Sabriye Gülçin Bozbeyoğlu

Introduction: Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by impaired mucociliary clearance, leading to recurrent airway infections and bronchiectasis. Monitoring disease progression requires both functional and structural assessments of the lungs. This study aims to investigate the relationship between lung function, structural abnormalities, and quality of life in patients with PCD. Materials and Methods: The study included 30 genetically confirmed PCD patients under routine follow‐up and had no active infection at the time of evaluation. Demographic and clinical data were recorded. Pulmonary function tests (PFT), including spirometry, plethysmography, and diffusion capacity for carbon monoxide, performed within the past year, were analyzed. Chest computed tomography (CT) scans were evaluated using the modified Bhalla scoring system. The St. George's Respiratory Questionnaire (SGRQ) was administered during the most recent follow‐up. Results: The median age of the 30 PCD patients (male‐to‐female ratio: 17:13) was 11.6 years. The median FEV ₁ z‐score was −1.6, with mild, moderate, and severe obstruction observed in 48%, 24%, and 20% of the patients, respectively. FEV ₁ , FVC, and FEF _25‐75 values decreased with age, while TLC was increased. High‐resolution computed tomography (HRCT) revealed mild lung damage in 80% and moderate damage in 20% of the cohort. SGRQ scores showed a positive correlation with exacerbations and a negative correlation with spirometric parameters. Conclusions: Pulmonary functional impairment and reduced health‐related quality of life in children with PCD are closely related to the perceived burden of disease. Although structural abnormalities on HRCT do not directly affect quality‐of‐life scores, they correlate with functional impairment.

This study aims to compare volumetric magnetic resonance imaging (MRI) measurements between premature children with cerebral palsy (CP) and healthy controls, and to evaluate the relationship between volumetric data and clinical findings. This retrospective study included 53 premature CP patients (group 1) and 53 age- and sex-matched healthy controls (group 2). Brain volume measurements were obtained using the VolBrain program based on 3D T1-weighted MRI images. The mean ages at MRI acquisition were 4.32 years for group 1 and 4.73 years for group 2. Common MRI abnormalities in group 1 included periventricular leukomalacia (68%), periventricular and intraventricular hemorrhage sequelae (15%), and lateral ventriculomegaly (22%). Volumes of total cerebral tissue, white and gray matter, cerebellum, cerebellar gray matter, globus pallidus, and corpus callosum were significantly reduced in group 1 compared with group 2. Positive correlations were found between total cerebral white matter and cerebellar volumes with motor function scores in CP patients. Volumetric neuroimaging reveals more extensive and complex brain involvement in premature children with CP than previously assumed. VolBrain may offer a practical and objective method for monitoring disease progression in clinical settings.

Background: This study aimed to characterize VACTERL‐associated anomalies in patients with esophageal atresia (EA), with particular emphasis on skeletal anomalies. Methods: 168 EA patients were evaluated as those with a distal TEF (D‐TEF) (86.9%), those without D‐TEF (9.5%), and isolated TEF (3.6%). In the D‐TEF subgroup, a gap length of ≥ 4 vertebral‐body was defined as long‐gap EA (15.8%). Baseline neonatal chest and spine radiographs were reviewed using a standardized protocol. Results: The mean gestational age was 36.41 ± 3.04 weeks. The mean birth weight was 2525.35 ± 728.52 g. Long‐gap D‐TEF patients had lower gestational age and birth weight ( p = 0.014 and p = 0.001, respectively). Vertebral, rib, renal, limb, and cardiac anomalies and anorectal malformations (ARM) were present in 17.9%, 14.9%, 19.6%, 9.5%, 38.1%, and 12.5%, respectively. Vertebral and rib anomalies were significantly associated ( p < 0.05). Exploratory analyses suggested differences in vertebral‐anomaly location across EA subtypes (nominal p = 0.038) and in limb‐anomaly frequency across anatomic EA subtypes (nominal p = 0.047). ARM was more frequent in long‐gap than short‐gap D‐TEF (30.4% vs. 8.9%; p = 0.010). It remained significant across sensitivity analyses using alternative gap‐length thresholds. VACTERL association was present in 25.0% of the cohort, without a significant association with anatomic subtype. Conclusions: Skeletal anomalies were common across EA phenotypes with possible subtype‐related differences in their distribution. A standardized assessment on baseline radiographs may improve VACTERL phenotyping and provide a more accurate description of the musculoskeletal burden in patients with EA. The association between ARM and greater gap length in D‐TEF should be interpreted within the present cohort and the study‐specific gap‐length definition.

