenital heart disease is a significant cause of morbidity. Neurodevelopmental difficulties are common across the spectrum and may be particularly pronounced in Cardiofaciocutaneous and Costello syndromes. Short stature, pectus anomalies, scoliosis, and other musculoskeletal findings are also recurrent features. Another important concern is the malignancy risk, which varies significantly by genotype. Although these disorders share a common pathway, genotype-phenotype correlations are increasingly relevant in daily practice. Molecular findings now directly inform risk assessment and long-term follow-up. In parallel, early experience with pathway-directed therapies is beginning to influence the management of selected complications. MEK inhibitors have shown promising results in selected manifestations, particularly hypertrophic cardiomyopathy and refractory lymphatic complications. In this review, we discuss the biological organization of the RAS/MAPK pathway and relate it to the clinical spectrum of RASopathies. We focus on shared and distinguishing phenotypic features, clinically relevant genotype-phenotype correlations, and the emerging role of targeted therapies.
Hepatosplenomegaly in children: A gateway to inherited metabolic disorders
Objective: Hepatomegaly and/or splenomegaly (HSM) are common clinical findings with a broad differential diagnosis, including infectious, hematologic, malignant, and inherited metabolic diseases. Although inborn errors of metabolism (IEM) are rare, they constitute critical and often treatable causes of HSM. This study aimed to evaluate pediatric patients presenting with hepatomegaly and/or splenomegaly for underlying metabolic disorders and to identify diagnostic indicators that may facilitate early recognition and appropriate management of IEM. Materials and Methods: This retrospective study evaluated 223 children presenting with hepatomegaly, splenomegaly, or hepatosplenomegaly between June 2023 and October 2025 at a pediatric metabolic clinic. Only those with genetically confirmed diagnoses of IEM were included in the final cohort. Clinical features and laboratory findings were evaluated. Results: Twenty-seven patients (15.4%) received a confirmed IEM diagnosis. The most frequent disorders were glycogen storage diseases (n=13, 7.4%), followed by Gaucher disease (n=6, 3.4%), acid sphingomyelinase deficiency (n=3, 1.7%), and single cases of Niemann-Pick type C, Mucopolysaccharidosis type II, GM1 gangliosidosis, hereditary fructose intolerance, and galactosemia. Consanguinity was present in 84.6%, and characteristic systemic findings such as hypoglycemia, hyperlipidemia, cytopenias, cholestasis, neurological involvement, or coarse facies served as critical diagnostic clues. Conclusion: Inborn errors of metabolism should be considered in children presenting with hepatomegaly and/or splenomegaly, particularly in the presence of accompanying systemic findings, especially in regions with high consanguinity rates. Recognition of diagnostic clues may facilitate earlier referral, reduce diagnostic delays, and enable timely initiation of disease specific treatments, including enzyme replacement therapy or dietary modification.
Comment on “Hypertension in children with congenital adrenal hyperplasia: Prevalence and associated factors”
Investigation of the relationship between motor performance and sensory processing skills and quality of life in preschool children with type 1 diabetes
Objective: The aim of this study was to examine the relationship between motor performance and sensory processing skills and quality of life in preschool children with type 1 diabetes (T1DM). Materials and Methods: The study included children with T1DM aged between 60 and 78 months. Sociodemographic information of the children was recorded. Motor performance were assessed using the “Bruininks-Oseretsky Motor Competency Test 2 (BOT 2),” sensory processing skills using the “Sensory Processing Scale (SPM) House Form,” and quality of life using the “Children’s Quality of Life Scale (CQL). Results: A total of 20 children with T1DM were included in the study. In the relationship between BOT 2 and CQL, the following BOT 2 parameters were found to be associated with CQL; fine motor sensitivity [physical functioning (r=-0.510, p=0.020), school functioning (r=-0.580, p=0.010), and total CQL score (r=-0.550, p=0.010)], fine motor integration [emotional functioning (r=-0.450, p=0.040), psychosocial health (r=-0.570, p=0.010), and total CQL score (r=-0.520, p=0.010)], hand dexterity [school functioning (r=-0.480, p=0.020)], and bidirectional coordination [physical functioning (r=-0.450, p=0.040)]. A moderately positive correlation was found between physical functionality and the SPM parameters body awareness (r=0.049, p=0.020), planning and ideation (r=0.047, p=0.030), and total SPM score (r=0.450, p=0.040). A moderately positive correlation was found between planning and ideation and the total CQL score (r= 0.440, p= 0.040). Conclusion: In preschool children with T1DM, impairments in motor skills and sensory processing abilities are associated with quality of life. It is recommended to assess motor performance and sensory processing skills in early childhood.
Platelet count and serum potassium: An overlooked link in pediatric thrombocytosis
Objective: Thrombocytosis, particularly in children, can lead to spurious biochemical findings such as pseudohyperkalemia, which may result in unnecessary interventions if unrecognized. This study aimed to evaluate the effect of platelet count on serum potassium levels in children with thrombocytosis and to analyze the association between potassium levels and the etiological factors of thrombocytosis. Materials and Methods: In this retrospective study, 1899 pediatric patients with platelet counts >600×10⁹/L were analyzed over one year. After excluding conditions that could affect serum potassium (e.g., essential thrombocytosis, anemia, polycythemia/leukocytosis, renal or hepatic disease, and hyperbilirubinemia), 1210 cases of reactive thrombocytosis were included. Patients with available serum potassium measurements and follow-up data at 3 and 6 months were assessed. Results: The mean age of the 1210 patients was 2.7±3.4 years, and 54.8% were male. Thrombocytosis was primarily due to infections (71.8%) and surgery, burns, or trauma (28.2%). Platelet counts ranged from 600×10⁹/L to 2.193×10⁹/L, and serum potassium levels from 2.47 to 9.3 mEq/L. Hyperkalemia occurred in 20.4% of patients, increasing with higher platelet counts (16.7% for 600–900×10⁹/L, 29.1% for 900–1000×10⁹/L, and 33.5% for >1000×10⁹/L). Significant decreases in platelet and potassium levels were observed at 3- and 6-month follow-ups (p<0.001). A weak positive correlation was observed between platelet and potassium levels (r=0.187), more pronounced in infection-related cases (r=0.218). Potassium increased by 0.06 mEq/L for every 100×10⁹/L rise in platelet count, with a significant correlation only above 1000×10⁹/L (r=0.196, p=0.038). Conclusion: Pseudohyperkalemia is a common yet overlooked phenomenon in pediatric thrombocytosis. Recognizing the quantitative platelet–potassium relationship can prevent diagnostic confusion and unnecessary treatment.
