Patients presenting with various symptoms to the pediatric emergency department may be diagnosed with a spinal mass. Spinal ependymoma is a central nervous system tumor that is quite rare in childhood. Early diagnosis is important in terms of reducing morbidity and mortality. The presenting symptoms should be well understood, and necessary tests for differential diagnosis should be conducted. In this case, a 9-year-old male patient who presented to our emergency department with complaints of urinary incontinence and walking difficulties and was diagnosed with spinal ependymoma will be discussed.
22 June 2026 in Journal of Pediatric Hematology/Oncology
Background: In the pediatric population, gastrointestinal (GIS) cancers are rare, and paraneoplastic syndromes associated with these malignancies are even more uncommon. Observations: A 15-year-old patient with a clinical presentation of microangiopathic hemolytic anemia (MAHA) resistant to plasma exchange was found to have metastatic adenocarcinoma in a biopsy of a supraclavicular lymphadenopathy. Subsequent endoscopy revealed gastric signet ring cell carcinoma. Conclusions: This case highlights that malignancy should be suspected in pediatric patients with MAHA who are unresponsive to plasma exchange and have normal ADAMTS-13 activity.
6 October 2026 in Uludağ Üniversitesi Tıp Fakültesi Dergisi
OM-85 is an immunomodulatory agent used for the prevention of recurrent respiratory tract infections (RTIs) in children; however, the influence of allergic and immunological characteristics on treatment response remains unclear. This study evaluated changes in infection frequency before and after OM-85 treatment and examined whether treatment response was associated with allergic status or immunological characteristics. This single-center, retrospective cohort study included 114 children treated with OM-85 for recurrent RTIs. Annual upper (URTI) and lower (LRTI) respiratory tract infection episodes before and after treatment were compared. Treatment responses were analyzed according to atopic status, inhalant allergen sensitization, and immunoglobulin status (normal, transient hypogammaglobulinemia, and partial IgA deficiency). Independent predictors of post-treatment infection burden were assessed using multivariable linear (ANCOVA) and negative binomial regression analyses. The median age was 56.5 months; 46.5% of patients were atopic, 28.1% had partial IgA deficiency, and 8.8% had transient hypogammaglobulinemia. Following OM-85 treatment, median annual URTI episodes decreased from 8 to 5 (40.6%; p<0.001; r=0.78), and LRTI episodes from 1 to 0 (63.2%; p<0.001; r=0.54). The proportion of children with frequent URTIs (≥6/year) declined from 84.2% to 33.3%, and those with at least one LRTI episode from 60.5% to 32.5%. The reduction was significant in both atopic and non-atopic patients and in subgroups with normal or low immunoglobulin levels. In multivariable analysis, the only independent predictor of post-treatment burden was baseline infection burden. OM-85 treatment was associated with a reduction in both upper and lower respiratory tract infection frequency independently of allergic status and serum immunoglobulin level, with baseline infection burden being the factor most strongly associated with post-treatment infection burden. The greatest clinical benefit is expected in children with frequent infections, and this group may constitute a priority target population for this preventive strategy.
Background/Objectives: Family functioning is a multidimensional relational context that has been associated with child health outcomes. This study aimed to evaluate the associations of parent-reported family functioning, child adiposity (BMI-for-age z-score; BAZ), and parental and child screen time with child-perceived family functioning. Methods: This cross-sectional study enrolled 212 consecutive parent–child dyads (children aged 8–10 years) at the pediatric outpatient clinic of Bursa City Hospital (July–December 2024); 197 dyads with plausible anthropometric data were analyzed. Parents and children independently completed the Family APGAR. Height and weight were parent-reported, and BAZ was calculated using the WHO 2007 reference. Screen time was assessed with a single self-reported item on average daily hours. Multivariable linear regression with robust standard errors, adjusted for child age and sex and parental age, sex, and BMI, was used. Results: Twenty-three children (11.7%) had suboptimal Family APGAR scores. Parent Family APGAR score was positively associated with child Family APGAR score (B = 0.18; 95% CI 0.07–0.30; p = 0.001), and child BAZ was inversely associated with it (B = −0.21; 95% CI −0.37 to −0.06; p = 0.006). No statistically detectable association was observed for parental (B = −0.02; 95% CI −0.10 to 0.06) or child screen time (B = −0.07; 95% CI −0.21 to 0.07). The model explained 13.9% of the variance. Internal consistency of the child-reported Family APGAR was limited (ordinal α = 0.67). Conclusions: In this cross-sectional sample, child-perceived family functioning was associated with parent-reported family functioning and child BAZ, whereas no association was detected with screen time measured as a single duration item. The direction of these associations cannot be determined.
Background:Adenosine deaminase 2(ADA2) deficiency was a systemic autoinflammatory disease characterised by systemic inflammation, vasculitis, early-onset stroke, cytopenias, and immunodeficiency.It is caused by a loss of function due to a mutation in the ADA2 gene and is inherited in an autosomal recessive pattern.Due to its ability to cause early-onset stroke, its vasculitis-like clinical manifestations, and its correlation with immunodeficiency, it is a disease that is difficult to diagnose and treat.Case presentation:In this report, we present a case of a 14-year-old with an unusual clinical onset, where the differential diagnosis involved clinical overlap of several diseases, who was diagnosed with a homozygous mutation in the ADA2 gene, and who came with complaints of abdominal swelling and chest pain.Conclusion:Unlike ADA2 deficiency, which is often considered in differential diagnosis with early-onset stroke, vasculitis, immunodeficiency, and hematological abnormalities, our case contributes to the literature by presenting with liver parenchymal disease and portal hypertension findings.
Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems. We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes. This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.