Grisel syndrome (GS) is a rare, non-traumatic atlantoaxial rotatory subluxation that predominantly affects children and can lead to severe neurological complications such as quadriplegia, radiculopathy, and respiratory arrest. It typically occurs following upper respiratory tract infections or head and neck surgery. Although GS associated with systemic inflammatory diseases such as Kawasaki disease (KD) and acute rheumatic fever (ARF) has been reported, these cases usually involve an underlying infectious trigger. In contrast, we report two cases of GS that developed without any infectious or surgical triggers: one associated with juvenile idiopathic arthritis (JIA) and the other with familial Mediterranean fever (FMF). These cases highlight that systemic inflammation alone may be sufficient to induce atlantoaxial instability, emphasizing the need for clinicians to consider GS in patients with systemic inflammatory conditions presenting with neck pain or torticollis, even in the absence of infection or surgical history. Early recognition and prompt management are crucial for preventing serious neurological sequelae. Due to the limited number of GS cases reported in association with rheumatologic diseases, this report also includes a review of the literature to provide a broader perspective on this rare but serious complication.

Gorham syndrome is an extremely rare bone disease, with only a limited number of cases reported worldwide. It is characterized by progressive bone resorption associated with abnormal proliferation of lymphatic vessels, making it a rare case in medical literature. This disorder can lead to serious complications including chylothorax, especially in children. Early diagnosis and treatment are crucial in the prevention of life-threatening outcomes. This report presents a case of a young child with recurrent pleural effusion and bone lesions, eventually diagnosed with Gorham's disease. A three-year-old patient was admitted with recurrent pleural effusion, chylothorax, and pneumothorax. Imaging revealed multiple lytic bone lesions, suggestive of bone destruction. A lung biopsy confirmed lymphatic dilation, supporting a diagnosis of Gorham's disease. The patient’s condition was evaluated through a multidisciplinary approach involving pulmonology, pathology, and radiology teams. Treatment included a combination of pharmacotherapy and dietary modifications, which successfully stabilized the patient’s condition. The child has since been closely monitored, with no significant recurrence of symptoms. The progression of the disease can be life-threatening, particularly when the thoracic duct is involved, leading to recurrent pleural effusions. In this particular case, early diagnosis through a collaborative medical approach allowed for prompt treatment. Ongoing monitoring is essential in preventing relapses and ensuring long-term health outcomes for the patient.

Purpose This preliminary study investigated the effectiveness of conventional ultrasound (US) and Doppler US in evaluating rectosigmoid ratio (R/S) and blood flow dynamics in children with functional constipation (FC). Methods A total of 62 children aged 5–18 years were enrolled, including 32 patients with FC and 30 healthy controls. Rectal and sigmoid diameters, R/S ratio, and mesenteric blood flow parameters (PSV, PI, and RI) were assessed using standardized US and Doppler US techniques before and after a three-month treatment regimen including behavioral therapy and osmotic laxatives. Results The R/S ratio significantly improved after treatment in the FC group (p = 0.036), while no significant changes were observed in mesenteric blood flow velocities or resistive indices. Patients with R/S ≥ 1 had significantly lower celiac artery PSV values compared to those with R/S < 1 (p = 0.009). Conclusions While Doppler US did not yield substantial clinical benefits in assessing intestinal blood flow in FC, the non-invasive evaluation of the R/S ratio proved useful in monitoring treatment response. This preliminary study suggests that rectosigmoid measurements may aid in patient management and calls for further research with larger cohorts.