Atypical presentation of Hodgkin lymphoma with predominant osseous involvement in a 10-year-old child
Hodgkin lymphoma (HL) in pediatric patients typically presents with mediastinal and supradiaphragmatic lymphadenopathy. Predominant skeletal involvement at diagnosis is exceptionally rare and represents a significant diagnostic challenge. We present the case of a 10-year-old child with a 6-month history of progressive weight loss, right hip pain, and gait disturbance. Initial imaging suggested non-malignant orthopedic conditions, but further studies revealed multifocal osteolytic bone lesions. A bone biopsy ultimately confirmed classical Hodgkin lymphoma. A Positron Emission Tomography/Computed Tomography (PET/CT) scan demonstrated intensely hypermetabolic osseous lesions with only minimal, disproportionately mild, nodal disease. Based on the Lugano classification, the patient was classified as Ann Arbor stage IV. The patient exhibited rapid clinical improvement following the initiation of OEPA (Vincristine, Doxorubicin, Etoposide, Prednisone) induction chemotherapy. This case underscores the importance of including lymphoproliferative disorders in the differential diagnosis of unexplained multifocal osteolytic lesions in children and highlights the critical role of timely tissue biopsy.
MSUD presenting with phenylalanine elevation on neonatal screening
Maple syrup urine disease (MSUD) is an inborn error of metabolism characterized by an increase in branched-chain amino acids (BCAAs), resulting from a deficiency in the branched-chain α-ketoacid dehydrogenase (BCKD) enzyme. A 22-day-old asymptomatic male infant was referred to our center following the detection of elevated phenylalanine (PHE) levels in the newborn screening program and was hospitalized with suspected Phenylketonuria (PKU). Blood amino acid analysis revealed a normal PHE level (48.9 nmol/mL), while BCAA levels were markedly elevated: Leucine 824.4 nmol/mL (normal: 48-175), isoleucine 413.1 nmol/mL (normal: 31-105), and valine 683.1 nmol/mL (normal: 83-300). Results confirmed false positive result for PKU diagnosis however, laboratory findings were consistent with MSUD. Phenylketonuria, a preliminary diagnosis made due to high PHE levels in newborn screening, has masked the underlying MSUD diagnosis, and is presented here as an extremely rare phenomenon. This case is reported to underscore a critical gap in our country’s newborn screening program, which does not currently include MSUD. Considering the acute and potentially fatal neonatal presentation of MSUD, our findings underline the need to expand the national newborn screening program to include MSUD.
Factors affecting mortality in patients during postoperative follow-up after cardiac surgery in a pediatric intensive care unit
Objective: Congenital heart diseases (CHD) frequently necessitate cardiovascular surgery (CVS) in pediatric patients. This study aimed to evaluate postoperative complications following CVS and to investigate their association with mortality. Materials and Methods: In this retrospective study, the medical records of 124 patients who underwent CVS and were subsequently monitored in the pediatric intensive care unit were reviewed. Results: Among the 124 patients who underwent cardiovascular surgery, 52.4% (n=65) were male. The median age was 7 months (range, 2–71). Ventricular septal defect closure (n=49) and complete atrioventricular septal defect repair (n=15) were the most frequently performed procedures. Twenty-seven patients had chromosomal anomalies, most commonly Down syndrome. No postoperative complications were observed in 95 patients. The most common complications were atelectasis, arrhythmia, and subcutaneous emphysema. Extracorporeal therapy was administered to 12 patients. Overall mortality was 8.8% (n=11). Preoperative pulmonary hypertension (PHT) was the most common cause of death. Among the deceased patients, additional factors associated with mortality include infection and lower albumin levels, while nitric oxide therapy and intraoperative cardiopulmonary bypass use were also more common, possibly reflecting greater clinical severity. Conclusion: As the use of cardiovascular surgery for CHD continues to increase in pediatric patients, optimizing intraoperative management and promptly identifying postoperative complications are crucial for improving survival outcomes.
Maternal versus paternal rejection in adolescent suicidality: A study in a socioeconomically disadvantaged cohort
Objective: Parental acceptance–rejection is linked to adolescent mental health, yet its distinct maternal versus paternal associations with suicidality in disadvantaged youth remain underexplored. This exploratory study aimed to delineate these specific relationships, examining perceived parental rejection as a predictor for suicidal ideation (SI) intensity, non-suicidal self-injury (NSSI), and psychopathology in a high-risk cohort. Materials and Methods: Forty-six adolescents (82.6% girls; M age = 15.7±1.1 ) hospitalized in an ICU following a serious suicide attempt completed the Parental Acceptance-Rejection/Control Questionnaire and Youth Self-Report. A clinician assessed suicidality using the Columbia-Suicide Severity Rating Scale. Bivariate and multivariate regression analyses were performed to identify key predictors. Results: A clear dissociation emerged between maternal and paternal roles. Greater perceived maternal rejection—particularly indifference and neglect—was significantly associated with higher SI intensity (B = 0.128, p < 0.001), and a perceived lack of maternal warmth correlated with depressive symptoms (r = 0.454, p = 0.002). In contrast, paternal acceptance was unrelated to SI or internalizing problems; however, paternal hostility was significantly associated with externalizing behaviors (r = 0.381, p = 0.013). Additionally, conduct problems were the only significant predictor of lifetime NSSI (OR = 1.125, p = 0.040), and SI intensity predicted a history of multiple suicide attempts (OR = 1.559, p = 0.016). Conclusion: In this high-risk cohort, maternal rejection appeared to be more closely linked to suicidal ideation and internalizing distress, whereas paternal hostility showed a stronger association with externalizing behaviors. These exploratory findings point to the potential value of family-centered prevention approaches that enhance maternal responsiveness and address behavioral dysregulation to help mitigate suicide risk.
