Background Posterior Reversible Encephalopathy Syndrome (PRES) is an acute neurological syndrome characterized by clinical and radiologic features that can occur in children under specific circumstances. Solid Organ Transplantation (SOT) and Hematopoietic Stem Cell Transplantation (HSCT) are the most commonly reported underlying conditions in children, although they have been studied separately and in small series. Objective This study aimed to compare the characteristics of PRES in children following HSCT and SOT. Methods and Settings We conducted a retrospective single-center study of children diagnosed with PRES after transplantation between 2007 and 2019 based on a review of local transplant databases. Neuroradiologists reviewed all brain magnetic resonance imaging (MRI) to confirm diagnoses. Clinical presentation, imaging findings, risk factors, and outcomes were compared between children after HSCT and SOT. Results Among 548 HSCT and 556 SOT recipients, 33 PRES cases were initially suspected. After imaging review, 12 cases were excluded. Finally, nine cases of PRES following HSCT (median age 7.6 years, 6 males) and 12 following SOT (liver, kidney, and heart transplants, median age 8.9 years, 7 males) were included. PRES was a rare complication, occurring in 2% of patients undergoing HSCT and SOT (p= 0.66). Clinical presentation was similar in both groups, mainly with seizures (n=20, 95%). Hypertension and transplantation-related complications promoting endothelial damage were common in both groups. MRI showed typical posterior brain lesions in all patients, but also abnormal anterior regions in 19 (91%) patients and positive diffusion restriction in ten (48%). PRES was a severe complication, with frequent intensive care unit (ICU) admission (n=13, 62%). Conclusion PRES is a rare but severe complication in children after transplantation, with a higher incidence and severity than previously reported. Our findings suggest a key role of endothelial dysfunction. Early recognition of risk factors and careful interpretation of MRI are crucial for timely diagnosis and management.
Background Juvenile Idiopathic Arthritis (JIA) is the most common chronic rheumatic disease in children. Interleukin-17A (IL-17A), a proinflammatory cytokine produced by Th17 cells, plays a key role in the pathogenesis of chronic inflammatory arthritis. Objective To evaluate serum IL-17A concentrations and their correlation with disease activity and inflammatory markers in children with oligoarticular and polyarticular JIA. Patients and Methods This cross-sectional case-control study included 40 children with oligoarticular and polyarticular JIA and 40 age and sex-matched healthy controls. Serum IL-17A concentrations were measured using enzyme-linked immunosorbent assay (ELISA). Disease activity was assessed using the Juvenile Arthritis Disease Activity Score-27 (JADAS-27). Clinical and laboratory parameters were recorded and statistically analyzed. Results Serum IL-17A levels were significantly higher in patients with JIA compared with controls (p < 0.001). Serum IL-17A showed positive correlations with JADAS-27 score (p < 0.001), C-reactive protein (p < 0.001), and erythrocyte sedimentation rate (p < 0.001). ROC analysis demonstrated good discriminatory ability for IL-17A to distinguish active JIA from healthy controls (area under the curve (AUC) = 0.885, 95% confidence interval (CI): 0.816–0.954; sensitivity = 72.5%, specificity = 85.0% at a cut-off of 11.25 ng/L). Conclusion Serum IL-17A is significantly elevated in children with oligoarticular and polyarticular JIA and correlates strongly with composite disease activity and systemic inflammation. While these findings support a pathophysiological role for IL-17A-mediated inflammation in JIA, IL-17A serves as a biomarker of disease activity rather than a diagnostic tool, and the incremental clinical utility of routine IL-17A measurement beyond established inflammatory markers remains to be established.
OBJECTIVES:5α-reductase deficiency type 2 (5αRD2) is the second most common cause of 46, XY disorders of sex development. The 5α-reductase type 2 isozyme, which is encoded by the SRD5A2 gene, catalyzes the conversion of testosterone (T) to dihydrotestosterone (DHT). This study aimed to evaluate the clinical, laboratory, and molecular characteristics of patients with 5αRD2. METHODS:We retrospectively analyzed the clinical, laboratory, and genetic features of thirteen patients diagnosed with 5αRD2. Age, gender assignment, presenting features, hormonal profiles, and SRD5A2 variants were evaluated. RESULTS:The median age of the patients at diagnosis was 4.16 years (IQR: 0.63-10.73 years) (range: 1 month - 14.4 years). At presentation, two patients were in mini-puberty, seven were prepubertal, and four were pubertal. All patients were genetically 46,XY; however, their assigned gender at presentation differed. Gender was assigned as male in 77% of cases and as female in 23% of cases. The most common presenting feature was micropenis. The median baseline and stimulated T/DHT ratios were 6.7 (IQR: 5.3-33) and 61.7 (IQR: 32.18-104.73), respectively. Molecular analysis revealed four different variants of the SRD5A2 gene; homozygous deletion of exon 1, c.193G>C (p.Ala65Pro), c.578A>G (p.Asn193Ser) and c.586G>A (p.Gly196Ser). Clinical features and hormonal data were compared between patients with missense variants and those with homozygous deletion of exon 1. The frequencies of hypospadias and cryptorchidism, as well as baseline T/DHT ratios, were similar between the groups. However, stimulated T/DHT ratios were higher in patients with deletion of exon 1. CONCLUSIONS:This study provides valuable insights into the clinical and molecular spectrum of 5αRD2. To the best of our knowledge, this is the first report presenting a large family with a homozygous deletion of exon 1 in the SRD5A2 gene.
