Alessia Migliore

Background: Molecular syndromic stool panels are increasingly used in paediatric diarrheal syndromes; however, interpretation of Clostridioides difficile (C. difficile) detection remains challenging because colonisation is common in younger children. We aimed to assess the frequency of C. difficile detection using a syndromic gastrointestinal panel in a paediatric tertiary-care centre and to describe the subsequent microbiological work-up and CDI-directed treatment. Methods: We conducted a retrospective single-centre study of all BioFire FilmArray Gastrointestinal (GI) panels performed at San Marco Hospital (University Hospital “G. Rodolico-San Marco”, Catania, Italy) from 1 January 2023 to 31 December 2025. Only the first C. difficile-positive result per patient was included; repeat positives within 30 days were excluded. Index-positive episodes were stratified by age (C. difficile. After exclusion of repeat positives, 91 index-positive episodes were analysed. Median age was 1.0 years (IQR 0.75–4.0), and 48/91 cases (52.7%) occurred in children younger than two years. Toxin A/B EIA was positive in 11/82 tested episodes (13.4%), whereas GeneXpert tcdB was positive in 75/84 episodes (89.3%). Co-detection of at least one additional enteric pathogen occurred in 40/91 cases (44.0%). CDI-directed therapy was administered in 9/91 episodes (9.9%), mainly in children aged ≥2 years. Conclusions: Detection of C. difficile by syndromic molecular panels was relatively frequent in our paediatric cohort but rarely associated with toxin positivity or the need for specific treatment. These findings suggest that many positive Nucleic Acid Amplification Test (NAAT) results may represent colonisation rather than true infection, particularly in younger children. Careful clinical interpretation of syndromic panel results is therefore essential to avoid overdiagnosis and unnecessary antimicrobial therapy.

Background: Cerebral echinococcosis is a rare, potentially serious parasitic disease in children, that can lead to intracranial hypertension, focal neurological deficits, seizures, and severe complications. We conducted a systematic review and meta-analysis on diagnostic, therapeutic approaches, and outcomes in pediatric cerebral echinococcosis. Methods: A systematic search was performed on PubMed, Scopus, and Web of Science, selecting English studies on children (0–18 years). Studies describing clinical, imaging, surgical, pharmacological, and outcome data were eligible. Statistical analyses (Fisher’s exact and chi-square tests) were performed in R. Results: A total of 100 studies with 462 pediatric patients met the inclusion criteria. High-resolution imaging has largely replaced invasive diagnostics; MRI-based diagnosis correlated with better outcomes. Headaches, vomiting, papilledema, seizures, and hemiparesis were common. Surgical cysts’ removal remained the main therapy. Additional treatment with albendazole was associated with a higher probability of good outcome (p < 0.001). A greater number of cyst localizations was significantly associated with a worse prognosis (p < 0.001). Overall mortality was 8.9%, while approximately 2/3 of patients achieved a good outcome. Conclusions: Advances in non-invasive imaging, refinement of surgical technique, and targeted antiparasitic therapy improved outcomes. Nevertheless, heterogeneous reporting and the prevailing paucity of evidence limit definitive recommendations. Prospective multicenter studies are needed to refine treatment and develop pediatric-specific guidelines.

Background: Phenylketonuria (PKU) is a rare autosomal recessive metabolic disorder caused by mutations in the phenylalanine hydroxylase (PAH) gene, leading to hyperphenylalaninemia (HPA). Untreated, elevated phenylalanine (Phe) levels cause severe neurocognitive, developmental, and psychiatric complications. Management relies on a Phe-restricted diet, which is challenging to maintain, particularly in adolescents and adults. Sapropterin dihydrochloride, a synthetic form of tetrahydrobiopterin (BH4), can enhance residual PAH activity, lowering blood Phe levels and increasing dietary tolerance in responsive patients. However, real-world alignment with best practices remains underexplored. This study aims to report a tertiary referral center’s experience with sapropterin treatment in PKU and assess adherence to international guidelines. Methods: We retrospectively analyzed 23 PKU patients treated with sapropterin from 2007 to 2025. Patients with baseline Phe levels of 360–2000 µmol/L underwent a 10 mg/kg/day loading test over two weeks. Responsiveness was defined as a ≥30% reduction in blood Phe levels. Phe levels were measured pre- and post-test, and dietary tolerance was evaluated. Adherence to best practices was critically reviewed. Results: All patients showed significant Phe reductions (mean 71.43%, p < 0.0001), exceeding responsiveness thresholds. Most achieved substantial increases in dietary Phe tolerance, with three patients partially responsive (800–1200 mg/day). Responsiveness was unrespectful of the patient’s genotype, for those individuals for whom this was known (8/23 patients). Although effective, the test dose and duration differed from guideline recommendations (20 mg/kg/day). Neuropsychological and QoL assessments were not systematically performed, representing a key limitation. Conclusions: Sapropterin dihydrochloride effectively identified responders and improved dietary flexibility even with lower dosing protocols. Greater adherence to international standards, particularly regarding long-term neuropsychological monitoring, is needed to optimize patient care.

Introduction: Sleep is a fundamental biological function critical for physical and mental health. Chronic sleep disturbances can significantly impair cognitive, emotional, and social functioning, leading to deficits in attention, alertness, and executive function, alongside increased irritability, anxiety, and depression. For pediatric patients, such disturbances pose additional concerns, potentially disrupting developmental processes and quality of life for both children and their families. Objectives: Emerging evidence suggests a correlation between neurofibromatosis type 1 (NF1) and an increased prevalence of sleep disorders in children. NF1, a genetic condition affecting multiple body systems, including the nervous system, may predispose children to sleep disturbances due to its neurodevelopmental and behavioral impacts. This observational case–control study aimed to explore the association between NF1 and sleep disorders in pediatric patients, comparing the prevalence and patterns of sleep disturbances between NF1 patients and healthy controls. Patients and Methods: The study included 100 children aged 2–12 years, divided into two groups: 50 with NF1 (case group) and 50 children belonging to the control group. NF1 patients were recruited from the Unit of Rare Diseases of the Nervous System in Childhood at the Policlinico “G. Rodolico—San Marco” University Hospital in Catania. Data were collected using a questionnaire completed by parents, assessing parasomnias, breathing-related sleep disorders, and other behavioral and physiological disturbances; these data were compared to a sleep assessment performed using an Apple Watch Ultra. Results: NF1 patients exhibited a significantly higher prevalence of sleep disorders than controls. Notable differences included increased nocturnal hyperhidrosis (48% vs. 10%), bruxism (48% vs. 28%), restless legs syndrome (22% vs. 4%), frequent nighttime awakenings (22% vs. 8%), and sleep paralysis (12% vs. 0%). A finding of poorer sleep quality also emerged from the results of sleep analysis using an Apple Watch Ultra. Conclusions: These findings confirm an elevated risk of sleep disorders in children with NF1, emphasizing the importance of early identification and management to improve quality of life and mitigate cognitive and behavioral impacts. Further research is essential to understand the mechanisms underlying these associations and develop targeted interventions for this population.