Evaluation of awareness and knowledge levels of pediatric residents on tuberculosis
Objective: Data on pediatric residents’ awareness and knowledge of childhood tuberculosis in Türkiye are limited. This study aimed to evaluate the awareness and knowledge levels of pediatric residents regarding childhood tuberculosis at Ankara City Hospital. Materials and Methods: This cross-sectional study was conducted between August and September 2023 among pediatric residents at Ankara Bilkent City Hospital. A 15-item online multiple-choice questionnaire assessed knowledge related to epidemiology and prevention, clinical–laboratory–imaging evaluation, treatment, and prophylaxis of childhood tuberculosis. Incomplete or unsubmitted questionnaires were excluded from the analysis. Results: A total of 172 pediatric residents participated in the study, of whom 72.7% were female. Eighty-six residents (50.0%) were classified as junior and 86 (50.0%) as senior. Senior residents demonstrated significantly higher correct response rates than junior residents regarding incorrect statements about BCG vaccination (53.5% vs. 38.4%, p=0.047), definition of close contact in tuberculosis (91.9% vs. 79.1% p=0.017), interpretation of abnormal PPD values (93.0% vs. 76.7%, p=0.003), microbiological diagnostic methods (80.2% vs. 58.1%, p=0.002), and typical radiographic findings in childhood pulmonary tuberculosis (89.5% vs. 74.4%, p=0.010) (p<0.050 for all). Correct response rates increased progressively with advancing residency year (X2 : 37.295, df:1, p<0.001). Conclusion: Senior pediatric residents demonstrated significantly higher knowledge levels regarding childhood tuberculosis compared with junior residents. These findings highlight the importance of structured and continuous educational programs beginning early in residency and reinforced throughout training. Given the endemic nature of tuberculosis in Türkiye, targeted and regularly updated educational interventions may improve early recognition, diagnostic accuracy, appropriate treatment, and overall clinical outcomes. Future multicenter studies incorporating key domains of tuberculosis knowledge—epidemiology and prevention, clinical–laboratory–imaging evaluation, and treatment and prophylaxis—may help identify regional gaps and guide standardized educational strategies.
Evaluation of clinical, demographic, and echocardiographic characteristics of patients with acute rheumatic fever diagnosed in the secondary care hospital
Objective: Acute rheumatic fever remains a significant cause of morbidity and mortality, particularly in developing countries. According to the Modified Jones Criteria updated by the American Heart Association in 2015, populations with an annual incidence of fewer than 2 new cases per 100,000 individuals are considered low-risk. A nationwide multicenter study conducted in Türkiye reported an annual incidence of 8.8 per 100,000, classifying the country as being within the moderate–to–high–risk category. In this study, we aimed to evaluate the clinical, demographic, and echocardiographic characteristics of patients diagnosed with acute rheumatic fever at a secondary healthcare center. Material and Methods: The clinical and demographic data of patients diagnosed with acute rheumatic fever at Denizli State Hospital between March 2015 and December 2024 were retrospectively evaluated. Patient records were accessed through the hospital’s electronic database. Results: A total of 60 patients were diagnosed with acute rheumatic fever during the study period. The most common presenting complaint was joint pain. Carditis and joint involvement (91.6% and 92.8%, respectively) were the most frequently observed major manifestations, while Sydenham chorea was diagnosed in 30% of the patients. According to the most recently modified criteria, the frequencies of polyarthritis, monoarthritis, and polyarthralgia as major manifestations were similar (30.1%, 28.6%, and 33.3%, respectively). Treatment-related complications included hepatotoxicity in four patients, and epistaxis, peptic ulcer, steroid-induced myopathy, esophageal candidiasis, and hyponatremia in one patient each. Conclusion: Acute rheumatic fever remains a commonly encountered disease in Türkiye. With the recent updates to the Jones Criteria, the proportion of missed acute rheumatic fever cases in moderate-to-high–risk populations is expected to decline substantially. The high frequency and clinical significance of both the disease itself and its treatment-related complications underscore the importance of effective streptococcal eradication and early diagnosis.