The aim of this study is to demonstrate the reliability of Quantitative Ultrasound (QUS) in assessing liver fat content in children, using magnetic resonance imaging proton density fat fraction (MRI-PDFF) values as a reference, and to determine threshold values for QUS in grading hepatosteatosis. The study group consisted of pediatric patients under 18 years of age without known liver disease who volunteered to participate. All patients underwent MRI-PDFF scanning, and QUS imaging was performed using the tissue attenuation imaging (TAI) ve tissue scatter distribution imaging (TSI) tools. The cut-off values for MRI-PDFF were set at ≥5%, ≥16.3%, and ≥21.7%, corresponding to mild, moderate, and severe steatosis, respectively. The diagnostic performance of TAI and TSI in detecting various degrees of hepatic steatosis was evaluated using the area under the ROC (AUROC) curves. The frequencies of hepatosteatosis grading were as follows: S1: 19 (37%), S2: 5 (10%), S3: 22 (43%). The AUROCs for TAI and TSI tools in detecting QUS measurements (MRI PDFF ≥5%) were 0.95 [95% confidence interval (CI): 0.91-0.99] (p< 0.001) and 0.96 (95% CI: 0.93-0.99) (p<0.001), respectively. For distinguishing different degrees of steatosis, TAI showed values of 0.75, 0.86, and 0.96 dB/cm/MHz, corresponding to sensitivities of 88%, 88%, and 100%, respectively, while TSI showed values of 92.44, 96.64, and 99.45, with sensitivities of 90%, 92%, and 91.7%. The correlation test between QUS measurements [TAI, TSI, EzHRI (Hepato-Renal Index with Automated regions of interest Recommendation)] and MR-PDFF indicated a concordance in TAI and TSI values, but not with EzHR. The TAI and TSI tools can accurately measure liver fat content and can be used reliably in children for the assessment and grading of hepatosteatosis.

Objective: Early diagnosis of tuberculosis (TB) is important in reducing morbidity and mortality. In this study, we aimed to determine the signs and symptoms that provide the differential diagnosis of TB in pediatric patients. Patients and Methods: The study included children diagnosed with TB between 2019 and 2023. Patients’ clinical, laboratory, and radiological findings, treatments, clinical course, and complications were analyzed. Results: Of a total of 28 patients, 15 had pulmonary TB, 6 had lymphadenitis, and 7 had abdominal TB. Their median age was 127.28±65.11 months; sixteen patients (57.1%) were male, and 11 (39.3%) had contact. Prolonged cough, fever, weight loss, and abdominal pain were the most common symptoms. Eighteen (64.3%) had a history of antibiotic usage. C-reactive protein and erythrocyte sedimentation were statistically significantly higher in patients with abdominal TB than patients with pulmonary TB, and lymphopenia and hypoalbuminemia were more common (0.009, 0.002, p

Objective: Cat scratch disease (CSD) is the infectious disease caused by Bartonella henselae. Its typical presentation is regional lymphadenopathy. Also it may present with symptoms related to involved organs or disseminated disease with fever of unknown origin (FUO). Here children with CSD are evaluated to increase awareness about disease. Materials and Methods: A total of 29 children diagnosed with CSD between 2019 and 2022 were involved in the study. Patients’ demographic characteristics, clinical, laboratory and radiological findings, treatments, and outcomes were analyzed. Results: Seventeen of the patients were male, 12 were female, and their mean age was 116.5 ± 51 months. About 69.6% of them had a history of cat contact. Twenty-seven patient (93.1%) had lymphadenopathy, mostly axillary involved (61.5%). Other manifestations were disseminated disease presented with FUO, neuroretinitis, and encephalopathy. Twenty-seven patients (93.1%) had received antibiotics before admission without any improvement. Ultrasound showed that the affected lymph nodes were conglomerated, lobulated contoured, and cortical thickened, with one-third having cystic suppurative components. Serologic tests were positive in 24 of 27 patients. Twenty-one patients gave response to 5 days azithromycin treatment, in 8 patients this treatment extended to 10-14 days, rifampicin with/without doxycycline was given to 6 patients, and steroids were given to 3 patients. Conclusion: In case of regional lymphadenopathy, especially axillary, not responding to nonspecific antibiotics CSD should be suspected. Cat contact history and serological and ultrasonographic findings are useful for diagnosis. Even if CSD responds well to azithromycin, sometimes prolongation of azithromycin and addition of other antibiotic or steroid may be required. Cite this article as: Öcal-Demir S, Kahraman K, Bozbeyoğlu G, Esen F. Clinical presentation of cat scratch disease in pediatric patients—A single-center study. Turk Arch Pediatr. 2024;59(6):574-579.