Clinical characteristics of juvenile systemic lupus erythematosus: Prepubertal and pubertal onset
Objective: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects multiple organ systems and is characterized by periods of flare-ups and remission. In approximately 15-20% of SLE patients, clinical symptoms onset during childhood or adolescence and are defined as juvenile SLE (jSLE). Age at disease onset has been suggested to influence the clinical phenotype, severity of inflammatory activity, and overall disease course in jSLE. The aim of this study was to compare clinical features and disease course between prepubertal (<10 years) and pubertal (≥10 years) jSLE patients. Materials and Methods: This retrospective, single-center, cross-sectional study was conducted on patients diagnosed with jSLE who were followed up at the pediatric rheumatology clinic between January 2015 and September 2025. Patients included in the study had been diagnosed with jSLE according to the 2012 Systemic Lupus International Collaborating Clinics classification criteria. Results: A total of 54 patients with juvenile-onset SLE were included, of whom 88.9% were female. Patients were grouped according to age at diagnosis: prepubertal-onset jSLE (<10 years) included 9 patients (16.7%), and pubertal-onset jSLE (≥10 years) included 45 patients (83.3%). Fever and elevated C-reactive protein levels were significantly more common in jSLE with pre-pubertal onset, whereas mucocutaneous involvement was more prevalent in jSLE with pubertal onset. Renal, hematological, and neurological involvement, autoantibody profiles, and disease activity and damage index at diagnosis were similar across groups. At the last visit, disease activity was significantly lower in jSLE with pre-pubertal onset. No differences in treatment were observed between age groups. Conclusion: In this cohort, prepubertal-onset jSLE tended to present with more prominent inflammatory features, whereas pubertal-onset jSLE more often showed mucocutaneous involvement. Despite these observed phenotypic differences, cumulative organ damage appeared similar between groups.
The role of essential fatty acid deficiencies in cognitive function among patients with organic acidemias
Objective: Organic acidemias (OAs) are metabolic disorders characterized by enzyme deficiencies that impair amino acid catabolism, leading to metabolic imbalances. Essential fatty acids (EFAs), particularly Omega-3 and Omega-6, are vital for cellular and neurological functions but are often affected by protein-restricted diets used in OA management. The aim of this study was to evaluate the plasma EFA levels in OA patients and explores their clinical relevance. Materials and Methods: A prospective, case-control design was adopted, including 26 OA patients (methylmalonic acidemia, propionic acidemia, isovaleric acidemia, maple syrup urine disease) and 22 healthy age- and gender-matched controls. Plasma EFA levels were quantified via gas chromatography-mass spectrometry. Cognitive and psychiatric evaluations were performed using standardized tests, including DSM-V-TR criteria, Wechsler Intelligence Scale for Children, and other psychometric tools. Statistical analyses assessed the relationships between EFA levels and clinical findings. Results: Organic acidemias patients exhibited significantly lower levels of docosahexaenoic acid (DHA), eicosapentaenoic acid (EPA) + DHA, and Omega-3 compared to controls, with higher Omega-6/Omega-3 ratios. Despite these findings, no significant correlations emerged between EFA levels and cognitive or psychiatric outcomes. Conclusion: EFA deficiencies are prevalent among OA patients on protein-restricted diets, underscoring the potential need for targeted nutritional interventions. However, the absence of a direct association with clinical findings suggests multifactorial influences on disease outcomes. Future research should explore the longitudinal effects of EFA supplementation and its role in mitigating neurodevelopmental impairments in OA.
Bone mineral density in pediatric celiac disease: Clinical, biochemical, and serologic profiles—a retrospective cohort study
Objective: The aim of this study was delineate the burden of low lumbar bone mineral density (BMD) in children with CD (celiac disease) and evaluate differences in BMD according to assessment timing and gluten-free diet (GFD) adherence, using concurrent tissue transglutaminase IgA (c-tTG-IgA), and describe accompanying anthropometric and biochemical profiles. Materials and Methods: This retrospective cohort included CD patients (n=123) aged 5–18 years who underwent dual-energy X-ray absorptiometry (DEXA) between January 1, 2022, and December 31, 2024. Age-adjusted and height-adjusted BMD z-scores (BMD-AAz and BMD-HAz) were calculated. Patients were grouped as diagnosis or follow-up (≥12 months), and follow-up was subdivided into GFD-non-adherent follow-up group (FU-NonAdh) and GFD-adherent follow-up group (FU-Adh). Results: Low BMD based on BMD-HAz (≤−1) was present in 37.4% (osteopenia 24.4%; osteoporosis 13.0%). Compared with diagnosis group, follow-up group had higher BMD-AAz and BMD-HAz (p=0.022 and p=0.011). BMD-HAz was higher in FU-Adh group than in diagnosis and FU-NonAdh group (p<0.001 and p=0.005), whereas FU-NonAdh group did not differ from diagnosis group. The low BMD group had a lower body mass index (BMI) z-score and shorter GFD duration (p<0.001 and p=0.010). Serum calcium levels were lower in the osteoporosis group than in the normal BMD group (p=0.003). Conclusion: Lumbar BMD impairment is frequent in pediatric CD, with the most evident improvement in the GFD-adherent follow-up group. In secondary analyses, lower BMI z-scores and shorter GFD duration were observed in children with low BMD, which may help inform risk stratification.
Pediatrik bir kohortta RASopatilerin klinik ve moleküler spektrumu: Tek merkezli retrospektif bir çalışma
Objective: Noonan syndrome (NS) and related RASopathies are genetically heterogeneous disorders caused by dysregulation of the RAS/MAPK signaling pathway and are characterized by overlapping clinical features, including distinctive craniofacial appearance, growth impairment, congenital heart defects (CHD), and variable neurodevelopmental involvement. Comprehensive molecular characterization is essential for accurate diagnosis and genotype–phenotype correlation. Evaluation of well-characterized single-center pediatric cohorts may provide clinically relevant real-world insight into genotype–phenotype relationships within routine practice. The aim of this study is to delineate genotype–phenotype correlations in a well-characterized pediatric cohort. Materials and Methods: This retrospective single-center study included pediatric patients between January 2022 and September 2025 with molecularly confirmed diagnosis of NS and related RASopathies. Clinical, laboratory, and imaging findings were reviewed. Targeted next-generation sequencing of RASopathy-associated genes was performed. Detected variants were interpreted according to American College of Medical Genetics and Genomics guidelines, and segregation analysis was conducted when available. Results: The cohort comprised 20 pediatric patients from 19 unrelated families, with a mean age of 6.1 years. CHD was identified in 80% of patients, most commonly pulmonary valve stenosis (65%), while cardiac involvement was not universal. Short stature was observed in 65% of cases and represented the most frequent reason for referral. Disease-associated variants were identified in nine different genes, with PTPN11 being the most frequently affected (40%), followed by LZTR1 (15%), NF1 (10%), and RAF1 (10%). Most variants were classified as pathogenic or likely pathogenic, whereas a limited number were categorized as variants of uncertain significance. Integrated interpretation incorporating phenotype–genotype concordance and segregation data supported the potential clinical relevance of selected uncertain variants. Conclusion: This pediatric cohort highlights the marked clinical and genetic heterogeneity of NS and related RASopathies. The absence of cardiac involvement in some patients underscores the limitations of phenotype-based assessment alone. Comprehensive molecular testing remains critical for accurate diagnosis, refinement of genotype–phenotype correlations, and appropriate long-term management.
Sitomegalovirüs pnömonisi olan bağışıklık sistemi normal olan çocukların klinik özellikleri: Tek merkezli retrospektif kohort çalışması
Objective: Cytomegalovirus (CMV) pneumonia in immunocompetent children remains underrecognized, and standardized diagnostic criteria are lacking. We aimed to describe the clinical characteristics of immunocompetent children with CMV pneumonia and to evaluate the relationship between bronchoalveolar lavage (BAL) fluid and serum CMV DNA loads and laboratory results. Materials and Methods: In this retrospective cohort study, medical records of 62 immunocompetent children who underwent flexible bronchoscopy for recurrent pneumonia or persistent wheezing between November 2023 and January 2025 were reviewed. CMV pneumonia was defined by detection of CMV DNA in BAL using real-time polymerase chain reaction (PCR). Quantitative CMV DNA load in BAL and serum were expressed as international units per milliliter (IU/mL). Demographic, clinical, laboratory, and radiological findings were recorded. Correlations between CMV DNA load in BAL and serum and blood indices were analyzed. Results: Twenty patients (32.2%) were diagnosed with CMV pneumonia. The median age was six years (1.5-9.7), and 55% were male. The most common presenting symptom was chronic cough (85%). Patchy consolidation was the most frequent radiographic finding (45%), while chest computed tomography most commonly demonstrated consolidation (55%), often with bilateral (70%) and multilobar involvement (70%). Serum CMV PCR was positive in six patients (30%). No significant correlation was observed between BAL CMV DNA load (median; 2650 IU/mL; IQR; 311-16874) and serum CMV DNA load (median; 700 IU/mL; IQR; 443-2650) (p > 0.963). BAL CMV DNA load showed a strong positive correlation with serum monocyte count (r = 0.861, p<0.001) and mean platelet volume (MPV) (r = 0.759, p < 0.001). Eleven patients (55%) received intravenous ganciclovir at 5 mg/kg/per dose twice daily for 21 days, and demonstrated clinical and radiological improvement without documented significant adverse effects. Conclusion: BAL CMV PCR demonstrated a higher detection rate than serum CMV PCR in immunocompetent children with recurrent pneumonia or persistent wheezing. Elevated monocyte count and MPV may reflect CMV-related pulmonary inflammation.
Hypertension in children with congenital adrenal hyperplasia: Prevalence and associated factors
Objective: Congenital adrenal hyperplasia (CAH) is a group of inherited disorders of adrenal steroidogenesis that may predispose affected patients to hypertension through both disease- and treatment-related mechanisms. Although hypertension represents an important comorbidity in CAH, its prevalence and contributing factors in the pediatric population, particularly across different CAH subtypes, remain incompletely defined. The aim of this study was to evaluate the prevalence and determinants of hypertension in patients with CAH. Material and Methods: This retrospective, single-center study included 143 children and adolescents aged 1–21 years with a confirmed diagnosis of CAH who were followed at a tertiary pediatric center. Blood pressure measurements obtained during routine outpatient visits were evaluated according to age-, gender-, and height-specific pediatric reference values. Patients were classified by CAH subtype, and demographic, clinical, and treatment-related characteristics were compared between patients with and without hypertension. Correlations between blood pressure levels and clinical parameters were analyzed. Results: A total of 143 patients with CAH (female-to-male ratio, 1.38) were included, with a median follow-up duration of 111.33 months (IQR; 144.70). Hypertension was diagnosed in 15 patients (10.5%). The prevalence of hypertension differed significantly according to CAH subtype (p<0.001), with the highest rate observed in patients with 11β-hydroxylase deficiency (88.8%), followed by those with 21-hydroxylase deficiency (8.4%). No cases of hypertension were observed in other CAH subtypes. Patients with hypertension received significantly higher hydrocortisone doses compared with normotensive patients (p=0.012), while fludrocortisone dose did not differ between groups. Blood pressure levels showed strong correlations with age at last visit and moderate correlations with follow-up duration and body mass index. Hypertensive cardiomyopathy was detected in 40% of hypertensive patients and was more frequent in those with 11β-hydroxylase deficiency. Conclusion: Hypertension is a relevant clinical finding in children with CAH and is closely associated with disease subtype, particularly 11β-hydroxylase deficiency. Long-term follow-up, regular blood pressure monitoring and careful evaluation of glucocorticoid exposure may be important for cardiovascular risk assessment in this population.
The changing etiology of NICU-Admitted neonatal viral pneumonia: A multiplex RT-PCR era snapshot
Objective: Viral pathogens are an important cause of lower respiratory tract infection (LRTI) leading to hospitalization in neonates and young infants. This study evaluated the etiologic distribution, clinical course, and management of multiplex RT-PCR–confirmed LRTI among neonatal intensive care unit (NICU) admissions. Materials and Methods: Between September 2022 and November 2023, neonates admitted to the NICU with LRTI and a positive respiratory viral panel (multiplex RT-PCR) were retrospectively analyzed (n=44). Disease severity at admission was assessed using the Downes score. Demographics, seasonality, respiratory support, treatments, and outcomes were recorded. Correlations between Downes score, oxygen requirement (FiO₂), and length of stay were examined. Results: Median age at admission was 17 days (range: 1–45). Admissions peaked in January (29.5%) and November (18.1%). The most common presenting findings were respiratory distress/tachypnea, cough, and feeding difficulties. Median Downes score was 2 (range: 1–8) and median FiO₂ requirement was 31% (range: 25–45%). Respiratory support was required in 32 infants: mechanical ventilation in 11.4% (n=5), non-invasive ventilation in 22.7% (n=10), and supplemental oxygen in 38.6% (n=17). The most common agents were SARS-CoV-2 (n=22; 50%) and respiratory syncytial virus (RSV) ( n=14; 31.8%). Downes score correlated positively with FiO₂ (r=0.39, p=0.008) and length of hospital stay (r=0.42, p=0.004). Oseltamivir was administered to three infants with influenza. Median length of stay was 6 days (range: 2–56) and no mortality occurred. Conclusion: In this multiplex RT-PCR era snapshot, SARS-CoV-2 and RSV predominated among NICU-admitted neonates and young infants with viral LRTI. Management was primarily supportive, and admission Downes score may help anticipate oxygen requirement and hospitalization duration.
Transcatheter atrial septal defect closure in children weighing ≤15 kg: A single-center experience
Objective: The aim of this study was to assess the feasibility, safety, and outcomes of transcatheter atrial septal defect (ASD) closure in children weighing ≤15 kg, a group in whom transcatheter intervention is often deferred due to limited evidence and perceived procedural risks. Materials and Methods: This retrospective single-center study included 34 children weighing ≤15 kg who underwent transcatheter ASD closure. Demographic, echocardiographic, procedural, and post-procedural follow-up data were analyzed. Results: The mean age was 4.14±1.16 years, and the mean ASD diameter on transthoracic echocardiography was 10.41± 2.96 mm. The median balloon-sized ASD diameter was 14.30 mm (IQR: 12–17). All procedures were performed using Amplatzer Septal Occluder devices, with a 100% procedural success rate. The mean pulmonary artery pressure was 19.50±5.01 mmHg, and median pulmonary vascular resistance was 0.97 Wood units (0.44-1.20). A transient episode of supraventricular tachycardia occurred in one patient (2.94%), with no device embolization or other major complications observed. In most patients, right ventricular dimensions normalized and no residual shunt was observed by the first postoperative day. Conclusion: Transcatheter ASD closure in carefully selected children weighing ≤15 kg appears to be a safe and effective procedure, achieving high procedural success and low complication rates comparable to those observed in heavier patients. Early right ventricular remodeling and the absence of major adverse events further support the feasibility of this approach in appropriately selected cases.
A comprehensive clinical and microbiological profile of culture-positive urinary episodes in children with acute lymphoblastic leukemiaurinary leukemia
Objective: This study aimed to assess the frequency, causative microorganisms, antimicrobial resistance patterns, and unusual clinical and laboratory findings of culture-positive urinary episodes throughout the entire chemotherapy course in pediatric patients with Acute Lymphoblastic Leukemia (ALL). Material and Methods: We reviewed the medical records of 93 pediatric ALL patients who completed BFM-based chemotherapy protocols between 2019 and 2025. A total of 1265 urine cultures were analyzed. Culture positivity was defined as ≥105 colony-forming units per milliliter (CFU/mL) of a single or two different pathogens. For retrospective analysis, contamination was defined by a negative control culture within 48–72 hours or clinical resolution without antibiotic treatment. Data on urinalysis, neutropenia status, and antibiotic resistance were collected. Results: Forty-eight patients (51.6%) experienced a median of two culture-positive episodes. Incidence was highest during intensive treatment phases (induction, reinduction). Escherichia coli was the most common agent (39.8%), followed closely by Klebsiella pneumoniae (36.7%). Overall ESBL positivity was 26.6%. A concerning 30.6% of K. pneumoniae isolates showed carbapenem resistance. Standard urinalysis was found to be unreliable, with 71.4% of positive cultures lacking typical findings; leukocyturia was only present when the absolute neutrophil count was relatively preserved. Three cases of urosepsis (3%) were identified, all involving highly resistant organisms. Conclusion: Pediatric ALL patients, particularly during intense chemotherapy, face a high burden of culture-positive urinary episodes and a notable shift towards multidrug-resistant non-E. coli pathogens like K. pneumoniae. The unreliability of standard urinalysis in this immunocompromised population necessitates the routine collection of urine cultures during febrile neutropenia workups, irrespective of symptoms, to ensure timely, targeted therapy guided by local resistance data. The observed extreme resistance profile appears to be a transient reflection of the intensive chemotherapy environment.
Bronchoalveolar lavage: A key tool in pulmonary fungal infection management
Objective: Bronchoalveolar lavage (BAL) is a widely used diagnostic tool for evaluating lower respiratory tract infections and pulmonary pathologies in children. BAL provides valuable diagnostic information and can significantly influence management strategies, particularly in patients with malignancy, immunodeficiency (ID), or critical illness. This study aimed to assess the diagnostic and therapeutic value of BAL in pulmonary fungal infections. Material and Methods: This retrospective study analyzed BAL samples obtained by flexible fiberoptic bronchoscopy (FFB) between 2019 and 2024 in the Pediatric Pulmonology Department of a tertiary referral center. Among 668 patients who underwent FFB, those with BAL fungal culture, BAL Aspergillus DNA PCR, and BAL galactomannan antigen (GM) testing were included. Demographic, clinical, radiological, and bronchoscopic findings, as well as antifungal treatment modifications based on BAL results, were evaluated. Results: BAL results from 668 patients were reviewed. Fungal culture was performed in 236 (35.3%), Aspergillus DNA PCR in 127 (19%), and GM in 121 (18.1%) patients. Among those tested for fungal culture, 58.9% were male, with a mean age of 7.0 years (±5.7). Fungal culture positivity was found in 26 (11%) patients: Candida albicans (n=14), Aspergillus spp. (n=5), Candida dubliniensis (n=3), Aspergillus fumigatus (n=3), and Penicillium spp. (n=1). Culture positivity was significantly higher in patients with malignancy (p=0.011). BAL Aspergillus DNA PCR was positive in two patients, and BAL GM in five. Based on BAL results, antifungal therapy was modified in seven patients. Conclusion: BAL fungal culture, BAL GM, and Aspergillus PCR testing are valuable diagnostic tools for pulmonary fungal infections in children, especially those with malignancy or immunodeficiency (ID). The observed treatment modifications following BAL results emphasize their clinical importance not only in establishing diagnosis but also in guiding and optimizing antifungal therapy.
Radiological evaluation of Chiari 1 malformation: Diagnostic findings and postsurgical imaging
Objective: Chiari 1 malformation is a congenital anomaly characterized by downward displacement of the cerebellar tonsils through the foramen magnum. Surgical decision-making in Chiari 1 largely depends on clinical symptoms and imaging findings, particularly the presence of headache and syringohydromyelia. This study aimed to evaluate the radiological characteristics and postoperative imaging changes in pediatric patients with Chiari 1 and Chiari 1.5 malformations. Material and Methods: This retrospective study included 101 pediatric patients (age range; 1–18 years) diagnosed with Chiari 1 or Chiari 1.5 based on brain and cervical spine MRI findings between November 2022 and April 2025. Clinical and radiological data, including tonsillar descent, syringomyelia, craniovertebral junction anomalies, and basal angle measurements were analyzed. Twenty-one patients underwent posterior fossa decompression and postoperative MRIs were evaluated at 3 and 6 months. Statistical analyses were performed using chi-square, Mann–Whitney U, Wilcoxon signed-rank, and McNemar tests, with p <0.050 considered significant. Results: Among the 101 patients, 52 (51%) were female, and 49 (49%) were male (mean age; 11.1±4.9 years). Headache was significantly more frequent in operated patients (66.7% vs. 32.5%, p=0.014). Syringomyelia was also more common in the surgical group (33.3% vs. 3.8%, p <0.001), and tonsillar descent was greater (14.3±5.3 mm vs. 9.5±3.6 mm, p<0.001). No significant differences were found between the groups regarding age, sex, basal angle, or foramen magnum diameter. Postoperative follow-up revealed regression of syrinx dimensions and clinical improvement in all operated patients. Conclusion: Headache, syrinx formation, and greater tonsillar descent are key radiological and clinical predictors of surgical intervention in pediatric Chiari 1. While craniovertebral junction anomalies and hydrocephalus may coexist, they appear less predictive of surgical necessity. Posterior fossa decompression remains a safe and effective treatment in symptomatic pediatric patients, leading to both clinical and radiological improvement.
Anxiety disorder of hypertensive children and burnout levels of their families
Objective: Our study focused on assessing the anxiety levels of children and adolescents being monitored for hypertension (HTN), as well as the burnout levels experienced by their caregivers. Material and Methods: The study included 67 patients, aged 12 and older, who were monitored for HTN as the study group, and 60 children and adolescents, matched for gender and age, without chronic illnesses, were selected from the pediatric outpatient clinic for routine check-ups to serve as the control group. The State Anxiety Inventory (STAI-1), Trait Anxiety Inventory (STAI-2), and Beck Anxiety Inventory (BAI) were applied to the children, while the Maslach Burnout Inventory (MBI) was applied to their parents. Results: We found the mean STAI-1 scores of the study group lower than the control group (43.6±6.4 vs. 51.6±15.4; p <0.001). However, no difference was detected between these groups in terms of the STAI-2 scores (p= 0.140). The median BAI scores were higher in study group than control group (10.0 vs.6.5; p=0.010) but no significant difference have been found in terms of severity of anxiety (p=0.170). There was no difference in caregivers between the emotional exhaustion (MBI-EE) and personal accomplishment (MBI-PA) subscale scores of the MBI of the caregivers (p=0.280, p=0.340 respectively). Conclusion: Our study revealed low anxiety levels among HTN patients and low burnout scores in their families. However, we believe that continuous psychiatric support for both patients and their families may be essential for managing chronic conditions, indicating the need for further research in this area regard.
Recurrent isolated torsion of fallopian tube in premenarcheal 12-year-old girl
Isolated torsion of the fallopian tube is an uncommon event. It is a difficult condition to evaluate clinically and surgery is often necessary to establish the diagnosis. In this case report, a 12 year old female isolated fallopian tube torsion (ITT) -a rare condition in the pediatric age group requiring laparoscopic surgery due to recurrance- is presented with acute pelvic pain, nausea, and vomiting. A diagnostic laparoscopy was performed which confirmed the diagnosis of isolated tubal torsion. Based on this experience as well as other similar reported cases, isolated torsion of the fallopian tube should beconsidered in the differential diagnosis of acute lower abdominal/pelvic pain in the female patient. Prompt surgical intervention may allow for preservation of the tube.
Prevalence and clinical predictors of sleep disturbances in children with seasonal allergic rhinitis
Objective: Seasonal allergic rhinitis (SAR) is one of the most common allergic diseases in childhood and is characterized by nasal congestion, rhinorrhea, sneezing, and itching. Beyond these classical nasal symptoms, SAR may also be associated with sleep disturbances. The present study aimed to determine the prevalence of sleep disturbances in children with SAR and to evaluate potential clinical predictors, including symptom severity, symptom timing, and comorbid allergic diseases. Material and Methods: Children aged 6–16 years with seasonal allergic rhinitis (SAR) who were followed at the Pediatric Allergy and Immunology Department of Ankara City Hospital were enrolled in the study. An age- and demographically matched control group was also recruited. Sleep disturbances were assessed using the Sleep Disturbance Scale for Children (SDSC). SAR severity was classified according to the Allergic Rhinitis and Its Impact on Asthma (ARIA) guidelines, and symptom intensity was further evaluated using a visual analog scale (VAS). Logistic regression analysis was performed to identify independent predictors of SDSC-defined sleep disturbances. Results: A total of 115 children with SAR (mean age: 11.6±3.2 years; 61.7% male) and 115 healthy controls were included. According to SDSC, 43.3% of children with SAR had clinically significant sleep disturbances. Compared with controls, children with SAR had significantly higher SDSC total scores (63.4±15.5 vs. 53.9±12.2; p < 0.001) and higher scores across all subscales. In multivariate logistic regression, an elevated nasal VAS score remained an independent predictor of sleep disturbances (OR: 1.86; 95% CI: 1.06-2.41; p=0.020). Conclusion: Sleep disturbances were more prevalent in children with SAR than in healthy controls, and greater nasal symptom severity was independently associated with impaired sleep quality. Incorporating routine sleep quality assessment into the clinical evaluation of children with SAR may improve disease management and contribute to better overall quality of life.
Feeding problems in preterm infants: Associations with perinatal risks and development
Objective: This study aimed to examine behavioral feeding difficulties in preterm infants compared with term infants and to explore how perinatal risk factors, birth weight, and developmental outcomes are associated with feeding problems in preterm infants. Material and Methods: A total of 107 infants aged 18–24 months were included, comprising 60 preterm and 47 term infants. Feeding behavior was assessed using the Behavioral Pediatrics Feeding Assessment Scale (BPFAS), and developmental status was evaluated with the Bayley Scales of Infant and Toddler Development–Third Edition (Bayley-III). Preterm infants were further classified as small (SGA), appropriate (AGA), or large (LGA) for gestational age and perinatal risk levels were based on National Neonatology Association guidelines. Results: Sociodemographic characteristics were comparable between groups. No significant differences were observed between preterm and term infants across any BPFAS domains, although preterm infants tended to show slightly higher scores. Within the preterm group, Bayley-III composite and subscale scores were not correlated with BPFAS outcomes. However, SGA infants demonstrated significantly higher total frequency, total problem, and poor strategies scores than their AGA and LGA peers (p = 0.021, p=0.023, p=0.032, respectively). BPFAS scores did not differ significantly by perinatal risk classification, though higher values were consistently observed in the high-risk group. Conclusion: Feeding difficulties in preterm infants likely result from the interplay of biological, developmental, and environmental factors. Within this context, SGA infants may be particularly susceptible, with potential implications for later growth and metabolic health. Early identification and holistic, multidisciplinary follow-up that integrates nutritional, developmental, and family-centered care are essential to support healthy feeding patterns and prevent long-term complications.
Social pediatrics internship students’ perspectives on the Covid-19 pandemic’s effects on children
Objective: Social pediatrics evaluates children’s health within the context of society, environment, education, and family, employing a global, holistic, and multidisciplinary approach to child health. Our study aimed to explore the viewpoints and attitudes of fifth-year medical students who completed the Social Pediatrics Internship Education Program regarding the effects of the COVID-19 pandemic on children. Material and Methods: We asked medical students to write about the most common effects of the COVID-19 pandemic on children from their perspective using a Google Form. Subsequently, we employed both quantitative and qualitative methodologies to analyze the responses provided by the medical students. Results: Overall, 246 students voluntarily participated in the study and wrote a total of 1722 items. The medical students predominantly addressed the impact of the COVID-19 pandemic on various facets of children’s well-being, including development, physical activity, community/social dynamics, physical health, mental health, safety, healthcare access and provision, and infectious diseases. Conclusion: This study highlights the ability of medical students who undertook the Social Pediatrics programme to demonstrate empathy and adopt a social pediatrics perspective when examining the impact of COVID-19 on children.
Pediatric unintentional injuries in emergency care: A three-year retrospective study from a tertiary care center
Objective: Pediatric unintentional injuries are a major public health concern, as most are preventable. This study aimed to assess emergency department cases by etiology, demographics, seasonal distribution, and outcomes, to define the regional profile and guide prevention. Material and Methods: This retrospective study included 2524 children aged 0–18 years admitted with unintentional injuries between January 2021 and June 2024. Cases were classified as trauma, poisoning/aspiration, environmental injuries, or other causes. Results: Of the cases, 1454 (57.6%) were male, median age 47 months. Poisoning/aspiration was most common (n=1153; 45.6%), followed by trauma (n=840; 33.2%), environmental injuries (n=473; 18.7%), and others (n=62; 2.4%). Poisonings predominated in 0–5 years, while trauma was more frequent in adolescents. Leading poisoning causes were drugs (n=516; 20.4%) and corrosives (n=441; 17.5%). Carbon monoxide poisoning was notable among environmental injuries (n=267; 10.6%). Most patients were discharged (80.6%), while 14.5% were hospitalized, 3.7% required intensive care, and 5.5% underwent surgery. Mortality and sequelae were each 0.3%. Seasonal variation was evident: poisonings in spring–summer, trauma in summer–autumn, and carbon monoxide in winter. Conclusion: Poisonings were the leading cause in early childhood, while trauma predominated in adolescents. Preventive strategies, including parental education, household safety, and region-specific policies, are essential to reduce morbidity and mortality.